Sixteen finalists have been selected in the “Make Your Medical Device Pitch for Kids!” special COVID-19 edition competition presented by the National Capital Consortium for Pediatric Device Innovation (NCC-PDI). Representing innovations in COVID-19-related pediatric medical devices, the finalists will compete in a virtual pitch event held on July 20,2020 where up to $250,000 in awards will be given. Winners will receive grant funding of up to $50,000.
The competition is led by NCC-PDI co-founders the Sheikh Zayed Institute for Pediatric Surgical Innovation at Children’s National Hospital and the A. James Clark School of Engineering at the University of Maryland and powered by nonprofit accelerator and NCC-PDI member, MedTech Innovator.
This competition focuses on pediatric medical devices that support home health monitoring and telehealth, and improve sustainability, resiliency and readiness in diagnosing and treating children during a pandemic.
“As COVID -19 continues to threaten the health of families and children across the nation, we must continue to seek new and better ways to deliver quality care during a pandemic and offer technology solutions to reopen more safely,” says Kolaleh Eskandanian, Ph.D., MBA, PMP, vice president and chief innovation officer at Children’s National Hospital and principal investigator of NCC-PDI. “Competitions like this are vital to get ahead of the healthcare challenge that COVID-19 presents in the world of pediatrics. By supporting innovation, we provide critical breakthroughs that can positively impact the lives of the children and families we serve.”
Along with grant funding, one company from the competition will be selected by Johnson & Johnson Innovation – JLABS to receive a one-year residency at JLABS @ Washington, DC, which will be located on the new Children’s National Research & Innovation Campus currently under construction. In addition to the 2021 JLABS residency, the awardee will have access to the JLABS community and expert mentoring by the Johnson & Johnson family of companies.
The 16 pediatric device innovations that judges selected for the final competition include:
- Adipomics – simple and fast, one-step COVID-19 diagnostic kit for home or school use
- Bloom Standard (Kaaria) – wearable, AI-driven ultrasound for infant cardiac and pulmonary screening and diagnostics
- CereVu Medical – remote COVID-19 sensor, monitor and centralized data hub that measures blood oxygen saturation, muscle aches, temperature and trouble breathing
- Children’s Hospital of Philadelphia – a transparent reusable DIY origami facemask that reveals facial expressions & improves communication
- Children’s National Hospital – Lab-on-a-chip device for high-throughput combination drug screening
- Hopscotch – gamified cognitive behavioral therapy-based computer exercises to encourage kids to stay engaged and complete treatment programs
- Medichain – cost effective, accurate COVID-19 test with results in minutes and can detect the virus in the early stage
- Medipines – monitor device that displays critical respiratory parameters analyzed from a patient’s breathing sample
- OtoPhoto – a smart otoscope that quickly and accurately aids diagnosis of ear infections for home telehealth use
- OxiWear – continuous wear oxygen-monitoring device used to reduce patient insecurity
- REALTROMINS – real time, continuously updated predictive analytics to identify impending mortality in children
- SurgiPals – digital assistant and urine biochemical sensor to aid in outpatient care of children with COVID-19
- TGV-Dx – a novel, phenotype-based test system for rapid selection of effective antibiotic regimen
- VitaScope – quick, accurate infant vital signs to facilitate high-quality virtual care
- Vitls – wearable platform for remote patient monitoring of the vitals clinicians require to assess a patient
- X-Biomedical – rugged, portable smart ICU ventilator for pediatric and adult patients
Funding for the competition is made possible by a grant from the Food and Drug Administration (FDA) and a philanthropic gift from Mei Xu, founder of e-commerce platform Yes She May, a site dedicated to women-owned brands.
In addition to this COVID-19 special edition event, NCC-PDI recently revealed the ten finalists in its prestigious 8th annual “Make Your Medical Device Pitch for Kids!” competition. Cardiovascular, NICU, and orthopaedic and spine device innovations are the focus of the fall competition, taking place October 7, 2020 as part of the 8th Annual Symposium on Pediatric Device Innovation, presented by Children’s National and co-located with The MedTech Conference powered by AdvaMed.
The cardiac critical care team at Children’s National Hospital has developed an innovative Tele-Cardiac Critical Care model aiming to keep constant watch over the most fragile children with critical heart disease in the cardiac ICU. The system combines traditional remote monitoring and video surveillance with an artificial intelligence algorithm trained to flag early warning signs that a critically ill infant may suffer a serious event like cardiac arrest while recovering from complex cardiac surgery. This second set of eyes helps bedside teams improve patient safety and quality of care.
These high risk post-operative patients are often neonates or small infants born with the most complex and critical congenital heart diseases that require surgery or interventional cardiac catheterization in their first days or weeks of life. At these early stages after crucial cardiac surgery, these patients can decompensate dangerously fast with few outward physical symptoms.
The AI algorithm (T3) monitors miniscule changes in oxygen delivery and identifies any mismatch with a child’s oxygen needs. It also tracks and displays small changes in vital sign trends that could lead to a serious complication. The cardiac ICU command center staff then analyzes additional patient data and alerts the bedside team whenever needed.
The Tele-Cardiac Critical Care program started two years ago. In that time, the program has contributed to a significant decrease in post-operative cardiac arrest for this patient population.
“It’s easy to see how a model like this could be adapted to other critical care scenarios, including our other intensive care units and even to adult units,” says Ricardo Munoz, M.D., chief of Cardiac Critical Care and executive director of Telehealth. It allows the physicians and nurses to keep constant watch over these fragile patients without requiring a physician to monitor every heartbeat in person for every patient at every hour of the day to maintain optimal outcomes for all of them.”
