Purple Day: Raising Awareness, Ending Stigma of Epilepsy

Mar 28, 2024 | Featured, Research, Your Health

Every year on March 26, people and organizations around the world band together in solidarity for Purple Day. They wear purple and host events to raise awareness about epilepsy, with the goal of ending its stigma. For Purple Day this year, we got together experts from the Mount Sinai Health System to explain what epilepsy is and answer other top questions people might have.

Is epilepsy contagious?
“You cannot spread epilepsy from one person to the other,” says pediatric neurologist Natasha Acosta Diaz, MD, Assistant Professor of Neurology at the Icahn School of Medicine at Mount Sinai.

Epilepsy is not an infection. It is a neurological condition characterized by seizures caused by abnormal brain electrical activity, says Dr. Acosta Diaz.

Is epilepsy electroencephalogram (EEG) testing painful?
In a standard EEG test, electrodes—small metal discs—are attached to the scalp with the help of a glue. The EEG test is not painful, says Anuradha Singh, MD, Director of the Epilepsy Monitoring Unit, and Professor of Neurology at Icahn Mount Sinai.

EEG tests study brain rhythms to look for any sign of irritability.  A standard EEG test records these brain rhythms for 20 minutes to an hour, says Dr. Singh. “Sometimes you get a little glue left on your scalp but it’s not painful at all,” she adds.

Is epilepsy surgery dangerous?
“The myths about the danger of epilepsy surgery come from the past, from about the last 100 years or so,” says neurosurgeon Fedor Panov, MD, Director of the Adult Epilepsy Surgery Program and Associate Professor of Neurosurgery at Icahn Mount Sinai. “What you currently find on the internet (about the dangers) unfortunately is not appropriate and it just perpetuates this myth that epilepsy surgery is dangerous,” he notes.

Epilepsy surgery has its risks and benefits. “Most certainly, the benefits outweigh the risks,” says Dr. Panov. As the epilepsy care team might phrase it to patients, the risk of going through a year with epileptic seizures far outweighs the risk of a surgical intervention to cure the epilepsy, he says.

Can epilepsy seizures be triggered by flashing lights?
There is a type of epilepsy that can be triggered by flashing lights, called photosensitive epilepsy. “However, this is very rare,” says Dr. Acosta Diaz.

When testing a patient for epilepsy, flashing lights are used to see if they provoke a seizure, and if so, appropriate recommendations for care can be given, she adds.

Can people with epilepsy drive a car?
“You can drive a car if you’re seizure-free,” says Dr. Singh. However, different states can have different rules and regulations. People with epilepsy will have to check with their state’s Department of Motor Vehicles, she notes.

What are some epilepsy surgical options?

Vagal nerve stimulator
Involves placing a small wire around a nerve in the neck to decrease seizure activity. The wire is attached to a small battery inserted under the skin of the chest.

Stereotactic laser ablation
Uses lasers to remove a part of the temporal lobe of the brain to help control seizures. The procedure is guided by magnetic resonance imaging (MRI), allowing for very precise cuts and removal.

Staged craniotomy
A two-stage surgery that involves removal of part of the skull to expose the brain, followed by removal of the brain tissue that is causing the seizures. Removing the damaged part of the brain does not cause deficits, as other parts of the brain adapt and pick up function. The procedure improves the overall brain network because it allows the healthy areas to work without constant electrical interference from the seizure “hot spot.”

Responsive neurostimulation
A device is implanted that automatically records and detects electrographic seizures, then rapidly delivers electrical stimulation to suppress seizure activity. It is the first device that the U.S. Food and Drug Administration has approved for use in the brain to listen, learn, and respond to seizures.

Can people with epilepsy have a job?
“Absolutely,” says Dr. Panov. “It’s a myth to say you cannot work if you have seizures.” Epilepsy care teams are available to help patients be a part of their community, including having and holding jobs. The Americans with Disabilities Act prohibits discrimination against people with disabilities in several areas, including employment.

While it is not mandatory that people with epilepsy disclose their condition to employers or coworkers, it is recommended that someone at the workplace is aware, says Dr. Acosta Diaz. “Just in case you have a seizure, somebody can be with you or help you,” she says.

Can people with epilepsy have children?
People with epilepsy can have happy, healthy children, says Dr. Singh. Women with epilepsy should work with their OB/GYN and epileptologist to ensure they’re on the safest drugs for the pregnancy, says Dr. Singh.

Can people with epilepsy stop taking medications when seizures stop?
The goal of any Comprehensive Epilepsy Center is to get patients seizure-free, and ultimately off the medications, says Dr. Panov: “The idea is that you will come off your meds once the seizures stop.”

It is important, however, that patients do not stop taking medications without discussing with their specialists, says Dr. Singh. A lot of factors go into the consideration of stopping medications, including EEG results and MRI scans, so that process should be done in consultation with an epileptologist.

