Featured | Mount Sinai Today

From Afar, a Diagnosis, and Then Help for Baby Noor

Updated on Jun 30, 2022 | Featured, Patient Stories

August 2, 2019: Gregory M. Levitin, MD, with baby Noor Nunez, and her mother, Rania Al-Mutairi; father, Joe Nunez; and brother Omar Nunez, 10 days after the July 23, 2019, surgery.

It first appeared as a small rash a few weeks after Noor Nunez was born in 2018 in Kuwait, where she lives with her three older siblings, her Saudi mother, Rania Al-Mutairi, and American father, Joe Nunez. The red mark on her skin, however, was not a rash, but a bright red hemangioma, a benign tumor caused by an abnormal cluster of small blood vessels on or under the surface of the skin. As it grew, it looked as though baby Noor had a small tomato in the middle of her face—located right between her eyes.

Doctors in Kuwait, however, didn’t seem to know how to treat it. They told her parents that it was superficial, and they prescribed topical creams, assuring them it would go away. When it kept growing in size and thickness—and people had started pointing and staring at Noor—her father, a contractor based in Kuwait with the U.S. Army, became determined to find treatment, even if it meant leaving the country.

When Noor was about 5 months old, and as the hemangioma continued to grow, Mr. Nunez started to research treatment options online. “I knew we had to do something to correct this, or it would affect her for the rest of her life,” he says. “I started contacting centers specializing in vascular birthmarks all over the world, but few doctors responded.” However, when he sent an email to Gregory M. Levitin, MD, Director of the Vascular Birthmark and Malformations Program at New York Eye and Ear Infirmary of Mount Sinai, Dr. Levitin replied immediately.

January 2019: Baby Noor, left, with the growing hemangioma. November 2019: Four months after surgery: the hemangioma will continue to shrink and fade.

After reviewing the photos that Mr. Nunez had sent, Dr. Levitin knew he could help Noor. In late July 2019, around the time of Noor’s first birthday, the Nunez family traveled to New York Eye and Ear for surgery. Dr. Levitin, who is also Senior Faculty in Ear, Nose and Throat (Otolaryngology)–Head and Neck Surgery at the Icahn School of Medicine at Mount Sinai, is a nationally recognized expert in the diagnosis and management of hemangiomas and vascular birthmarks.

Hemangiomas typically begin to appear one to three weeks after birth and often fade with time. However in Noor’s case, the hemangioma was so large and deep that it blocked almost half of her eye’s visual field and distorted the bridge of her nose. It was so deep that 90 percent of it was below the surface of the skin. Due to its location and size, it was one of the most challenging hemangioma cases Dr. Levitin says he has ever encountered.

“It was highly vascular, so there was concern about excessive bleeding, and it was in the middle of her face near her eyes, so we had to find the precise place to make an incision in order to debulk the tumor without leaving her disfigured,” recalls Dr. Levitin. “In the end, we placed the incision within the shadow line between her eyebrow and her eye—then, millimeter by millimeter, we carefully removed each feeding blood vessel in a three-hour surgery during which she lost no more than three teaspoons of blood.”

Due to the complexity of the case, the hemangioma could not be removed in its entirety without risking complications or skin grafts, but Dr. Levitin was still able to remove more than 80 percent of the tumor, leaving Noor’s eyes and eyebrows symmetrical, restoring her nose, and significantly improving her appearance. The family regularly shares updates with Dr. Levitin on the hemangioma as it continues to shrink and fade; however, Noor will likely return to New York Eye and Ear this year for two laser treatments to reduce the redness and improve the texture of the hemangioma. According to Dr. Levitin, “In two or three years—maybe less—she will appear almost normal.”

Dr. Levitin fully understands how the family was willing to do everything they could for Noor. “I became passionate about this specialty when one of my twin daughters was born with a disfiguring hemangioma,” he says. “As a head and neck surgeon, and as a parent, I knew I could give other patients the medical expertise and the attentive care they need during a difficult time. I feel like my patients are part of my extended family.”

Beyond the successful surgery, Mr. Nunez says his family was additionally impressed with the caring staff at New York Eye and Ear. “My wife was floored by the treatment Noor got,” says Mr. Nunez. “Watching how the nurses and staff treat patients and their families, it was beautiful to see,” he says.