Dr. Munoz and Alejandro Lopez-Magallon, M.D., medical director of Telehealth and cardiac critical care specialist, presented data from the pilot program at the American Telemedicine Association’s virtual Annual Meeting on June 26, 2020.
The telehealth program at Children’s National Hospital continues to expand access to remote specialty care for families, as well as increase consultation and liaison services to hospitals and clinicians who lack specialty care services on site. The Children’s National Division of Neuropsychology has been a leader in adopting multiple telehealth services including direct-to-consumer video visits, psychotherapy video visits, provider consultations and provider training and supervision.
Telehealth as a whole has been shown to increase access to care, with video visits in particular showing greater clinical and educational impact compared to telephone communications. Despite this, one key limitation has been the immobility of technology used to capture video visits.
To solve for immobility, Karin S. Walsh, Psy.D., is leading a pilot study testing the feasibility and acceptability of telepresence robotics in the division. Robot telepresence devices provide a unique approach to video visits, allowing for extended physical mobility and presence, while expanding interactions between providers and patients, supervisors and trainees and in educational interactions. Traditional video visits demonstrate good feasibility and acceptability by patients, families and staff. This new approach aims to increase the “presence” of the provider and further improve clinical impact, educational impact and patient satisfaction.
The division will initially incorporate two robots into clinical care beginning in May 2020. The pilot study is expected to be carried out over the next 12-18 months, which is particularly timely given the COVID-19 pandemic. The robots, from Double Robotics, offer a high-tech, secure, integrated platform in a device that is user friendly and effective for moving freely through the clinical environment.
“With the addition of the telepresence robots, we anticipate an increase in the quality of care and access for patients and families to neuropsychological specialty care,” says Dr. Walsh. “In addition, given the geographic separation of the program – faculty and trainees are spread across six different locations – the versatile technology will increase the division’s ability to include clinicians with particular expertise into clinical sessions and consultations, as well as in training programs.”
After the pilot study, the team will assess the acceptability of robotic telepresence technology and the special qualities that this modality may offer to enhance quality of care within neuropsychology and within collaborating medical teams.
With the advent of DNA databanks, informatics, new technology, pediatric consortiums and global partnerships, clinical researchers have never been in a better position to diagnose and treat rare diseases. A rare disease is categorically defined as a condition that affects less than 200,000 people. However, 25 to 30 million Americans, about one in 10, have a rare disease.
Accelerations in genetic research and diagnostic criteria remain one of the most significant accomplishments in medicine, but these breakthroughs invite new challenges: How will researchers provide ongoing care and treatment for patients navigating a rare disease? How can doctors and researchers multiply themselves to ensure everyone has the latest information and resources they need? How can researchers use existing trials to augment other fields? How can we diagnose, catalogue and treat hundreds of new rare diseases each year, while accelerating the research and care of 7,000 existing rare conditions?
If these questions intrigue you, excite you and make you want to collaborate with scientific peers, welcome to the field of genetics. A common theme researchers and families talk about is that rare diseases affect a small proportion of the population, but have a huge impact.
On April 10, 1,200 international researchers, lawmakers, scientists and drug developers from 50 countries will meet in Oxon Hill, Md., 10 miles south of Washington, for a three-day summit, the World Orphan Drug Congress USA, to discuss how to unify efforts to enhance and maximize care for rare disease patients.
Here are eight themes to keep in mind:
- Rare diseases are chronic diseases. The human genome project has enabled the molecular mapping of 8,000 diseases with genetic underpinnings. Of these diseases, 600 diseases have therapies. A child born with a urea cycle disorder had a 5% chance of surviving the disease 40 years ago. Now the survival rate is 95%. Helping children survive is essential, but we need to think about the best treatments and standards for long-term care.
- Rare diseases are expensive. In Western Australia, according to the 2010 Western Australia Population Cohort, rare diseases account for less than 5% of hospital visits but for 10% of hospital costs. Similar data from Cleveland finds one-third of pediatric hospital visits have a genetic link but account for half of hospital costs.
- Rare diseases share common links. We’ve diagnosed 7,000 rare diseases but there are more to unravel. For example, breast cancer has over 30 molecular subtypes – some of which turn into rare diseases. By better understanding these molecular pathways, we may be able to inform common fields of medicine.
- Global partnerships create research repositories. Gold-standard research models – double blind, controlled studies with numerous participants – aren’t possible if five people in the world share the same disease. To increase the number of study participants, global partnerships and longitudinal registries are essential.
- Standard language helps. To avoid replicating existing research and to help teams quickly reference findings, we need to adopt standardized language to quantify measurements. Researchers from Berlin and Brazil may help inform the etiology of and future treatments for PKU, but they need to manage, store, access and share their collective findings, while remaining flexible.
- The science is here. The FDA is approving more drugs for rare diseases than ever before including gene therapy and micro organs, or Rare Diseases-on-chip models. The challenge with treating so many rare diseases isn’t developing new research, but creating therapies and studies to accommodate this patient volume. About 250 rare disease discoveries happen each year. At the current rate, it will take 2,000 years to treat them all.
- Progress is here. The Orphan Drug Act fast-tracked approval for rare disease treatments and therapies, and nearly half of all drugs coming in for FDA approval are for rare diseases. However, only 5% of rare diseases have FDA-approved drugs.
- We need to replicate geneticists. To provide optimal care, doctors need to standardize education models and use new forms of technology, such as artificial intelligence and deep learning, to share resources faster via patient education portals, resources for families, CME courses and virtual connections with pediatricians or families.