Can people with epilepsy swallow their tongue?
“No way, there’s no way that you’re going to swallow your tongue,” says Dr. Acosta Diaz. During a seizure, the tongue can go to the side of the mouth and people can accidentally bite their tongue. To assist someone with a seizure, be calm and lay the person on the side, and definitely do not put anything in the mouth, such as a spoon, she says.

Does a ketogenic diet help people with epilepsy?
It does, in certain cases, says Dr. Singh. A ketogenic diet is a high-fat, adequate-protein, and low-carbohydrate diet. It is more often used in pediatric epilepsy, especially for children in whom medications do not work well, says Dr. Acosta Diaz.

Ketosis, a state where the body derives its sources of energy from fat rather than glucose, is known to have anticonvulsant properties. However, it’s not easy for a person to enter into ketosis. That is why an epilepsy care team involves overseeing a patient’s metabolism and nutrition as well, notes Dr. Acosta Diaz. “It’s not something you can try by yourself at home. It’s not just doing a keto diet to lose weight,” she says.

Caring for people with epilepsy is a team effort. At the Mount Sinai Epilepsy Center, staff members across all levels of care work together to provide exceptional care. Here’s the Center at a glance:

100+ team members

• Adult epileptologists  • Pediatric epileptologists  • Neurosurgeons  • Neuropsychiatrists  • Neuroradiologists  • Nurse practitioners  • Neurosurgery  • NPs and PAs  • Researchers  • Registered nurses  • Social workers  • Dietitians  • Recreational therapists  • EEG technicians  • Administrative staff

 

 

Designated as a Level 4 medical facility by the National Association of Epilepsy Centers (NAEC), which is the highest recognition of care and expertise for people with epilepsy

Three inpatient Level 4 epilepsy centers at The Mount Sinai Hospital, Mount Sinai Kravis Children’s Hospital, and Mount Sinai West, and six outpatient locations in New York City and Long Island.

ABRET-certified labs

Five Mount Sinai sites have received American Board of Registration of Electroencephalographic and Evoked Potential Technologists (ABRET) Lab accreditation for achieving highest levels of quality and competence performing neurodiagnostic tests.

In 2023

The Mount Sinai Health System performed more than 13,000 electroencephalograms and completed 100 surgeries to reduce or eliminate seizures for adult and pediatric patients.

To call the Mount Sinai Epilepsy Center

212-241-2627

In addition to treating patients with epilepsy, the Mount Sinai Health System and Icahn Mount Sinai conduct research to push the frontiers of understanding the neurological conditions and what is possible with treatment. Here are some examples of what Mount Sinai is doing to further science in epilepsy.

Clinical trial: Epilepsy associated with Lennox-Gastaut syndrome

Lennox-Gastaut syndrome (LGS) is a severe form of epilepsy, with seizures beginning in early childhood. To treat seizures that have not been well controlled through conventional medication, researchers are using novel responsive neurostimulation (RNS) strategies. This is the first clinical trial using RNS for LGS.

The trial is supported by a five-year grant from the National Institutes of Health, and conducted in collaboration with five other centers in the United States.

Click here for more info.

Clinical trial: Efficacy of subanesthetic doses of IV ketamine for treatment-resistant epilepsy

Ketamine is an anesthetic that provides pain relief, and came into clinical use in the 1960s. In a hospital setting, ketamine is used intravenously at anesthetic doses to treat unrelenting seizures known as status epilepticus in comatose patients. Mount Sinai researchers are exploring using ketamine at subanesthetic doses in an outpatient setting for patients who have treatment-resistant epilepsy. With subanesthestic dose-ketamine recently approved by the FDA for treatment-resistant depression, researchers are optimistic about its safety, and are hopeful that this will provide relief for patients with hard-to-treat epilepsy as well.

Click here for more info.

Clinical trial: Phase 3 trial for a once-daily, oral treatment for those living with focal seizures (XTOLE2)

Focal seizures are when brain cells on one side of the brain malfunction, causing symptoms, and are considered the most common type—making up more than half of all seizures. Symptoms could include one or more of the following: motor, sensory, autonomic, or cognitive. While treatment can stop or reduce the frequency of the seizures, for some patients, current treatment options may be insufficient. Mount Sinai is participating in a Phase 3 study with Xenon Pharmaceuticals to explore the use of XEN1101, a potassium channel opener, along with the patient’s existing medication, for focal seizures. Clinical data from previous trials have shown up to around 50 percent reduction in focal seizures among participants who have received the drug.

Click here for more info.