Novel Cancer Immunotherapies Show Promise

Updated on Jun 30, 2022 | Cancer, Featured, Research

A PET-CT scan indicates one patient’s partial response to the in situ vaccination after six months. as shown in pre-vaccine, left, and six months post-vaccine.

Researchers at the Icahn School of Medicine at Mount Sinai are pioneering two novel approaches to cancer immunotherapy that are promising for patients with non-Hodgkin lymphoma and other solid tumors, which have been stubbornly resistant to therapies such as checkpoint blockade.

One new approach is an in situ vaccination that worked so well in patients with advanced-stage lymphoma that it is now undergoing trials for breast cancer, as well as head and neck cancers. The other therapy captures the synergy of checkpoint blockade and stem cell transplantation in the form of a highly promising treatment known as immunotransplant. Joshua Brody, MD, Director of the Lymphoma Immunotherapy Program and Assistant Professor of Medicine (Hematology and Medical Oncology) at The Tisch Cancer Institute at Mount Sinai, is the lead investigator for both therapies.

The In Situ Vaccination

This vaccination approach involves injecting immune stimulants directly into a single tumor site, which “teaches” the immune system to recognize and destroy cancer cells at that site and throughout the body. “We’re teaching dendritic cells—the generals of the immune system army—to specifically recognize tumor antigens, which then instruct the T cells, the immune system’s soldiers, to go forth and kill the cancer cells while sparing non-cancer cells,” says Dr. Brody.

As reported in the April 2019 issue of Nature Medicine, this therapy involves several steps that begin with injection of a small molecule that calls the dendritic cells to action, followed by low-dose radiation to kill the tumor cells. These dying cells, in turn, release antigens into the immune system that are recognized by the dendritic cells and presented to the T cells as part of the “coaching” process.

The results were encouraging among a cohort of 11 patients with non-Hodgkin lymphoma. In earlier tests with lab mice, the vaccine was able to cure about 40 percent of lymphoma tumors, Dr. Brody says. When combined with checkpoint blockade, the cure rate nearly doubled. Dr. Brody reports that when testing the therapy in patients, “We saw some who had profound regressions of their entire tumor burden. After treating one site, tumors throughout the body melted away.”

The next step in the development of the vaccine began last spring when Mount Sinai began recruiting patients for a clinical trial that combines the vaccine therapy with checkpoint blockade—a widely used treatment that effectively removes the brakes from T cells so they are free to attack cancer cells. This trial will target lymphomas, as well as breast cancer and head and neck cancers.

Immunotransplant Therapy

While PD-1 blockade has been effective for some lymphoma patients, its ability to help those with non-Hodgkin lymphoma has been more challenging. Even anti-PD-1/anti-CTLA4 dual checkpoint blockade has yielded limited efficacy, perhaps due to insufficient T cell activation.

Recently, Dr. Brody and his team found that combining immunotherapy and stem cell transplantation may be beneficial. In this first-of-its-kind approach, reported in Cancer Discovery, the researchers were able to increase the cancer-killing immune response tenfold when tested in the lab, making it effective against not just non-Hodgkin lymphoma but also melanoma and lung cancer.

“In the lab, immunotransplant either prolonged survival greatly compared to immunotherapy alone or actually cured a significant portion of mice with melanoma and lung cancer,” Dr. Brody says.

Immunotransplant works through the principle of homeostatic proliferation: when T cells are put into an empty organism or body, they become activated and begin to wildly multiply. In immunotransplant, T cells are withdrawn from the blood through apheresis, clearing the way for their reintroduction as infused immune cells. As they proliferate, these reinvigorated T cells build the immune system back up, become activated, and enable checkpoint blockade to achieve its full cancer-fighting potential.

The fact that checkpoint blockade has become the standard of care for treating melanoma, kidney cancer, lung cancer, and other diseases underscores the promise of immunotransplant. “We’ve shown we can increase the power of checkpoint blockade immunotherapy to prolong survival and induce cures in aggressive cancers, and that means not just lymphomas but solid tumor types,” says Dr. Brody.