If you would like to learn more or get involved, watch this international summit, the Rare Disease Day Policy Event, which took place at the United Nations Headquarters in New York on Feb. 21. (Some of these issues are covered in video 4.)
If you are a patient, download this patient toolkit from the National Center for Advanced Translational Sciences.
If you live in Washington, D.C., follow the genetics team and consider working with us as we move into a new home, the Children’s National Research and Innovation Campus, in 2020.
On March 24, 2019, George Washington University will host their annual George Hacks Medical Hackathon. Among the participants are Seema Khan, M.D., a gastroenterologist, and Kelley Shirron, MSN, CPNP, a nurse practitioner, at Children’s National Health System.
The event is a 24-hour innovation competition at George Washington University that will feature pitches addressing needs for patients battling cancer, medical and social innovation solutions for the aging community and more.
Below, Seema Khan and Kelley Shirron provide insight about the My EoE and BearScope mobile app they are pitching for the competition:
What is the idea surrounding the mobile app you are developing?
We encounter a lot of cases where the patient diagnosis of eosinophilic esophagitis (EoE) and its follow up care are delayed due to a lack of understanding regarding the nature of symptoms, miscommunications related to type of treatment and scheduling as a whole. From the moment the patient visits the doctor to the point of when an endoscopy is scheduled, the process warrants improvement and we believe this mobile app can assist tremendously. The availability of a mobile app like this can make it easier for patients to have better preparation for their procedures.
What are some obstacles that you encounter in relation to endoscopies?
We often experience instances where patients inadvertently violate their NPO (nothing by mouth) order, which results in complete cancellation of their endoscopy procedure. In a case like this, the patient would have to wait another few weeks before they can reschedule an appointment. An NPO violation leads to wasted resources. Mom and Dad took off work, the patient missed school, experienced unnecessary fasting and now they have to do it all over again, resulting in a delay of diagnosis.
How will the mobile app help patients with these issues?
We would like for the mobile app to allow patients to monitor their symptoms, corresponding to their period of treatment. The treatment for our patients is a very important process which requires close adherence. For example, the treatment can be tricky because it resembles the same diet that many kids with food allergies have to adhere to. With this mobile app, the patient could have easy access to that information and identify their food avoidances. The mobile app would identify foods they should avoid in their diet and the seasons they should avoid for scheduling of their scopes due to known seasonal allergies.
How do you envision your patients personally benefitting from the device?
We believe our mobile app can help patients avoid unnecessary pitfalls. For example, the mobile app can incorporate a game or an alarm to remind the patient to drink water or to take their medicine when necessary. A notification can pop up to remind the patient to stop eating and drinking and can detail what that means. Those notifications also include alerts for no gum chewing, hard candies, drinking coffee, etc.
Sometimes patients accidently go to the wrong location. It’s really heartbreaking to experience that because in some cases the patient hasn’t eaten in eight to 12 hours. Many times they’ve endured the pre -colonoscopy “clean out” for those also undergoing a colonoscopy and now we have to reschedule their procedure, all because of a location mix-up. We’re thinking of ways to integrate with WAZE or other navigational apps into this application to help patients coordinate their routes better, which is a helpful feature to have in Washington, D.C. An address of their procedure location could be pre-entered into the mobile app by their provider to avoid location mix-ups. By incorporating this feature, it will help us provide patients with efficient and prompt care.
What excites you about this project?
We’re excited about this because this mobile app could improve the delivery of health care by helping patients and their families identify possible associations between their diet and their symptoms. The content in the app will also help them be better prepared for their diagnostic procedure, and will hopefully reduce last-minute cancellations due to misunderstandings. These capabilities are fun to think about and we’re excited about the creativity that will be incorporated into this project.
Children’s National will also be hosting the 2019 Clinical and Translational Science Institute (CTSI) Healthcare Hackathon on March 29th. The half day hackathon will feature both medical and public health applications developed by participating teams. More information about the event can be found on the event’s official website. To register you team, please click here.
The telemedicine robot at Children’s National arrived in late August 2018 and recently completed a 90-day test period in the tele-cardiac intensive care unit (cardiac ICU) at Children’s National. The bot travels between rooms as a virtual liaison connecting patients and attending nurses and physicians with Ricardo Munoz, M.D., executive director of the telemedicine program and the division chief of critical cardiac care, and Alejandro Lopez-Magallon, M.D., a cardiologist and medical director of the telemedicine program.
Drs. Munoz and Lopez-Magallon use a nine-screen virtual command center to remotely monitor patient vitals, especially for infants and children who are recovering from congenital heart surgery, flown in for an emergency diagnostic procedure, such as a catheterization, or who are in the process of receiving a heart or kidney transplant. Instead of traveling to individual rooms to check in on the status of one patient, the doctors can now monitor multiple patients simultaneously, enhancing their ability to diagnose, care for and intervene during critical events.
If Drs. Munoz or Lopez-Magallon need to take an X-ray or further examine a patient, they drive the robot from its ‘robot-only’ parking space adjacent to the nurse’s station, and connect with attending doctors and nurses in the teaming area. The onsite clinicians accompany one of the telemedicine doctors, both of whom remain in the command center but appear virtually on the robot’s display screen, to the patient’s room to capture additional medical information and to connect with patients and families.
Over time, the telemedicine team will measure models of efficiency in the tele-cardiac ICU, such as through-put, care coordination, and standards of safety, quality and care, measured by quality of life and short- and long-term patient health outcomes. This test run will serve as a model for future command centers offering remote critical care.