Clinical trial: Phase 3 trial for Staccato® Alprazolam in participants 12 years and older with stereotypical prolonged seizures

Benzodiazepines are more commonly known for treating anxiety or panic disorders, but they can also be used to terminate most seizures in an inpatient setting. Approved therapies include a rectally-administered gel and intranasal formulations. However, there are no approved treatments for rapidly terminating an ongoing seizure in an outpatient setting. Mount Sinai is participating in a Phase 3 trial with pharmaceutical company UCB to study the effectiveness and safety of Staccato® Alprazolam, a breath-triggered device that delivers the benzodiazepine deep into the lung for rapid absorption and systemic exposure, with the goal of achieving rapid epileptic seizure termination (REST). In a previous clinical trial, in an inpatient setting, nearly 66 percent of participants who received the drug responded to the treatment, compared to 43 percent of participants who received a placebo. For participants who responded to the intervention, the Staccato® Alprazolam group saw seizure cessation in a median time of 30 seconds, compared to 60 seconds for those who had received a placebo. The Phase 3 trial tests the treatment in an outpatient setting.

Click here for more info.

Clinical trial: Electrographic seizure pattern modulation biomarkers in responsive neurostimulation for epilepsy

Although the therapeutic benefit of RNS is well established, predicting how well and when a patient might respond to the device is difficult. It may take several months for a patient to report a reliable change in seizure status, during which time the programming clinician has no objective guidance regarding whether or not to adjust settings. RNS devices can provide EEG recordings, offering an insight to seizure patterns, but there is little knowledge about how to use these recordings in individual patients. Thus, a critical need exists to develop methods for using a patient’s own data to predict when seizure reduction should be expected or to confirm objectively the presence and maintenance of a clinical response.

Icahn Mount Sinai researchers are working with Massachusetts General Hospital to apply machine learning, neurostatistics, and data science to improve the effectiveness of RNS, especially for children and adults who are not considered suitable surgical candidates.

Click here for more info.

Laboratory for Human Neurophysiology

The Laboratory for Human Neurophysiology seeks to understand how human cognition arises from the interaction of multiple brain areas and neurotransmitter systems, particularly in decision-making behavior. These research efforts involve studying prefrontal cortical and subcortical areas directly in the human brain by conducting intracranial electrophysiology recordings in patients undergoing neurosurgical treatment.

Ongoing research projects in the laboratory include investigating the neural basis of human decision-making under uncertainty using distributed intracranial EEG recordings in epilepsy patients, decoding overt subject behavior from preceding, distributed brain activity in reward-related brain regions, and studying reward and mood processing across multiple brain areas in epilepsy patients with and without comorbid depression. The lab is led by Ignacio Saez, PhD, Associate Professor of Neuroscience, Neurosurgery, and Neurology at Icahn Mount Sinai.

Click here to read more about the lab.

Nursing Research Day Highlights the Integral Role Nursing Plays in Advancing Knowledge and Practice

Updated on Mar 28, 2024 | Featured, Nursing, Research

Nurses play an integral role in ensuring successful transitions across settings of care, stages of health, and seasons of life. Their essential contributions extend far beyond direct patient care, with nurse researchers and policy experts leading critical advances in knowledge and practice.

Recently, this research has helped ensure the inclusion of a family caregiver’s name in the medical record of every hospital inpatient upon admission, highlighted the contributors of burnout associated with working in a stressful environment, and produced many other findings and innovations that have translated into better care for patients.

These important contributions to research were highlighted during the Mount Sinai Health System’s Nursing Research Day, organized by the Center for Nursing Research and Innovation (CNRI) at Mount Sinai. Hundreds of nurses participated in the program, which featured nationally renowned experts in research and policy, and 30 poster presentations representing the work of 127 Mount Sinai nurses and colleagues across the greater New York region.

The full-day symposium was held at the Icahn School of Medicine at Mount Sinai and streamed throughout the Health System on Friday, November 10, 2023. The theme was “Crossing the Divide: The Role of Nursing in Navigating Transitions of Care.”

“Thanks to our wonderful planning committee made up of colleagues from across the Health System, Nursing Research Day highlighted research that is shaping nursing practice and policy across the United States at the intersection of community resources and support,” says Bevin Cohen, PhD, MPH, MS, RN, Associate Professor of Geriatric and Palliative Medicine at Icahn Mount Sinai and Director of the CNRI. “It was especially inspiring to see research conducted by our own nursing staff colleagues, who are dedicated to advancing patient care and making a difference in the lives of patients and their families.”

Attendees were welcomed by leaders from across the Health System, including Beth Oliver, DNP, RN, FAAN, Senior Vice President and Chief Nurse Executive, every Chief Nursing Officer, and David Reich, MD, President, Mount Sinai Hospital and Mount Sinai Queens. Dr. Reich shared that one of the highlights of his career has been working with an academic Department of Nursing committed to research that immediately translates into better care for patients. Linda Valentino, DNP, RN, Chief Nursing Officer, Mount Sinai Hospital, and Jill Goldstein, MA, MS, RN, Vice President Patient Services and Deputy Chief Nurse Officer, Mount Sinai Queens, were on site for much of the day to welcome nurses and thank them for their dedication to taking on challenging projects that advance practice.