Medical-Legal Group Expands, and Honors a Champion

Updated on Jun 30, 2022 | Community, Featured

From left: Barbara Berger Opotowsky; Dennis S. Charney, MD, Anne and Joel Ehrenkranz Dean, Icahn School of Medicine at Mount Sinai, and President for Academic Affairs, Mount Sinai Health System; Cyrus Vance Jr.; Beth Essig; and William Fogg, son of the late Blaine V. “Fin” Fogg.

The Mount Sinai Medical-Legal Partnership (MSMLP), a nonprofit organization that provides free legal assistance to the neediest patients, recently celebrated two pediatric initiatives and honored the late Mount Sinai Trustee Blaine V. “Fin” Fogg.

Cyrus Vance Jr., District Attorney of New York County, was keynote speaker of the event held in November at Mount Sinai’s Corporate Services Center. He applauded the success of an initiative at Mount Sinai St. Luke’s—funded by a $1.3 million grant from his office—that helps patients and their families navigate the special education system. Lawyers from MSMLP and The Legal Aid Society in New York City have aided about 200 students since the initiative began in 2018.

“The role of law enforcement in the twenty-first century is not merely to arrest and prosecute,” said Mr. Vance. “We can deliver greater public safety and healthier communities if we prevent young people from coming into contact with the justice system in the first place. This is why, through our Criminal Justice Investment Initiative, we have partnered with Mount Sinai, The Legal Aid Society, and other leading organizations to provide the services and support necessary to help disadvantaged children and families succeed. I applaud the Mount Sinai Medical-Legal Partnership’s commitment to assisting New York’s most vulnerable through its new education law and advocacy services.”

In addition, a new program based at The Mount Sinai Hospital was announced at the event. It is helping young patients and their families address legal issues with housing, immigration, and access to health care. MSMLP also serves patients across the Health System, including legal clinics at the Mount Sinai Adolescent Health Center and the Mount Sinai Center for Transgender Medicine and Surgery. “We look at the needs of patients in a holistic manner,” said Barbara Berger Opotowsky, President of MSMLP, “and we believe that demolishing legal barriers can help materially improve the health of our patients and the community we serve.”

Speakers at the event expressed gratitude to Mr. Fogg, a Mount Sinai Trustee for three decades and President of The Legal Aid Society until his death in July 2019. “Mr. Fogg’s commitment to service inspired the formation of the MSMLP,” said Beth Essig, Executive Vice President and General Counsel, Mount Sinai Health System. “I have no doubt that the legacy of that commitment will continue to inspire the lawyers and others who work with the MSMLP for many years to come.”

Gene Variant Is Strongly Linked to Heart Failure

Updated on Jun 30, 2022 | Featured, Research

Icahn School of Medicine at Mount Sinai authors of the study included, from left: Ron Do, PhD, Assistant Professor, Genetics and Genomic Sciences; Girish Nadkarni, MD, Assistant Professor of Medicine (Nephrology); and Kumardeep Chaudhary, PhD, Senior Postdoctoral Fellow, Genetics and Genomic Sciences. Dr. Nadkarni and Dr. Do are Co-Directors of the BioMe Phenomics Center.

A genetic variation that is prevalent in people of African or Hispanic/Latino ancestry was significantly associated with heart failure in a study by researchers at the Icahn School of Medicine at Mount Sinai and the Perelman School of Medicine at the University of Pennsylvania. The study, published in December 2019 in JAMA: The Journal of the American Medical Association, found underdiagnosis of affected patients and made a strong argument for wider genetic screening of the potentially deadly mutation, researchers say.

The team reported a significant association between the variation, TTR V142I, and a serious heart disorder, hereditary transthyretin amyloid cardiomyopathy (hATTR-CM). The TTR V142I gene variant, previously known as TTR V122I, causes the liver to produce misformed molecules of the transthyretin protein. The protein forms clusters, called amyloids, that can deposit in tissues throughout the body, including the nerves, kidneys, and joints. When amyloids lodge in the heart, they cause hATTR-CM, in which the walls of the heart become thicker and stiffer—in the worst case leading to heart failure.

