Category: Congenital disorders

View Larger Image Vladimir Lupashin, Ph.D., at his desk surrounded by his team of graduate assistants. Standing from left to right: Amrita Khakurel, Farhana Taher Sumya and Zinia Dsouza By Linda Satter July 25, 2023 | The National Institutes of Health recently awarded an additional $1.6 million to researchers at the University of Arkansas for Medical Sciences (UAMS) to continue a 14-year effort aimed at gaining a deeper understanding of the fundamental principles governing intracellular membrane traffic — a crucial process occurring in every human cell. Intracellular traffic plays a pivotal role in the transportation of proteins and other macromolecules to diverse cellular locations, both within and outside the cell. It serves as a vital mechanism for maintaining cellular homeostasis and significantly influences the interactions between cells and their surrounding environment. Vladimir Lupashin, Ph.D., a professor in the UAMS College of Medicine Department of Physiology and Cell Biology and the primary investigator, said comprehension of these mechanisms serves as a crucial foundation for developing effective treatments for a wide range of diseases, including cystic fibrosis, Parkinson’s disease and Alzheimer’s disease. Moreover, it plays a significant role in understanding and addressing other conditions such as Amyotrophic Lateral Sclerosis (ALS), and various forms of cancer and diabetes. By unraveling the intricate workings of intracellular membrane traffic, researchers aim to uncover novel therapeutic targets and strategies to combat these debilitating illnesses. Lupashin’s laboratory has already made several scientific contributions that have resulted in the publishing of more than 80 original papers in high-profile scientific journals. Lupashin and his team outside his lab. “We have pioneered the functional analysis of the Conserved Oligomeric Golgi (COG), an evolutionarily conserved protein complex critical for membrane trafficking and protein modifications in the Golgi apparatus,” he said, describing the Golgi as “the central hub for protein modification and sorting within cells. It plays a pivotal role in a process known as glycosylation, where highly complex sugars or glycans are added to proteins.” Mutations affecting the COG complex can disrupt the normal functioning of the Golgi apparatus, leading to a group of rare diseases known as Congenital Disorders of Glycosylation (CDG). CDG encompasses a diverse spectrum of disorders, each characterized by specific symptoms and complications, including developmental delays, neurological impairments, organ dysfunction, and various other systemic abnormalities. By understanding the impact of COG complex mutations on Golgi function and glycosylation, researchers aim to uncover insights into the underlying mechanisms of CDG and develop potential therapeutic interventions to alleviate its associated symptoms and improve patients’ quality of life. Additionally, Lupashin highlighted that the COG complex, a critical component of intracellular membrane traffic, can be exploited by various pathogens such as viruses, pathogenic bacteria, and toxins. However, the precise mechanisms by which these diverse groups of pathogens evolved to depend on COG function remain unclear. “Understanding the molecular basis of COG-pathogen interactions will allow us to develop the strategies to protect cells and organisms from pathogen-borne diseases,” Lupashin said. The R01 renewal totals $1,638,172 and enables the research to continue through March 31, 2027. The original five-year grant has been continuously renewed in four-year increments. In total, Lupashin has received $6,270,227 from the NIH for this research. UAMS is the state’s only health sciences university, with colleges of Medicine, Nursing, Pharmacy, Health Professions and Public Health; a graduate school; a hospital; a main campus in Little Rock; a Northwest Arkansas regional campus in Fayetteville; a statewide network of regional campuses; and seven institutes: the Winthrop P. Rockefeller Cancer Institute, Jackson T. Stephens Spine & Neurosciences Institute, Harvey & Bernice Jones Eye Institute, Psychiatric Research Institute, Donald W. Reynolds Institute on Aging, Translational Research Institute and Institute for Digital Health & Innovation. UAMS includes UAMS Health, a statewide health system that encompasses all of UAMS’ clinical enterprise. UAMS is the only adult Level 1 trauma center in the state. UAMS has 3,240 students, 913 medical residents and fellows, and five dental residents. It is the state’s largest public employer with more than 11,000 employees, including 1,200 physicians who provide care to patients at UAMS, its regional campuses, Arkansas Children’s, the VA Medical Center and Baptist Health. Visit www.uams.edu or uamshealth.com. Find us on Facebook, Twitter, YouTube or Instagram. ###