Kicking off the formal agenda, keynote speaker Susan Reinhard, PhD, RN, FAAN, Senior Vice President and Director, AARP Public Policy Institute and Chief Strategist, Center to Champion Nursing in America and Family Caregiving Initiatives, presented “Health Care Transitions: Translating Research into Policy and Practice.” Dr. Reinhard’s extensive work focuses on advocating for the more than 50 million family caregivers in the United States. Her research contributed to the enactment of the Caregiver Advised Record and Enable (CARE) Act in 46 U.S. states and territories, ensuring the inclusion of a family caregiver’s name in the medical record of every hospital inpatient upon admission. Beyond data collection, Dr. Reinhard emphasized what it takes to be successful in research, including humanizing the data, engaging stakeholders, garnering media attention, and delving deeper into findings. Her research produced an evidence-based video series available online and for free to caregivers.

Shifting from a focus on caregiving to caring for caregivers, clinical psychologist Jonathan DePierro, PhD, Associate Professor of Psychiatry, Icahn Mount Sinai, and Associate Director, Center for Stress, Resilience, and Personal Growth, presented “Research-Driven Insights into Nursing Resilience, Mental Health, and Retention.” Dr. DePierro shared his team’s research on the individual and systematic contributors of burnout associated with working in a very high-stress, high-demand environment. He also outlined innovative programming offered through the Center and the Office of Well-Being and Resilience, which has the most comprehensive services to support clinician wellbeing in the nation.

The morning’s program also included presentations by the Evidenced-Based Practice Fellows at the Mount Sinai Phillips School of Nursing, which featured ABSN student Caroline Quinn’s findings on screening and intervening for postpartum depression and ABSN student Batsheva Weinberger’s findings on pediatric preoperative anxiety. This was followed by a robust poster session highlighting findings from nurses across the Health System, which can be found here. Select abstracts presented during the poster sessions will be published in a special issue of Practical Implementation of Nursing Science (PINS). Published by Mount Sinai’s Levy Library Press, PINS is an open access, peer-reviewed journal designed specifically for clinical nurses and nurse leaders to disseminate findings from the practice setting.

Dora Clayton-Jones, PhD, RN, CPNP-PC, FAAN

The afternoon programming began with a keynote address titled “Utilizing Community Assets to Support Self-Management in Health Care Transitions,” given by Dora Clayton-Jones, PhD, RN, CPNP-PC, FAAN, Associate Professor, Marquette University College of Nursing, and Immediate Past President, International Association of Sickle Cell Nurses and Professional Associates.

An accomplished clinician and nurse researcher, Dr. Clayton-Jones shared lessons learned from growing up on the West Side of Chicago, where she was influenced by a grandmother who involved her in community service activities to address food insecurity. “One thing that I learned was how to make it easy for people to ask for assistance,” said Dr. Clayton-Jones. “How easy are we making it for individuals to reach out for help when they need help?”

She encouraged participants to translate any lessons or approaches they could learn from her work in sickle cell disease—which effects millions worldwide—into their own practices and specialties. Following a general overview of sickle cell disease and the importance of a gradual and uninterrupted transition from pediatric to adult care, Dr. Clayton-Jones addressed her deep passion for community engagement, with a focus on leveraging community assets, translating community engagement activities into interventions, and the impact of community driven self-management interventions.

A panel discussion followed between Dr. Clayton-Jones and the Mount Sinai Comprehensive Sickle Cell Program leadership, including Director Jeffrey Glassberg, MD, MA, and nurse practitioners Charleen Jacobs, PhD, RN, ANP-BC, and Brittany McCrary, MS, AGPCNP-BC, RN-BC. This conversation touched upon Dr. Clayton-Jones’ career path and approaches to surmounting challenges, community involvement, lifelong learning, research, and funding.

Shifting the focus to innovations at Mount Sinai’s own Transitions of Care Center, Carl Jin, MSN, MPA, RN-BC, CCM, Director of Clinical Services, and Arzellra Walters, MA, CPNP, RN, Nurse Manager, presented “A Comprehensive Approach to Transitions of Care: The Expansion of the Transitions of Care Center’s Intervention.”

The Transitions of Care Center is a centralized discharge program staffed by Mount Sinai nurses trained in hospital discharge protocols to promote smooth transitions across levels of care. The ultimate goal is to prevent avoidable readmissions, with a focus on key diagnoses including acute myocardial infarction, chronic obstructive pulmonary disease, heart failure, pneumonia, coronary artery bypass grafting, and major joint replacement surgery. Transitioning between levels of care can be stressful, burdensome, and expensive for patients, caregivers, insurers, and hospitals. Mount Sinai’s Transitions of Care Center is testing the effects of a new model that eases the transition from hospital to home and reduces the risk of readmission.

The day concluded with a presentation about Mount Sinai’s exciting new national research training program for Doctor of Nursing Practice (DNP) students, Translational Research and Implementation Science for Nurses (TRAIN). Kimberly Souffront, PhD, RN, FNP-BC, FAAN, Associate Professor of Emergency Medicine at Icahn Mount Sinai and Associate Director of the CNRI, who is Principal Investigator of TRAIN along with Dr. Cohen, provided an overview of this first-of-its-kind program.