“As technology and medicine advance, so do our models of telemedicine, which we call virtual care,” says Shireen Atabaki, M.D., M.P.H., an emergency medicine physician at Children’s National, who manages an ambulatory virtual health program, which enables patients to use virtual health platforms to connect with doctors, but from the comfort of their home. “We find the patient-centered platforms and this new technology saves families’ time and we’re looking forward to studying internal models to see how this can help our doctors, enabling us to do even more.”
The ongoing virtual connection program that Dr. Atabaki references launched in spring 2016 and has enabled 900 children to connect to a doctor from a computer, tablet or smart phone, which has saved families 1,600 driving hours and more than 41,000 miles over a two-year period. Through this program, virtual care is provided to children in our region by 20 subspecialists, including cardiologists, dermatologists, neurologists, urgent care doctors, geneticists, gastroenterologists and endocrinologists.
To extend the benefits of virtual communication, while saving mileage and time, Dr. Atabaki and the telemedicine team at Children’s National will partner with K-12 school systems, local hospitals and health centers and global health systems.
The Children’s National robot was named Dr. Bear Bot after a 21-day voting period with patients and staff, beating 14 other child-selected names, including SMARTy (Special Medical Access to Remote Technology), Dr. Bot and Rosie. Dr. Bear Bot celebrated with an official reveal party on Valentine’s Day, which was streamed to over 220 patients through the hospital’s closed-circuit television and radio station.
Neurosurgeons at Children’s National Health System are getting a new three-dimensional (3D) perspective on their cases thanks to an FDA-approved breakthrough virtual reality surgical system.
Children’s National is the first pediatric health system in metropolitan Washington, D.C., to use this state-of-the art system, created by Surgical Theater. It seamlessly integrates patient-specific surgical planning and navigation, professional education and rehearsal.
The technology acquisition was made possible through a generous gift from Sidney & Phyllis Bresler, in honor of their children Alex, Jonathan and Amanda and grandson Theo Charles Bresler, and in loving memory of Joshua Stouck.
“Virtual reality modeling enables us to further explore, analyze and find the best approach for each unique surgical procedure,” said Children’s National President and CEO Kurt Newman, M.D. “This generous gift from Sidney & Phyllis Bresler should translate into better outcomes for many of the more than 17,500 patients who receive surgery at our hospital each year, and will benefit generations to come. We are deeply grateful for the Breslers’ commitment to pediatric innovation.”
The 3D, 360-degree view gives surgeons a cutting-edge digital tool to plan procedures in depth using an accurate capture of the patient’s unique anatomy, and also allows the surgeon to illustrate the surgical path in greater detail than ever before for patients and their families.
“Technology such as Surgical Theater’s represents a quantum leap for neurosurgeons, both in and out of the operating room,” said Robert Keating, M.D., chief of Neurosurgery at Children’s National, in a press release from the company. “It allows us to marry state-of-the-art 3D simulation to the real world; for the patient and family as well as doctors in training, and ultimately offers a new tool for the neurosurgical armamentarium in approaching complex lesions in the brain, such as AVM’s, tumors, epilepsy and functional cases.”
Andrew Dauber, M.D., MMSc., the division chief of endocrinology at Children’s National, spoke about epigenetics – how genes are expressed – and about all things related to pediatric endocrinology in a recent Ask Me Anything (AMA) chat with Reddit’s science community.
We’ve selected highlights from several questions Dr. Dauber received. You can view the full AMA discussion on Reddit.
Q1: What will the future of type 1 diabetes treatment look like?
As a pediatric endocrinologist, Dr. Dauber sees a lot of patients with type 1 diabetes. He predicts technology will pave the way for advancements with continuous glucose monitoring and encourage a ‘real-time’ interaction between patients and providers:
“I anticipate that within a few years, everyone will have access to continuous glucose monitoring technology and that these will be seamlessly connected to insulin pumps or artificial pancreas technologies,” types Dr. Dauber in response to the first AMA question. “I also think there will be more virtual interaction between medical providers and patients with doctors and nurses reviewing blood sugar data in the cloud.”
Q2: What height range is considered normal for a growing child? What is the difference between short stature and a height problem?
The Centers for Disease Control and Prevention has a growth chart, which shows ‘normal’ ranges, based on statistical definitions of height in the general population.
“The truth is that I know plenty of people who have heights below the ‘normal’ population, and they don’t think they have a problem at all,” says Dr. Dauber. “From a genetics point of view, the question can be reframed: When do we call a genetic variant a ‘mutation’ versus a rare variant in the population? For example: If there is a genetic change that 1 in a 1,000 people have that causes you to be 2 inches shorter – is that a problem? Is that a disease?”
“From a clinical perspective, I tend to have a discussion with my patients and their families and ask them how their stature is affecting their lives and whether changing that would really make a meaningful difference,” adds Dr. Dauber. “I believe that this is a very personal decision but people need to be realistic about expected outcomes.”
Q3: What are your favorite case studies about atypical growth or height patterns?
Dr. Dauber references two case studies about growth and puberty:
The growth case study refers to the PAPPA2 gene, which was particularly meaningful for Dr. Dauber since he got to know the family and was able to provide answers to a previously undiagnosed medical mystery about short stature. This research is also opening future studies and analysis about the regulation of IGF-1 bioavailability.
The puberty case study looks at the opposite end of growth and development: precocious puberty. In this case an inherited MKRN3 gene mutation resulted in new insight about the regulation of pubertal timing: Deficiency of MKRN3 caused central precocious puberty in humans. Girls who had inherited the mutated genes from their father (an imprint gene) started to develop breasts before age 6. The results were published in The New England Journal of Medicine.