Key Takeaways The FDA has approved the first RSV vaccine for infants, which should prevent thousands of hospitalizations each year. The vaccine, called Beyfortus, is manufactured by Sanofi and AstraZeneca. Beyfortus is intended to be administered within the first five months of life, but can also be given to children up to 5 years old. A maternal RSV vaccine is also in development by Pfizer. The Food and Drug Administration (FDA) has approved the first vaccine to prevent respiratory syncytial virus (RSV) in infants. The monoclonal antibody vaccine, made by Sanofi and AstraZeneca, has shown 76.8% efficacy at reducing hospitalizations from RSV within the first five months of life. This could prevent hundreds of deaths in children age 5 and under, as well as thousands of hospital stays. Infants will receive one dose of the vaccine, called Beyfortus, either at birth or before their first RSV season. “With the demonstrated strong safety and efficacy results, I would recommend this vaccine for all infants and children since RSV disease is widespread, and especially harmful to infants and children under 5,” Yvonne Maldonado, MD, division chief of pediatric infectious diseases at Stanford Medicine Children’s Health, told Verywell Health via email. Why an Infant RSV Vaccine Matters Currently, RSV is a leading cause of infant hospitalizations in the U.S. About 100–300 babies and children under the age of five die each year from severe complications of RSV that can lead to pneumonia and bronchiolitis. “Most babies hospitalized with RSV are born at term and healthy, which is why interventions specifically designed to protect all infants are likely to result in the greatest impact,” Thomas Triomphe, executive vice president of vaccines at Sanofi, said in a press release. “We are encouraged by the Advisory Committee’s positive vote based on the compelling clinical development program supporting nirsevimab and its breakthrough potential to reduce the magnitude of annual RSV burden.” The Sanofi and AstraZeneca vaccine is the first vaccine to protect infants from severe complications from RSV, and can change the landscape in the battle against rising hospitalizations due to severe respiratory illness. What Is RSV? RSV is a contagious virus that causes respiratory illness and fluid-build up in the lungs. While most infants are able to battle RSV on their own without much intervention, certain health conditions can put babies at a higher risk for developing severe and sometimes deadly respiratory symptoms. Infants and children at high risk of hospitalization from RSV include: Premature infants Children with neuromuscular disorders that make it difficult to clear secretions and mucus from the lungs. Infants and children with weakened immune systems Children under two with chronic lung and congenital heart disease. “When babies breathe, they breathe through lung tubes that are many times smaller than those of adults,” Iona Munjal, MD, vaccine research and development maternal RSV global clinical lead at Pfizer, told Verywell via email. “Fluid build-up can almost completely occlude their breathing airways and fill up their lungs with concerning levels of inflammation and fluid.” How Effective Is the Infant Vaccine? Results from the phase 3 MELODY study found that the Beyfortus vaccine is 76.8% effective at preventing hospitalizations from RSV in the first five months of life, and 78.6% effective at reducing severe RSV associated lower respiratory infections within the same timeframe. Monoclonal antibody vaccines are different from other vaccines. They rely on RSV antibodies grown in a lab, which are injected directly into the body. This allows for a faster rate of protection. By comparison, most other vaccines introduce an inactivated form of the virus into the body, prompting recipients to develop their own antibodies. “This effective respiratory syncytial virus vaccine will be an important tool to prevent serious illness, hospitalizations, and deaths among infants, children as well as adults,” Maldonado said. Risks and Side Effects As with every vaccine, there are risks and possible side effects that can affect an infant after the administration of the Beyfortus vaccine. Side effects localized to the injection site may include redness, pain, and swelling. Systemic side effects up to seven days after injection may include: Fever Fatigue Headache Nausea Muscle and joint pain Vomiting and diarrhea While it is very rare, the most significant risks associated with Beyfortus include the possibility of developing gastroenteritis, bronchitis, or pneumonia. When Will It Be Available to the Public? While the rollout timeline for the Sanofi and AstraZeneca Beyfortus vaccine will be determined by the FDA, the company anticipates that this vaccine will be available in the fall, just in time for the 2023–2024 RSV season. A Maternal Vaccine Is in the Works, Too The FDA is also expected to approve Pfizer’s maternal RSV vaccine. The vaccine will be administered to people who are pregnant during their third trimester in order to protect newborns. The RSV prefusion F protein–based (RSVpreF) vaccine, which has shown 81% efficiency at reducing severe cases of lower respiratory tract illness