TRAIN supports DNP students from underrepresented minority communities and disadvantaged backgrounds to become experts in translating research into clinical practice. The program is funded by a five-year grant from the National Heart, Lung, and Blood Institute (NHLBI) of the National Institutes of Health, and its first annual cohort will begin this summer.

Learn more about the Translational Research and Implementation Science for Nurses (TRAIN) program

2024 Jacobi Medallion Award Ceremony

Updated on Mar 25, 2024 | Community, Featured, Research

Seated, from left: Helen M. Fernandez, MD, MPH, MSH ’01; Marla C. Dubinsky, MD; Emma Guttman-Yassky, MD, PhD; Roxana Mehran, MD, MSH ’95; and Stephen Harvey, CPA, MBA. Standing, from left: Dennis Charney, MD, Anne and Joel Ehrenkranz Dean, Icahn School of Medicine at Mount Sinai; Stuart A. Aaronson, MD; Peak Woo, MD; Mark Kostegan, FAHP; Kirk N. Campbell, MD; Sandra K. Masur, PhD, FASCB; Brendan G. Carr, MD, MA, MS, Chief Executive Officer of the Mount Sinai Health System; and Leo M. Keegan, MD, MSSM ’86, MSH ’94. Not pictured: Jeremy H. Boal, MD, MSH ’96

The Mount Sinai Alumni Association and Icahn School of Medicine at Mount Sinai presented accomplished physicians, researchers, educators, and administrators with the 2024 Jacobi Medallion, one of Mount Sinai’s highest awards. The annual ceremony was held Thursday, March 14, at the Plaza Hotel.

The recipients of the Jacobi Medallion have made exceptional contributions to the Mount Sinai Health System, Icahn Mount Sinai, the Mount Sinai Alumni Association, or the fields of medicine or biomedicine.

Watch the ceremony

View the digital program

Watch the In Memoriam video

Stuart A. Aaronson, MD

Founding Chair Emeritus, Department of Oncological Sciences

Jane B. and Jack R. Aron Professor of Neoplastic Diseases, Icahn School of Medicine at Mount Sinai

Associate Director for Basic and Translational Research, The Tisch Cancer Institute’s NCI-designated Cancer Center

Watch a video of Dr. Aaronson

Jeremy H. Boal, MD, MSH ’96

Executive Vice President and Chief Clinical Officer, Mount Sinai Health System, and President of Mount Sinai Beth Israel and Downtown until December 2023

Department of Population Health Science and Policy

Watch a video of Dr. Boal

Kirk N. Campbell, MD

Irene and Dr. Arthur M. Fishberg Professor of Medicine in the Division of Nephrology

Professor of Pharmacological Sciences

Founding Director of the Center for Kidney Disease Innovation

Icahn School of Medicine at Mount Sinai

Watch a video of Dr. Campbell

Marla C. Dubinsky, MD

Professor of Pediatrics and Medicine, Icahn School of Medicine at Mount Sinai

Chief of Pediatric Gastroenterology and Nutrition, Mount Sinai Kravis Children’s Hospital

Co-Director of the Susan and Leonard Feinstein IBD Clinical Center

Co-Director of the IBD Preconception and Pregnancy Planning Clinic at Mount Sinai

Watch a video of Dr. Dubinsky

Helen M. Fernandez, MD, MPH, MSH ’01

Vice Chair of Education, Brookdale Department of Geriatrics and Palliative Medicine

Icahn School of Medicine at Mount Sinai

Watch a video of Dr. Fernandez

Emma Guttman-Yassky, MD, PhD

Waldman Professor of Dermatology and Immunology

Health System Chair of the Department of Dermatology

Director, Center for Excellence in Eczema and the Laboratory for Inflammatory Skin Diseases

Icahn School of Medicine at Mount Sinai

Watch a video of Dr. Guttman-Yassky

Stephen Harvey, CPA, MBA

Chief Financial Officer, Mount Sinai Health System

Watch a video of Mr. Harvey

Mark Kostegan, FAHP

Chief Development Officer and Senior Vice President for Development at Mount Sinai

Watch a video of Mr. Kostegan

Roxana Mehran, MD, MSH ’95

Professor of Medicine

Director of Interventional Cardiovascular Research and Clinical Trials, Zena and Michael A. Wiener Cardiovascular Institute

Icahn School of Medicine at Mount Sinai

Watch a video of Dr. Mehran

Peak Woo, MD

Clinical Professor, Department of Otolaryngology and Head and Neck Surgery

Icahn School of Medicine at Mount Sinai

Watch a video of Dr. Woo

Learn more about Alumni at Mount Sinai

The Center for Advanced Medical Simulation at Mount Sinai West Hosts Annual Tristate Regional Simulation Symposium May 17

Mar 20, 2024 | Community, Research

The Center for Advanced Medical Simulation (CAMS) at Mount Sinai West is hosting its pioneering annual Tristate Regional Simulation Symposium. The symposium is scheduled for Friday, May 17, from 11 am to 2 pm, using a live online format.