Q4: What are the differences with consistent and inconsistent growth disorders? Could one arm or leg experience accelerated or stunted growth?
“Most genetic disorders that affect growth will have a uniform effect throughout the body as they are likely to affect all aspects of the skeleton,” says Dr. Dauber. “That being said, there are some notable exceptions such as Russell-Silver syndrome which presents with body asymmetry. There are also somatic mutations (mutations which are just present in some cells in the body) that can lead to segmental areas of overgrowth leading to asymmetry.”
Q5: Can you predict height and growth by looking at genetic factors? What are your thoughts about polygenic risk scores?
“Polygenic risk scores will probably play more of a role in the future to help determine risk of a certain disease,” says Dr. Dauber. “Right now, for most conditions, the risk score does not explain a substantial enough fraction of the variation to help with prediction.”
Dr. Dauber discusses how this works for height, a highly hereditable trait, in The Journal for Clinical Endocrinology and Metabolism. In the review, Dr. Dauber and the study co-authors note that individuals with extreme heights are more likely to have abnormal stature as a result of a severe mutation that causes a growth disorder. For these individuals, whole exome sequencing may reveal gene mutations.
However, the study authors note that for now, the role of these technologies in individuals with extreme stature but without any syndromic features has not been rigorously and systematically explored. (Dr. Dauber and a team of endocrinologists from leading children’s hospitals are currently using electronic health records to study and track these types of genetic clues over time.)
Q6: The general public is excited about genetics and ongoing research, especially with consumer applications – such as genetic tests, including 23andMe. What misconceptions about genetics do people have? What ethical concerns do geneticists share right now?
“Many people think that genetics is completely deterministic,” says Dr. Dauber. “In reality, most genetic variants influence a person’s predisposition toward a trait or disease but don’t actually determine the outcome. Also, the genetic sequence itself is just the first step. Epigenetics, gene regulation, and gene-environment interactions are all important and we are just scratching the surface of understanding these areas.”
“I think that people engaged in genetics research are very interested in the ethical questions,” adds Dr. Dauber. “The problem is that technology is advancing at such a rapid pace, that often consumers are using technologies in ways that we haven’t yet had time to figure out the ethics for. The medical community is often playing catch up.”
Q7: Aside from using gene modifications to cure diseases, where or when should we draw the line in terms of enhancement?
“I think genetic modification for enhancement is a very dangerous slippery slope that we should avoid,” says Dr. Dauber. “We really don’t know the full effect of many genes and by enhancing them, we could be causing lots of problems that we can’t anticipate. There is a reason that evolution is a slow process that happens over millions of years. I think we need to start with the most devastating diseases and try to cure those first.”
Q8: Would it be ethical to use CRISPR on the genes for short stature to produce tall offspring if the risks are sufficiently small? This would be similar to what Dr. He did, but without the ethical violations.
“This is a fascinating question and it will become more of an issue over time,” says Dr. Dauber. “Where do we draw the line between fixing, preventing disease and enhancing physical function? Personally, I think using genome editing to promote height is a terrible idea. Our current perception that taller height is more desirable is a social construct and varies by culture. This idea also changes over time.”
Q9: Overall, how does this fit into meeting unmet medical needs?
“I would be very wary about trying to design our children’s physical features,” Dr. Dauber notes. “We need to figure out as a society what diseases are sufficiently problematic that we feel comfortable trying to eliminate them via genome editing.”
Q10: How many genes control acromegaly? Is it possible (in theory) to Top of Formselect them just to gain the positive effects of gigantism without the health risks?
Dr. Dauber explains that acromegaly, a condition often referred to as gigantism, is caused by a growth hormone-producing tumor. There are a few genes known to cause these tumors, including the AIP, and there was recently a genetic cause of X-linked gigantism, which was published in The New England Journal of Medicine.
“This basic idea is a good one,” notes Dr. Dauber. “We can find genes that when mutated can cause tall stature – and then try to manipulate those pathways. A great example is the NPR2 gene, which when mutated can cause short or tall stature. This pathway is being targeted for therapeutics related to achondroplasia.”
The National Institutes of Health (NIH) refers to achondroplasia as ‘short-limbed dwarfism,’ which results in an average-sized trunk with short limbs, especially arms and legs, due to a lack of cartilage turning into bone. The average height of an adult male with achondroplasia is 4 feet, 4 inches, while the average height of adult females with achondroplasia is less than 4 feet, 1 inch. In this case, manipulating growth pathways may help alleviate health problems associated with achondroplasia: lack of mobility or range of motion, an enlarged head, apnea, ear infections and spinal stenosis, or a compression or pinching of the spinal cord.
Q11: Give us a history lesson. Why are there variations of height within populations, such as Asia and Latin America?
“The average height in a population is due to the influence of literally thousands of common genetic variants,” says Dr. Dauber. “These population differences have evolved over thousands of years due to a combination of migration and selection. There is a well-known difference in the genetic makeup of various populations which likely underlies the differences across the globe. There are even differences within Europe.”
Q12: Are there examples of pseudoscience or theories about growth, such as recommendations to eat a certain food instead of taking growth hormones to correct for a growth disorder, which runs contrary to scientific evidence, that drive you crazy?
“I don’t really get bothered by crazy theories, but it is upsetting when patients and their families get swindled into spending their money on therapies that aren’t truly effective,” says Dr. Dauber. “People ask me all the time if a certain food or exercise can make their child taller. The bottom line is that in a well-nourished (and healthy) child, there is no magical food that is going to make them tall.”