within 90 days of birth, could prevent hundreds of deaths in children age 5 and under, as well as thousands of hospital stays. “We thought long and hard about how to best protect newborns in a study with our vaccine candidate,” Pfizer’s Munjal said. “Newborns, of course, often cannot mount adequate immune defenses against infections, and direct immunization, or a vaccine given to the infant, is not always an option. But because protective antibodies are naturally passed from the mother to the newborn as early as the second trimester of pregnancy, we felt strongly that maternal immunization would be the best approach to offer the best level of protection.” The vaccine is intended to be given to a mother between weeks 24–36 of pregnancy. According to Keanna Ghazvini, a spokesperson for Pfizer, the RSVpreF vaccine for people who are pregnant will have major implications for the future of pediatric care and the overall burden associated with RSV. “Up until this point, doctors still only have one option: using a ventilator for these severe cases,” Ghazvini told Verywell via email. “But what is important here is

Bronny James, eldest son of LeBron James, suffered a cardiac arrest during basketball practice this week. He is 18 years old, and headed to USC as the top freshman recruit to the NCAA this season. A family spokesperson shared that Bronny is now out of the intensive care unit and in stable condition. Further details as to what may have caused the sudden cardiac arrest are not currently available. While regular exercise is known to be one of the best means of protecting the heart in the short and long term, sudden cardiac events in healthy young athletes remain concerning, especially in recent years when several high-profile athletes have suffered acute events such as Bronny’s cardiac arrest. Some athletes have an undiagnosed pre-existing cardiac condition, but these are extraordinarily rare. A 2017 report published in the New England Journal of Medicine estimated that the incidence of cardiac arrest during competitive sports was 0.76 cases per 100,000 athlete years, with a 43.8% survival after such events. Pre-screening athletes for determining risk of sudden cardiac events is complex, and most medical associations do not recommend pre-screening electrocardiograms or echocardiograms in athletes with no known cardiac risk factors. Rare disorders such as a congenital heart condition, an abnormally enlarged heart, and family history of cardiac disease in young family members can be addressed on an individual basis, yet most athletes who suffer sudden cardiac have no history of such disorders in their own or their family’s health history. Athlete Runs on a Treadmill with Electrodes Attached to Her Body, Physician Uses Tablet Computer and … [+] Controls EKG Data Showing on Laboratory Monitors. getty Earlier this year, Buffalo Bills player Damar Hamlin suffered a cardiac arrest during a “Monday Night Football” game, and was rapidly resuscitated on the field and discharged from the hospital just a few weeks later, in good condition. Hamlin’s cardiac event was due to blunt trauma to the chest, leading to a rare event called commotio cordis, whereby the heart is struck at just the right (or wrong) time in just the right (or wrong) location in the chest to trigger a lethal irregular heart rhythm, or arrhythmia. Because of the immediate on-field response to Hamlin’s collapse, first responders were able to restart his heart by using a combination of CPR and electrical shock defibrillators. Buffalo Bills players look on after teammate Damar Hamlin #3 collapsed on the field after making a … [+] tackle against the Cincinnati Bengals during the first quarter at Paycor Stadium on January 02, 2023 in Cincinnati, Ohio. (Photo by Dylan Buell/Getty Images) Getty Images Just last year, USC Freshman Vince Iwuchukwu suffered a cardiac arrest during summer practice, and was resuscitated by USC medical staff on site. He received immediate CPR and shock defibrillation, and returned to the basketball court six months later. Automated external defibrillators, or AED’s, can enable the responder to administer life-saving electrical shocks to restart a heart that has sustained an arrest. These devices are located in schools, airports, shopping malls, and many grocery stores. AED box. Automated external defibrillator. getty With wearable health trackers now the norm, some studies have shown that these may be key in early detection of cardiac issues, including abnormal rhythms and even a heart attack. However, we are likely years away from having this technology be a fool-proof way to truly detect chronic or acute issues. That said, the potential for better and more accurate monitoring with wearables and smart watches is likely in our future. Man measuring pulse getty According to early reports, Bronny is thankfully recovering from his sudden cardiac arrest, thanks to swift medical response by the USC medical staff on site. In addition, the fact that he is a young, healthy individual bodes very well for his recovery.