The theme for this eighth annual symposium is “Embracing Change: How Artificial Intelligence (AI) Can Influence Health Care Simulation.” The symposium will include plenary talks, data-driven presentations, and panel discussions.

“Together, we will explore AI possibilities to enhance patient safety, team performance, and outcomes in simulation-based education and powerfully affirm everything that is most striking about simulation that we do at our institutions and worldwide,” said Priscilla V. Loanzon, EdD, RN, CHSE, Director of Simulation Education, Center for Advanced Medical Simulation, and Assistant Professor of Medicine (Pulmonary, Critical Care, and Sleep Medicine) at the Icahn School of Medicine at Mount Sinai.

Since the pandemic, the format for the symposium has changed from a full-day onsite and in-person conference to a three-hour live online. The target audience has expanded over the years from regional to national and international. Attendees can earn credits for continuing medical education and continuing education units.

CAMS is one of the Mount Sinai Health System’s outstanding simulation centers, all dedicated to improving patient safety, communication, and medical education. It provides health care training opportunities to professionals in the safe learning environment of a lab setting, offering courses that include case-based simulation, in-situ simulation, and procedural training such as point of care ultrasonography, central line training, blood culture competency, medical code response, managing mechanically ventilated patients, and advanced airway management. The Center includes three simulation laboratories, a virtual-reality training arcade, and two conference rooms. All areas of CAMS are equipped with audiovisual and video-recording equipment to facilitate education, training, debriefing, and research and quality improvement projects.

The Center, accredited by the Society for Simulation in Healthcare (SSH), is working with the Continuing Medical Education Department, Mount Sinai’s Office of Corporate Compliance and Office of Development.

To learn more about the symposium, contact Dr. Loanzon at priscilla.loanzon@mountsinai.org or call 212-523-8698.

The Society for Simulation in Healthcare declared September 11-15, 2017, as an inaugural simulation week with a focus on celebrating the professionals who work in health care simulation to improve the safety, effectiveness, and efficiency of health care.

“CAMS invited the simulation centers in the tristate area to a joint celebration through a symposium,” said Dr. Loanzon. “This inaugural celebration was intended to powerfully affirm the tristate region’s successes, opportunities, and myriad possibilities to be the best in what we do so well individually and collectively.”

Learn more about the Center for Advanced Medical Simulation

AI Spotlight: Predicting Risk of Death in Dementia Patients

Updated on Mar 22, 2024 | Featured, Research

Kuan-lin Huang, PhD, Assistant Professor of Genetics and Genomic Sciences at the Icahn School of Medicine at Mount Sinai

Dementia is a neurodegenerative disorder, commonly known to affect cognitive function—including memory and reasoning. It is also a factor contributing to death. According to the Centers for Disease Control and Prevention, dementia is currently the seventh leading cause of death in the United States. Alzheimer’s disease is the most common form of dementia, accounting for approximately 70 percent of cases.

Researchers have used artificial intelligence and machine learning to help diagnose and classify dementia. But less effort has been put into understanding mortality among patients with dementia.

A group of researchers at the Icahn School of Medicine at Mount Sinai seeks to tackle this problem by developing a machine learning model to predict risks of death for a patient within 1-, 3-, 5-, and 10-year thresholds of a dementia diagnosis.

“We really want to call attention to how Alzheimer’s disease is actually a major cause of death,” says Kuan-lin Huang, PhD, Assistant Professor of Genetics and Genomic Sciences and Principal Investigator of the Precision Omics Lab at Icahn Mount Sinai.

“When people think of dementia, they think of patients losing their memory, as opposed to when people think about cardiovascular disease or cancer, they think about mortality,” says Dr. Huang. “As someone who has a family member who unfortunately passed away from Alzheimer’s disease, I’ve seen how the late stage of the disease—because you lose certain bodily functions—can become quite lethal.” In late-stage dementia, the disease destroys neurons and other brain cells, which could inhibit swallowing, breathing, or heart rate regulation, or cause deadly associated complications such as urinary tract infections or falls.

In the study, the team focused on this question: Given a person’s age, specific type of dementia, and other factors, what will be the risk the person will end up passing within a certain number of years?

For its model, the team used XGBoost, a machine learning algorithm that utilizes “gradient boosting.” This algorithm is based on the use of many decision trees—“if-this, then-that”-type reasoning. It learns from errors made by previous simple trees and collectively can make strong predictions.

Here’s how the study’s lead authors, Jimmy Zhang and Luo Song in Dr. Huang’s research team, leveraged machine learning to shed light on mortality in dementia.