Q13: According to almost every theory of how life evolved on Earth, from religion to evolution, we all have one common ancestor. In theory doesn’t that make us all cousins?
“Yes, just very distant ones,” says Dr. Dauber. “People always point out the vast number of differences between races but in fact we are all more than 99.9 percent identical on a genetic level.”
Rebecca Cady, vice president and chief risk officer at Children’s National Health System, is the recipient of the 2018 American Society for Health Care Risk Management (ASHRM ) Professional of the Year award. Cady’s dedication to advancing the risk management industry has been demonstrated through her commitment to innovation in the face of industry challenges.
Recently, she directed the implementation process for reporting safety incidents via a mobile app created by RL Solutions. Children’s National was one of the early adopters of the mobile app technology that has allowed staff to instantaneously provide feedback about unsafe conditions directly from their smartphones.
“The mobile app enables staff to report an event quickly so that it doesn’t get lost or forgotten and something can be done about it,” Cady says. “We already were working on a project to increase incident reporting, so integrating the mobile app was an important addition for providers looking to report issues of concern.”
Cady is in charge of the Children’s National enterprise risk management department and management of their litigation program; including serving as counsel to the compliance officer and Human Resources. She also oversees operations of Children’s clinical risk management program, ombudsman program, workers’ compensation program and the insurance program; including managing the organization’s captive insurance company.
Her approach consistently applies diverse tools and strategies of risk management, such as enterprise risk management (ERM), strategic risk management, risk financing and insurance. At Children’s National, she has built an ERM infrastructure that enables faster understanding of risk management and adoption by staff at all levels. This led to adopting incident reporting on mobile devices and resulted in overall improvements in hospital performance.
Previously, Cady served as interim vice president, chief compliance and privacy officer at Children’s National. Prior to joining Children’s National, she was a partner at Grace Hollis Lowe Hanson & Schaeffer LLP.
Opportunities to improve the lives of children are increasingly found at the intersection of health and technology, a sweet spot for enhancing care in today’s connected world. A team of experts at Children’s National Health System launched several initiatives using health information technology to improve care delivery, earning the institution the prestigious 2017 HIMSS Enterprise Davies Award. Recognizing outstanding achievements of organizations that have utilized health IT to significantly improve patient outcomes while also achieving a return on investment, Children’s National received the award based on three case studies in particular:
- Decreasing use of CAT scans by 44 percent – A new diagnostic tool led by Shireen Atabaki, M.D., M.P.H., emergency medicine specialist, incorporated into the electronic health record helps prescribers determine if CT scans are necessary for children with head injuries through a checklist protocol. The new tool reduced the rate of CT scan utilization by 44 percent – decreasing unnecessary radiation exposure for children and resulting in first-year cost savings of more than $875,000.
- Innovative unit-based quality boards – These electronic boards provide health care teams and families with real-time quality and safety information. By having patient information readily available in one location, the boards improved medication reconciliation by 13 percent, decreased the time to patient consent by 49 percent, and reduced duration of urinary catheters by 11 percent.
- Improved clinician documentation – To improve outcomes and reduce costs,
Children’s National transitioned from dictation/transcription-driven notes to electronic/voice recognition notes in ambulatory specialty clinics. This allowed for the immediate availability of notes to all care providers and a significant reduction in transcription costs.
These initiatives demonstrate the life-changing quality and safety efforts under way at Children’s National that put patient safety first. Brian Jacobs, M.D., vice president, chief medical information officer and chief information officer, accepted the award on behalf of Children’s National at the HIMSS Awards gala at the Wynn in Las Vegas in March.
Facial recognition technology developed and tested by researchers with the Sheikh Zayed Institute for Pediatric Surgical Innovation and Rare Disease Institute at Children’s National was the runner up in this year’s STAT Madness 2018 competition. Garnering more than 33,000 overall votes in the bracket-style battle that highlights the best biomedical advances, the Children’s National entry survived five rounds and made it to the championship before falling short of East Carolina University’s overall vote count.
Children’s entry demonstrates the potential widespread utility of digital dysmorphology technology to diverse populations with genetic conditions. The tool enables doctors and clinicians to identify children with genetic conditions earlier by simply taking the child’s photo with a smartphone and having it entered into a global database for computer analyses.
The researchers partnered with the National Institutes of Health National Human Genome Research Institute and clinicians from 20 different countries to acquire pictures from local doctors for the study. Using the facial analysis technology, they compared groups of Caucasians, Africans, Asians and Latin Americans with Down syndrome, 22q11.2 deletion syndrome (also called DiGeorge syndrome) and Noonan syndrome to those without it. Based on more than 125 individual facial features, they were able to correctly identify patients with the condition from each ethnic group with more than a 93 percent accuracy rate. Missed diagnoses of genetic conditions can negatively impact quality of life and lead to premature death.
Children’s National also was among four “Editor’s Pick” finalists, entries that span a diverse range of scientific disciplines. Journalists at the digital publication STAT pored through published journal articles for 64 submissions in the single-elimination contest to honor a select group of entries that were the most creative, novel, and most likely to benefit the biomedical field and the general public.
Each year, 1 million children are born worldwide with a genetic condition that requires immediate attention. Because many of these children experience serious medical complications and go on to suffer from intellectual disability, it is critical that doctors accurately diagnose genetic syndromes as early as possible.