“Using clinical data linked to the genetic data at the BioMe™ Biobank of Mount Sinai, we found that up to 4 percent of African-Americans and 1 percent of Hispanic/Latino Americans carried this mutation,” says a corresponding author of the study, Girish Nadkarni, MD, Assistant Professor of Medicine (Nephrology), and Co-Director of the BioMe Phenomics Center in The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine. “They had a higher risk of heart failure compared to people who didn’t have this mutation, but strikingly, very few of them had been appropriately diagnosed.”

Patient Wilbert Gibson with Sumeet S. Mitter, MD, left, and Donna M. Mancini, MD, Professor of Medicine (Cardiology), and Population Health Science and Policy.

The association of the TTR V142I variant with the clinical diagnosis of heart failure was evaluated in 9,694 individuals of African and Hispanic/Latino ancestry, using health records linked to genetic data from the BioMe Biobank and the Penn Medicine Biobank. Among carriers of the TTR V142I variant, the rate of diagnosis with hATTR-CM was assessed. The findings indicated both high rates of underdiagnosis and prolonged time to the appropriate diagnosis, says senior author Ron Do, PhD, Assistant Professor of Genetics and Genomic Sciences, and Co-Director of the BioMe Phenomics Center. Only 11 percent of individuals with the genetic variant and heart failure had been diagnosed with hATTR-CM, with an average time to appropriate diagnosis of three years.

“Our hope is if we can find individuals with amyloid cardiomyopathy early through genetic screening, we can start them on therapy before a heart transplant becomes the only clinical solution,” says Sumeet S. Mitter, MD, Assistant Professor of Medicine (Cardiology), and a leader of the multidisciplinary Clinical Amyloid Program at the Icahn School of Medicine. “Early diagnosis is even more important, given recent advances in treatment for hATTR-CM.” Treatment was limited to supportive care until May 2019, when the U.S. Food and Drug Administration approved the breakthrough drug tafamidis, made by Pfizer. However, timely diagnosis is critical, since the therapy stops amyloids from depositing in tissues, but does not reverse the course of the disorder.

The experience of a Mount Sinai patient, Wilbert Gibson, is emblematic. Mr. Gibson, 63, began having worrisome symptoms in early 2019. “My weight shot up from about 170 to nearly 200 pounds.” he says. “My legs were swelling; I was having shortness of breath.” Mr. Gibson was diagnosed with cardiac amyloidosis and found to have the TTR V142I mutation. His heart failure was so advanced that he required a transplant. He received a new heart in June 2019 and says he feels restored and grateful. However, he echoes clinicians and researchers in calling for more awareness of the gene variant, its prevalence in some populations, and its association with heart failure. “People should know about this,” Mr. Gibson says.

Read stories about research at Mount Sinai

Bringing Art Experiences to Oncology Patients

Updated on Jun 30, 2022 | Featured, Patient Stories

Robin Glazer, Director of The Creative Center at University Settlement, back row, center, helped celebrate the artists, who included, front row, from left: Regina Scudellari-Ponemon, Barbara Polinsky, Cibele Vieira, and Desi Minchillo; and back row, from left: Marika Hahn, Sascha Mallon, Helen Dennis, and Nikki Schiro.

During an appreciation luncheon held on Wednesday, November 13, Mount Sinai Health System leadership, along with faculty and staff, celebrated nine talented artists who work at Mount Sinai through The Creative Center at University Settlement’s Hospital Artist-in-Residence Program providing art experiences to oncology patients and their caregivers as they receive treatment.

The event included vivid and inspiring stories about care and compassion, and the powerful impact art has on enhancing the patient and staff experience. The lunch, held in the Annenberg Center for Innovation and Discovery, was hosted by Sinai Spotlight, a Health System employee recognition and appreciation program sponsored by the Division of Talent Development & Learning, in partnership with the Mount Sinai Health System Office of Development.

The artists work in various locations throughout the Health System—both bedside and at outpatient units—helping patients, and even their visitors, to momentarily turn a traumatic, frightening, or overwhelming experience into one of joy, life, and positivity through art.