Bronny James, son of NBA superstar LeBron James, is in the hospital after suffering a sudden cardiac arrest.It happened at a practice at the University of Southern California, where James is an incoming freshman.He was treated by USC’s medical staff right away and is now out of intensive care and in stable condition.There are no details as to exactly what happened, but according to the Mayo Clinic, there are several conditions that can lead to cardiac arrest in young athletes.The most common is a genetic condition called hypertrophic cardiomyopathy, which is a thickening of the heart muscle.A blunt chest injury can lead to commotio cordis, which is what caused Buffalo Bills safety Damar Hamlin’s cardiac event.Congenital heart defects and heart rhythm disorders can also lead to cardiac arrest.Quick action may have saved James’ life, according to a sports cardiologist practicing at the University of Maryland Medical Center.”If everybody’s prepared, they know CPR, they have an AED, we can deal with just about all cardiac problems at that time. And getting to the patient, the athlete or whoever as quick as possible (and) initiating these action plans is critical. It’s really lifesaving to get to these people as quickly as possible,” said Dr. Scott Jerome, director of sports cardiology at the University of Maryland School of Medicine. BALTIMORE — Bronny James, son of NBA superstar LeBron James, is in the hospital after suffering a sudden cardiac arrest. Advertisement It happened at a practice at the University of Southern California, where James is an incoming freshman. He was treated by USC’s medical staff right away and is now out of intensive care and in stable condition. There are no details as to exactly what happened, but according to the Mayo Clinic, there are several conditions that can lead to cardiac arrest in young athletes. The most common is a genetic condition called hypertrophic cardiomyopathy, which is a thickening of the heart muscle. A blunt chest injury can lead to commotio cordis, which is what caused Buffalo Bills safety Damar Hamlin’s cardiac event. Congenital heart defects and heart rhythm disorders can also lead to cardiac arrest. Quick action may have saved James’ life, according to a sports cardiologist practicing at the University of Maryland Medical Center. “If everybody’s prepared, they know CPR, they have an AED, we can deal with just about all cardiac problems at that time. And getting to the patient, the athlete or whoever as quick as possible (and) initiating these action plans is critical. It’s really lifesaving to get to these people as quickly as possible,” said Dr. Scott Jerome, director of sports cardiology at the University of Maryland School of Medicine.