“For years, research groups have viewed facial recognition technology as a potent tool to aid genetic diagnosis. Our project is unique because it offers the expertise of a virtual geneticist to general health care providers located anywhere in the world,” says Marius George Linguraru, D.Phil., M.A., M.S., a Sheikh Zayed Institute for Pediatric Surgical Innovation principal investigator who invented the technology. “Right now, children born in under-resourced regions of the U.S. or the world can wait years to receive an accurate diagnosis due to the lack of specialized genetic expertise in that region.”
In addition to providing patient-specific benefits, Marshall Summar, M.D., director of Children’s Rare Disease Institute that partners in the facial recognition technology research, says the project offers a wider societal benefit.
“Right now, parents can endure a seemingly endless odyssey as they struggle to understand why their child is different from peers,” says Dr. Summar. “A timely genetic diagnosis can dispel that uncertainty and replace it with knowledge that can speed patient triage and deliver timely medical interventions.”
Next-generation medical education looks like this: A white-coat wearing avatar with the voice, face, and know-how of one of the nation’s leading infectious disease experts walks you through the twists and turns of how to diagnose malaria, making stops in a variety of hospital settings. If you make the right diagnostic and treatment decisions, you get instantaneous gold stars. If your choices are off-the-mark, at each decision point you get a clear explanation of why your answer was incorrect.
“This is the future of medical education,” says Barbara Jantausch, M.D., F.A.A.P., F.I.D.S.A., an infectious disease specialist at Children’s National Health System. She’s the female avatar with the John Travolta dance moves and expertise about malaria’s epidemiology, diagnosis, and treatment.
Dr. Jantausch will present a poster, “The Hot Zone: An Online Decision-Centered Vignette Player for Teaching Clinical Diagnostic Reasoning Skills,” during IDWeek 2016, the annual meeting of the Infectious Diseases Society of America. “It’s case-based, interactive e-learning where you choose your own adventure. The beauty of this module is the training can be self-directed,” Dr. Jantausch adds.
“At Children’s National, we’re pioneering the effort to build discovery-based learning platforms,” says Jeff Sestokas, Director of eLearning. In the vignette player, he’s the male avatar named Dr. Bear. Malaria is the first infectious disease training module but others are planned for the global health series, including Chagas disease and Zika virus, Sestokas says.
Identifying the illness
According to the Centers for Disease Control & Prevention (CDC), in 2015 an estimated 214 million people around the world had malaria, a mosquito-borne illness, and 438,000 of them died. Because of the lengthy incubation period, many international travelers do not show malaria symptoms until they return to the United States and experience flu-like symptoms including high fevers, shaking chills, and dehydration. Their lab results may include metabolic acidosis, hypoglycemia, normocytic anemia, or thrombocytopenia. At Children’s, 25 percent of children admitted with travel-related malaria are admitted to the intensive care unit.
“This started as a way to offer people in areas that do not see as many patients with malaria an opportunity to learn the same critical thinking skills,” she adds.
People who click through the vignettes play the role of a clinician working in the emergency department whose patients include a 10-year-old girl who has just returned from vacation two weeks prior. The exhausted girl lies on a bed amid weeping parents and grandparents. She suffers from a headache and muscle pain and has a 39.8 C fever, though it spiked higher before her arrival at the ED.
“Because symptoms for malaria can mimic other infectious diseases, clinicians need to be able to recognize it in order to ask the most appropriate questions,” she says.
Making real-time decisions
In the vignette, participants are asked to type additional questions to help with diagnosis. Then, they select one of three geographic regions to explore in the 20-minute module in order to gain a better appreciation of the epidemiology of malaria, including the Plasmodium species that cause disease in those regions; to recognize a patient with symptoms of malaria; and to manage their care in keeping with the CDC’s guidance.
Within a few clicks, participants select the degree of the girl’s parasitemia, view slides from thick and thin blood smears, choose the medicine best suited for the parasite causing illness and geographic region the family visited, and decide on follow-up care.
“The timed sections force decision-making in real-world situations,” Sestokas adds. “Behind the scenes, we can look at how well clinicians recognize the subtleties prior to making their decisions and we provide feedback in real-time. Ultimately, our goal is to stimulate deliberate, reflective practices.”
Recent medical breakthroughs have enabled very premature infants and children with rare genetic and neurological diseases to survive what had once been considered to be fatal conditions. This has resulted in a growing number of children with medically complex conditions whose very survival depends on ongoing use of technology to help their brains function, their lungs take in oxygen, and their bodies remain nourished.
“Many pediatricians care for technology-dependent children with special health needs,” says Neha Shah, M.D., M.P.H., an associate professor of pediatrics in the Division of Hospitalist Medicine at Children’s National Health System. “These kids have unique risks – some of which may be associated with that life-saving device malfunctioning.” Because there is no standard residency training for these devices, many clinicians may feel ill-equipped to address their patients’ device-related issues. To bridge that training gap, Dr. Shah and co-presenters, Priti Bhansali, M.D., M.Ed., and Anjna Melwani, M.D., will lead hands-on simulation training during the American Academy of Pediatrics 2016 National Conference.
“Inevitably, these things happen at 3 in the morning,” Dr. Shah adds. “Individual clinicians’ skill level and comfort with the devices varies. We should all have the same core competency.”
How the training works
During the simulation, the audience is given a specific case. They have eight minutes to troubleshoot and resolve the issue, using mannequins specially fitted with devices, such as trach tubes and feeding tubes, in need of urgent attention. Depending on their actions, the mannequin may decompensate with worsened breathing and racing heartbeats. The high-stakes, hands-on demo is followed by a 12-minute debrief, a safe environment to review lessons learned. Once they complete one simulation, attendees move to the next in the series of four real-life scenarios.