The study used data from more than 40,000 unique patients from the National Alzheimer’s Coordinating Center, a database spanning about 40 Alzheimer’s disease centers across the United States. The model achieved an area under the receiver operating characteristic curve (AUC-ROC) score of more than 0.82 across the 1-, 3-, 5-, and 10-year thresholds. Compared to an AUC-ROC of 0.5, which amounts to a random guess that correctly predicts 50 percent of the time, the model performed reasonably well in predicting a dementia patient’s mortality, but still has room for improvement. By conducting stratified analyses within each dementia type, the researchers also identified distinct predictors of mortality across eight dementia types.

Findings were published in Communications Medicine on February 28.

In this Q&A, Dr. Huang discusses the team’s research.

What was the motivation for your study?

We wanted to address the challenges in dementia care: namely, to identify patients with dementia at high risk of near-term mortality, and to understand the factors contributing to mortality risk across different types of dementia.

What are the implications?

Clinically, it supports the early identification of high-risk patients, enabling targeted care strategies and personalized care. On a research level, it underscores the value of machine learning in understanding complex diseases like dementia and paves the way for future studies to explore predictive modeling in other aspects of dementia care.

What are the limitations of the study?

While our study includes nationwide data, to make the model more generalizable, it still needs to be adapted to different research and clinical settings.

How might these findings be put to use?

These findings could enhance the care of dementia patients by identifying those at high risk of mortality for more personalized management strategies. On a broader scale, the study’s methodologies and insights could influence future research in predictive modeling for dementia, potentially leading to improved patient outcomes and more efficient health care systems.

What is your plan for following up on this study?

We plan to refine our dementia models by including treatment effects and genetic data, and exploring advanced deep learning techniques for more accurate predictions.

Learn more about how Mount Sinai researchers and clinicians are leveraging machine learning to improve patient lives

AI Spotlight: Mapping Out Links Between Drugs and Birth Defects

AI Spotlight: Guiding Heart Disease Diagnosis Through Transformer Models

First Gene Therapies Approved for Sickle Cell Disease: What Do They Spell for Patients?

Updated on Mar 1, 2024 | Featured, Research, Your Health

In December 2023, the U.S. Food and Drug Administration announced its approval of two gene therapies for sickle cell disease—the first of their kind for the condition.

Casgevy™ (exagamglogene autotemcel), a cell-based gene therapy developed by CRISPR Therapeutics using its CRISPR/Cas9 genome editing technology, was approved for use in patients 12 years and older with recurrent vaso-occlusive crises (VOCs). Lyfgenia™ (lovotibeglogene autotemcel), also a cell-based gene therapy by bluebird bio, was similarly approved for treating patients 12 and up with a history of VOCs; it uses a lentiviral vector for genetic modifications.

“This is absolutely a development that physicians treating sickle cell disease are excited about,” says Jeffrey Glassberg, MD, Professor of Emergency Medicine, and Medicine (Hematology and Medical Oncology), at the Icahn School of Medicine at Mount Sinai, and Director of the Mount Sinai Center for Sickle Cell Disease.

For a long time, sickle cell disease could only be cured with a bone marrow transplant, but that procedure involves challenges, starting with finding a match and also including the potential for complications, Dr. Glassberg says. “With these gene therapies, we’re taking stem cells from your own blood and taking it to a manufacturing facility to edit the DNA. When we give the stem cells back, you begin making new blood that’s yours without sickle cell disease,” he says. “This resolves a lot of the limitations of a bone marrow transplant.”

How do Casgevy and Lyfgenia work in curing sickle cell disease, and how do they differ from bone marrow transplants? Dr. Glassberg explains in this Q&A.

What goes on in a bone marrow transplant?

So with bone marrow transplant, you need a match. You need somebody to donate the bone marrow. While it’s unlike an organ transplant—where you’re waiting for an organ to become available either through a donation or after someone dies—there is a registry where people are willing to donate. However, finding a 100 percent match is tricky. If you’re lucky, you might have a sibling where their marrow matches perfectly. If not, it’s a rigorous search through this registry.

We can do bone marrow transplants with only half-matches, but those don’t work as well. And even for well-matched transplants, there remains the risk of developing a complication called graft-versus-host disease (GvHD). That is a condition where the donor immune cells recognize the host as foreign and attack the recipient’s body cells. GvHD can be pretty common—occurring in about 50 percent of cases—but only a small percentage turn into catastrophic GvHD.

Jeffrey Glassberg, MD, Director of the Mount Sinai Center for Sickle Cell Disease

What is sickle cell disease?

Sickle cell disease is a group of inherited blood disorders, where a mutation in hemoglobin—a protein in red blood cells that delivers oxygen to tissues—causes the red blood cells to develop a sickle shape. These sickled cells can restrict blood flow in blood vessels and deliver oxygen inefficiently, which can cause pain or organ damage—also known as vaso-occlusive crises. This condition affects approximately 100,000 people in the United States and is most common in Black people. Even with good management, the life expectancy of a person with sickle cell disease is around 50 years

How do the gene therapies avoid these issues?