Suffering a sudden cardiac arrest can be fatal, especially without receiving immediate medical treatment, experts say. Bronny James, the 18-year-old son of NBA star LeBron James, was in stable condition Tuesday after becoming the latest elite athlete to experience the medical emergency, this time during a basketball practice at the University of Southern California. Still, cardiac arrests in young athletes are relatively rare. One of the most high-profile cases came in January, when the Buffalo Bills’ Damar Hamlin suddenly collapsed on the football field. The NFL player returned to practice five months after the near-death experience. Cardiac arrest can lead to injuries in the brain and internal organs, as well as post-traumatic stress disorder. It is different from a heart attack. Here’s what to know: What to know

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From left to right, UD nursing students Abigail Chiappone, Lauren Maransky and Paige Beam visit Giants Causeway, a World Heritage Site in Northern Ireland. Article by Amy Cherry Photos by courtesy of Lauren Maransky, Sadie Davis and Emma Kingkade July 25, 2023 Full-semester program seeks to expand study abroad partnership with University of Limerick in Ireland When Sadie Davis, a southern Delaware native, boarded a plane solo bound for Ireland for a semester-long study abroad, she was nervous. “I knew I wanted to go the second the School of Nursing started talking about the opportunity, but as the day got closer and closer, I was scared,” Davis said. “I even cried in the TSA line as I left my parents.” She had traveled to Europe before but had never been away from home for so long. But from the moment the University of Delaware nursing major stepped on the University of Limerick (UL) campus, she felt an instant calm. “It just clicked. I’m here for five months, and I’m going to make this place home,” Davis said. “As opportunities arose, I tried new things and took chances. I tried to see everything, accept the culture, and I knew I was creating lifelong memories.” The Health Sciences building on the right-hand side as seen from the Living Bridge on the University of Limerick’s campus. UD nursing students spent most of their time in Limerick, but also traveled to other spots across the country. Davis was one of a dozen School of Nursing (SON) sophomores who had the opportunity to embark on UD’s latest study abroad offering — a full semester-long experience in Ireland. During the inaugural immersive experience that coincides with UD’s study abroad centennial, nursing students embedded at UL enrolled in unique courses, learned alongside students from all over the world, conducted research and traveled across Europe. “Healthcare is a global initiative that extends far beyond what happens in our neck of the woods,” said Elizabeth Speakman, senior associate dean of SON. “Because of people’s ability to migrate from country to country, it’s more important than ever for the nurse to understand healthcare on the global stage. The beauty of this program was its ability for students to gather from all corners of the world and dialogue about global healthcare delivery and care across the world.” UD nursing students Emma Kingkade (left) and Clare Bothwell at the “Mini” Cliffs on the road to the famous Cliffs of Moher. UL students hail from around the world, including Saudi Arabia, India, China and Africa. “Historically, in nursing, students are only in classes with other nursing students,” Speakman said. “So, having conversations and discussions about world health in diverse classrooms is a huge opportunity for our students.” Emma Kingkade chose UD because of this exact opportunity. “Many nursing programs don’t have semester-long study abroad programs because of how rigorous the curriculum is,” Kingkade said. “By spending more time in another country, you can become more immersed in the culture, and the opportunity to make friends outside UD was really appealing.” Kingkade had five roommates, including her best friend from Delaware. The others hailed from Texas, Utah and France. “It was so cool to live with people from a different country — that’s not something I ever thought I’d do,” Kingkade said. Some arrived surprised to learn there was no meal plan at UL. They traded microwavable macaroni and cheese for trips to the grocery store and put their cooking skills to the test. “The foods we made in the kitchen were so different,” Kingkade said. “Cooking for myself was quite a learning experience.” Davis roomed with five Americans and a guy from Ireland. “Poor him,” she said with a laugh. “But he learned a lot about American culture, and he taught us all about Irish culture, so it was really fun.” UD nursing student Sadie Davis (left) and University of North Carolina student Monica Cardoso on top of Blarney Castle, home of the Blarney Stone in Cork. While at UL, students took courses like research in healthcare, intellectual disabilities (ID) across the lifespan, and one course that focuses on care for older people. Kingkade, who has a cousin with Down syndrome, learned so much from her intellectual disabilities course. “It was really interesting to see that caring for people with intellectual disabilities is a subset of care in Ireland,” Kingkade said. “Nurses specializing in this area are more comfortable treating people with intellectual disabilities. It would benefit all nurses in America to have training in congenital disorders because this kind of knowledge helps everyone.” Davis also called that course “eye-opening.” “We learned about the differences in how they deal with people with ID and how America deals with it, and to me, it was clear that Ireland has far better systems in place, and people with intellectual