“We’ve done this a few times and my heart rate still goes up,” Dr. Shah admits. After giving similar training sessions at other academic meetings, participants said that having a chance to touch and feel the devices and become familiar with them in a calm environment is a benefit.
Dr. Shah came up with the concept for the hands-on training by speaking with a small group of peers, asking about how comfortable they felt managing kids with medical complex cases. The vast majority favored additional education about common devices, such as gastronomy tubes, tracheostomy tubes, and ventriculoperitoneal shunts. In addition to the in-person training, the team has created a web-based curriculum discussing dysautonomia, spasticity, gastroesophageal reflux disease, enteric feeding tubes, venous thromboembolism, and palliative care, which they described in an article published in the Fall 2015 edition of the Journal of Continuing Education in the Health Professions.
“Most times, clinicians know what they need to do and the steps they need to follow. They just haven’t done it themselves,” Dr. Bhansali adds. “The simulation forces people to put their hands on these devices and use them.”
AAP 2016 presentations:
Saturday, October 22, 2016
- W1059- “Emergencies in the Technology-Dependent Child: What Every Pediatrician Should Know” 8:30 a.m. to 10 a.m. (SOLD OUT)
- W1131- “Emergencies in the Technology-Dependent Child: What Every Pediatrician Should Know” (Encore) 2 p.m. to 3:30PM
Technology developed in the Sheikh Zayed Institute for Pediatric Surgical Innovation at Children’s National has been named one of the 12 Most Important Health Innovations of the Year in the November/December 2016 issue of Popular Science. Smart Tissue Autonomous Robot (STAR), a technology that performed the first supervised, autonomous robotic soft tissue surgery on a live subject (in vivo) this year, has been awarded a 2016 Popular Science Best of What’s New Award in the Health category.
How the smart tissue autonomous robot works
STAR removes the surgeon’s hands from the procedure, instead utilizing the surgeon as supervisor, with soft tissue suturing autonomously planned and performed by the STAR robotic system. The system integrates near infrared florescent (NIRF) markers and 3-D plenoptic vision to provide uninhibited tracking of tissue motion. This tracking is combined with an intelligent algorithm that autonomously adjusts the surgical plan in real time as tissue movements occur.
About Popular Science health innovations of the year
Each year, the editors of Popular Science review thousands of products in search of the top 100 tech innovations of the year—breakthrough products and technologies that represent a significant leap in their categories.
The Best of What’s New awards honor the innovations that shape the future,” says Kevin Gray, Executive Editor, Popular Science. “From lifesaving technology to incredible space engineering to gadgets that are just breathtakingly cool, this is the best of what’s new.”
The fourth annual U.S. News & World Report Healthcare of Tomorrow conference will take place on Nov. 2 in Washington, DC. The leadership forum, which examines challenges in health care and how we must evolve with policies, society, and technology, will hold children’s hospital sessions for the first time. The topics will include pediatric population health, patient safety, strategic partnerships, and genomic medicine. Children’s National’s David Wessel, M.D., executive vice president and chief medical officer, hospital and specialty services, is scheduled to speak during the event.
The Interventional Cardiac Magnetic Resonance (ICMR) Program at Children’s National is actively developing newer and safer ways to perform cardiac procedures on young patients, with some of the world’s leading experts in cardiac catheterization and imaging. Elena Grant, M.D., a former pediatric cardiology fellow at Children’s National, is the newest member to join the team that pioneered real-time MRI-guided radiation-free cardiac catheterization for children.
In addition to clinical work as a Children’s National Interventional Cardiologist, Dr. Grant will perform preclinical research at the National Institutes of Health to develop new procedures, techniques, and devices that can be translated to clinical practice to treat children and adults with congenital heart disease.
Dr. Grant specializes in interventional cardiology. She received her medical degree from the University of Dundee Medical School in Dundee, Scotland, followed by Foundation Training in Edinburgh, Scotland. She completed her pediatric residency at Massachusetts General Hospital, her Pediatric Cardiology fellowship at Children’s National, and she recently finished an advanced fellowship in interventional pediatric cardiology at Children’s Healthcare of Atlanta and Emory University.
Advances in interventional cardiovascular MRI
Children’s National is at the forefront of this exciting new field and is currently the only institution in the United States to perform radiation-free MRI-guided cardiac catheterization procedures in children.
ICMR is a partnership with the National Institutes of Health that brings together researchers, clinicians, engineers, and physicists to provide radiation-free, less invasive, and more precise diagnostics and treatment options for pediatric patients and adults with congenital heart disease.
The ICMR approach to heart catheterization uses real-time MRI, instead of X-ray, in pediatric research subjects undergoing medically necessary heart catheterization. This research study is intended as a step toward routine MRI-guided catheterization in children, which attempts to avoid the hazards of ionizing radiation (X-ray).
In 2015, after working with NIH to explore how interventional cardiovascular MRI could be integrated into pediatric practices, the ICMR team, including Dr. Grant, Russell Cross, M.D., Joshua Kanter, M.D., and Laura Olivieri, M.D., performed the first radiation-free MRI-guided right heart catheterization on a 14-year-old girl at Children’s National. Since then, nearly 50 such procedures have been successfully completed, and the team is working to broaden the age range and cardiac disease complexity of patients who can undergo the procedure.
About 1 percent of newborns are born with a heart condition, and the team at Children’s performs more than 450 X-ray guided cardiac catheterizations and over 500 cardiac MRI scans per year.
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