With the gene therapies, the patient is essentially still going through a bone marrow transplant. The individual still receives a large amount of toxic chemotherapy to kill off existing stem cells, and receives new cells. However, the difference is that it is your own stem cells taken out and fixed. You are donating marrow to yourself, so it will always be a 100 percent match when reintroduced to your body and would not attack the host.

What are the technology differences behind the two gene therapies?

Casgevy uses CRISPR/Cas9, which is basically a protein discovered from bacteria that can cut tiny pieces out of your DNA. The therapy uses CRISPR to turn down a gene called BCL11A, which suppresses the production of fetal hemoglobin after babies are born and activates beta hemoglobin, which is affected by the sickle-cell mutation. By turning down that gene, the patient stops making adult hemoglobin and switches to making fetal hemoglobin.

Lyfgenia uses a lentivirus to create a so-called transgene. The lentivirus drops in a whole gene which contains instructions for producing functional hemoglobin. This approach produces a type of hemoglobin called HbAT87Q, which works even better than regular adult hemoglobin and can be identified with a lab test. The differentiation is helpful in telling exactly how well the gene therapy is working by the amount of HbAT87Q.

In a way, for both fetal hemoglobin and HbAT87Q, they work slightly better than regular hemoglobin for adults with sickle cell disease. Both have similar or slightly better oxygen-binding affinity, and each possesses “anti-sickling” globins that limit or inhibit hemoglobin S levels, which are tied to the sickling of red blood cells.

Are these gene therapies available at Mount Sinai?

Yes, we’ll be doing the therapies starting in late February. We’ve got four patients approved already, and have a list of dozens of people who are being evaluated. You can make an appointment at the Mount Sinai Sickle Cell Disease Center.

To call Mount Sinai Sickle Cell Disease Center
212-241-3650

What goes into the process of receiving these therapies?

It’s a long road. It starts with a visit at a sickle cell disease center. If the physicians have not identified any big reasons why you should not be a candidate, you’ll be referred to a gene therapy team—these doctors also work with bone marrow transplants. They will ensure any medical issues before and after the therapy are accounted for.

Administrative and finance teams will work with you to ensure these therapies are covered. These are expensive products—about $2 million or so—and each gene therapy is an individual negotiation and contract between the insurance company and drug company.

If everything is approved, you’ll make an appointment to come into the hospital for a procedure called apheresis. It’s almost like dialysis, where you’re hooked up to a machine. Your blood is pulled into the machine where stem cells are extracted over a period of about six hours. The stem cells are sent off to a manufacturing facility where the drug company does the gene therapy. This could take up to six months.

When the product is ready, you’ll check into the hospital again. You’ll be given chemotherapy to kill off all the stem cells in your body that make blood. Once all the stem cells are gone, a bag containing the gene therapy gets transfused into you, and the modified cells find their way back into the bones and start making blood that doesn’t have sickle cell disease.

Similar to a bone marrow transplant, you’ll be in the hospital for four to six weeks, because you have no immune system following the transfusion, and the product takes about a month to get into your body. This would be the biggest danger period of the whole process. But after that, you leave the hospital pretty much cured of sickle cell disease, though you might have to come back for several checkups.

What are some risks associated with the gene therapies?

Like in bone marrow transplant, the involvement of chemotherapy does carry a small risk of death. And there is a small risk of secondary cancers from the chemotherapy. It is very likely a person opting for this therapy might not be able to have children afterward unless you preserve your eggs or sperm. After the therapy, you would have to be careful for a while because your immune system is still reconstituting itself, and a simple case of influenza can make you much sicker than it normally would.

Who might be ideal for this sort of therapy?

The sickest of patients would be too frail to undergo chemotherapy, and a patient with mild disease wouldn’t find the risk-benefit attractive. It would essentially be someone with severe disease who isn’t responding well to current available drugs, but is strong enough to undertake the risk of chemotherapy to not have sickle cell disease anymore.

In adult medicine, we have moved away from paternalism, so our approach is: if you have sickle cell disease, and you understand the procedure, risks, and alternatives, and you still want to opt for the gene therapy, we will support you and do our best to help you succeed. It’s a shared decision-making process with the patient to make sure they understand what they’re getting themselves into.

In children for whom this therapy is appropriate, it’s a different approach. It’s more a medicine-based approach, where you only reach for the extreme care when you’ve exhausted all other options and you can say with relative certainty that the child would otherwise be certain to experience bad outcomes. An example would be if a child had had a stroke after maximal treatment and continued to have another stroke, then a transplant or gene therapy could be considered.

There might be many who would not opt for this, given that there are many good treatments that could help manage the condition, as well as more drugs in development. But these gene therapies open up options for a tremendous number of people. They are a cure for sickle cell disease as much as a bone marrow transplant is considered a cure. We know from bone marrow transplant patients who have lived decades after the procedure that the benefit continues to be a durable effect for the rest of their life. While we can’t predict how patients will fare decades down the road, since the first patients for these gene therapies got them in 2014, we are hopeful they will see similar durable benefit as well.

Learn more about the Mount Sinai Center for Sickle Cell Disease

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