disabilities seem to have a better quality of life there,” Davis said. Claire O’Donnell, course director of international studies at UL, affectionately calls herself the students’ “Irish mummy.” She, too, saw the profound impact this course had on students. “The students said this was something they were never exposed to or would see in the states,” O’Donnell said. “This module shifted their thinking about intellectual disabilities and mental health and gave them a bit more specialization to add to their general nursing background.” Rising junior Lauren Maransky also chose UD because of this study-abroad opportunity. She loved the labs. “We learned about touch therapy for dementia patients, and while we have holistic care in America, it feels like Ireland cares more about getting to know a person,” Maransky said. As an honors student, Maransky had the rare opportunity to engage in research in Ireland. A paper she co-wrote is awaiting publication. “I studied progressive supranuclear palsy (PSP), a neurological condition often mistaken for Parkinson’s disease,” Maransky said. “I learned more than I ever thought about the disease from the patient care mindset.” From left to right, UD nursing students Abigail Chiappone and Karalyn Viszoki pose

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Industry: Healthcare Maryland residents can access a wide range of medical services under one roof in Reisterstown, including cardiology, endocrinology, gastroenterology, internal medicine, ophthalmology, optometry, and podiatry, ensuring timely care Reisterstown, MB (PRUnderground) August 15th, 2023 Clinical Associates, a leading provider of integrated medical care for over 50 years in Maryland, offers comprehensive and specialized care across multiple disciplines in its Reisterstown primary care location. The facility provides expert medical care in cardiology, endocrinology, gastroenterology, internal medicine, ophthalmology, optometry, and podiatry, ensuring that Maryland residents can access a range of medical services in a single location. Our goal is to provide our patients the highest quality of care. The services in the Reisterstown location enable us to offer a comprehensive range of medical specialties, making it more convenient for our patients to receive the care they need. Cardiology in Reisterstown Clinical Associates’ Cardiology department offers comprehensive diagnosis and treatment for heart conditions and disorders, including cardiac arrest, congenital heart defects, coronary artery disease, and heart arrhythmias. With a focus on preventive care and effective management of existing conditions, the medical team of cardiologists works closely with patients to promote heart-healthy lifestyles and provide personalized treatment plans tailored to their specific needs. Endocrinology in Reisterstown The Endocrinology department at Clinical Associates specializes in diagnosing and treating hormone-related conditions and disorders, such as Addison’s disease, adrenal gland disorders, diabetes, and thyroid disorders. The endocrinology team works closely with patients to develop personalized treatment plans that help them manage their conditions. Gastroenterology in Reisterstown The gastroenterology speciality group at Reisterstown provides screening, diagnosis, and advanced treatment options for gastrointestinal diseases and disorders. The gastroenterologists at Clinical Associates treat patients with celiac disease, Crohn’s disease, colitis, heartburn, peptic ulcer disease, and irritable bowel syndrome. Internal Medicine in Reisterstown Internal Medicine at Clinical Associates Reisterstown serves as a team of primary care providers for many patients. These internists specialize in treating common health concerns and chronic health problems like arthritis, asthma, diabetes, heart disease, high cholesterol, hypertension, and osteoporosis. In addition, the internists work in conjunction with on-site laboratory and radiology services to provide comprehensive care. Podiatry in Reisterstown Finally, the podiatry department provides medical diagnosis, treatments, and surgical options for foot and ankle problems. The podiatrists at Clinical Associates Reisterstown treat a wide range of issues, including Achilles tendon disorders, arthritic foot and ankle care, athlete’s foot, bunions, calluses, corns, diabetic foot care, flat feet, fungus treatment, geriatric foot care, hammertoes, heel spurs, ingrown toenails, and plantar fasciitis. The medical services at Clinical Associates Reisterstown provide Maryland residents with comprehensive and specialized healthcare in one convenient location. By supporting a wide range of medical services under one roof, Clinical Associates aims to ensure timely care and improved patient experiences, ultimately promoting the Reisterstown community’s well-being. For more information on services and physicians at the Clinical Associates Reisterstown location, please visit https://clinicalassociatesmd.com/locations/reisterstown/ To schedule an appointment at Clinical Associates at Reisterstown, call 410-526-7800 or visit the office at 750 Main Street, Reisterstown, MD 21136. About Clinical Associates Clinical Associates has been a premier provider of integrated medical care in Maryland for over 50 years, offering a wide range of specialties and comprehensive healthcare services. With a focus on patient-centered care, our team of over 50 physicians, specialists, and credentialed healthcare providers works together to deliver personalized treatment plans and coordinate care across multiple disciplines. Clinical Associates is dedicated to making healthcare more accessible and convenient for patients.

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