Artist Sascha Mallon, who has participated in the program for nine years, meets with inpatients at the bone marrow transplantation center and outpatients at The Mount Sinai Hospital. Ms. Mallon says she first determines their eagerness to participate, and then, their preferences.

“They make macramé and jewelry. They sculpt and paint. I find out what is exciting for them,” says Ms. Mallon. “I don’t see the illness—the doctors and nurses do. I see the healthy part of the patient, the strong part, the happy part.”

Enhancing Early Brain Development in Children

Updated on Jun 30, 2022 | Featured, Pediatrics

Kenneth L. Davis, MD, left, with Jackie and Mike Bezos of the Bezos Family Foundation.

A partnership between Mount Sinai Kravis Children’s Hospital and the Bezos Family Foundation aims to transform pediatric health care through an innovative program that provides science-based tips, tools, and activities to enhance a child’s early brain development during the critical years from birth to age five. The effort, a collaboration with the Mount Sinai Parenting Center, is based on a core premise—that everyday interactions between a child and a parent, caregiver, or health care providers can be turned into an opportunity to build cognition and language skills, and help form strong interpersonal relationships. It is the cornerstone of an early learning program, known as Vroom, that was developed by the Bezos Family Foundation.

“In a child’s early years, the brain makes more than 1 million neural connections on average each second, which means every moment you spend with a child is an opportunity for brain-building activities,” says Carrie Quinn, MD, Assistant Clinical Professor of Pediatrics, Icahn School of Medicine at Mount Sinai, and Executive Director of the Mount Sinai Parenting Center. “The health care environment offers a unique opportunity to reach parents during these formative years.”

The Parenting Center has saturated hallways, elevators, and exam rooms—in the prenatal, labor and delivery, postpartum, and neonatal intensive care units; and in the pediatric emergency department and the pediatric clinic—with easy-to-read signs that serve as canvases to convey more than 500 messages about parenting. “This prompts everyone to think about how they can make each interaction more meaningful, whether you are a parent in a waiting room, a pediatrician doing a consultation, or a security guard who is the first to greet families and typically the last person to say goodbye,” says Aliza Pressman, PhD, the Parenting Center’s Co-Founding Director and Director of Clinical Programming, and Assistant Clinical Professor of Pediatrics at the Icahn School of Medicine at Mount Sinai.

“From using a sing-song voice called ‘Parentese’ while changing a diaper, to modeling backand- forth conversations with toddlers, each moment becomes an opportunity to promote healthy brain development,” adds Blair Hammond, MD, Co-Founding Director and Director of Medical Education for the Parenting Center, and Assistant Professor of Pediatrics at the Icahn School of Medicine at Mount Sinai.

“The science we have funded for more than a decade clearly shows that children’s early development is dependent on parents and other caring adults in their lives,” says Mike Bezos, Vice President and Co-Founder of the Bezos Family Foundation. “Health care professionals like those at the Mount Sinai Parenting Center are natural partners.”

Adds Kenneth L. Davis, MD, President and Chief Executive Officer of the Mount Sinai Health System, “Mount Sinai has long recognized that the health of any child goes well beyond the immediate concerns that families present with and that we must always be holistic in our approach to facilitate their development and put them on a path of lifelong well-being.”

The initiative also offers a training component that includes video, e-learning, and in-person classroom support for all staff in the designated units to ensure they are well-equipped to apply the fundamentals of brain development science in their interactions with children and parents. More than 1,000 faculty and staff will be trained in clinical disciplines, such as Nursing and Social Work, an effort that also includes staff in nonclinical areas, such as Housekeeping, Patient Transport, and Security. The potential to influence thousands of children and their families is great. Each year, there are more than 50,000 primary care and emergency room visits, and more than 8,000 babies born at Kravis Children’s Hospital.

This initiative is the latest innovative effort by the Parenting Center. In 2018, it launched a pilot program with eight hospitals, including The Mount Sinai Hospital, to offer a free online curriculum for residents that integrates the science of early childhood development with pediatric training, teaching residents how to better inform, encourage, and interact with parents during well-child visits. Developed in partnership with Mind in the Making, a program of the Bezos Family Foundation, 76 hospitals around the nation have offered the curriculum to date, and an estimated 1,900 residents have enrolled.

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