We support Rare Disease Day!

“My wish for all rare disease families this rare disease day, reflect with gratitude, and move forward with hope.” ~ Kristin Anthony, President, PTEN Foundation

HUNTSVILLE, Ala. (PRWEB)
February 28, 2020

The PTEN Hamartoma Tumor Syndrome Foundation advocates for all patients affected by PTEN Hamartoma Tumor Syndrome (PHTS). PHTS is a Rare Disease defined as less than 1 in 200,000 though our experience tells us that our genetic disorder is underdiagnosed. The PTEN Foundation is collecting data in an IRB governed patient-powered registry and advocates for more than 1500 patients Worldwide. PHTS results when a patient is born with a mutation in the PTEN gene. Patients are at high risk of developing breast, thyroid, kidney, colon, endometrial cancers, and melanoma. These are common cancers, but a rare genetic syndrome that can lead to these cancers. Some patients are also affected by developmental delay or autism and other neurocognition issues. What drives our passion? Our Why? “Love for our patients, a desire to bring our patient’s experience to the forefront for research acceleration to treatments for our disease,” Kristin Anthony, President of the PTEN Foundation

Kristin never thought she’d enter the World of Rare Diseases and shared what having a rare disease means to her. Being diagnosed with PHTS means “hereditary cancer risks, autism, epilepsy, vascular anomalies, tumors, polyposis, advocacy. Trips to Washington, Boston, Cleveland, England, numerous calls with scared patients, silent tears, small victories, late nights, exhaustion, huge smiles from Moms who are now some of my closest friends, hugs with kids whose smiles light up my World.”

Kristin was diagnosed with thyroid cancer in 2009, She shared that her Mom had already experienced her first primary breast cancer, and she was experiencing numerous breast health issues. “I felt a tug; something was amiss. I asked my care team if there was any correlation with my breast health issues and thyroid cancer and was told: NO, don’t play Dr. Google, we will remove your thyroid, and you will be fine. I did not rest on that statement. Some will say I am stubborn and strong-willed; they are correct, I am. I want to credit those characteristics to my persistence in trying to understand my health issues. Still, I believe it was something more significant that kept me on a path to diagnosis.”

Kristin researched and found a disease that did tie together breast cancer and thyroid cancer, Cowden Syndrome, a presentation of PHTS. “I reviewed the major and minor criteria for the disorder, and I fit many of these. Again, I approached my care team to ask if it might be possible that I have this syndrome and was told, No. Many months later, I met a genetic counselor who shared that she thought I was onto something. She and my oncologist invited me in, drew blood, took head measurements, and sent these off to the Cleveland Clinic.” Several months later, in 2011, Kristin received confirmation that she was right. She was positive for a PTEN gene mutation.

Fast forward to today, Kristin is a three-time cancer survivor, a three-time previvor, and she has overcome 15 surgical procedures. “The result didn’t break me; it strengthened my resolve to work harder for our PHTS (PTEN) families.” The PTEN Foundation team believes treatments are in reach. “We have amazing researchers across the US that are tirelessly working at breakneck speed to see this happen,” Andrea Beilstein, PTEN Foundation Program Director. “We are working to develop tools open to all PHTS (PTEN) researchers, which include our patient’s most valuable asset and legacy for their kids, data. No one understands our patient’s journeys better than them; they are the ones that can best articulate what living with PHTS means.” Patient’s fears and hurts include cancer risk, their autistic child’s future, the pain they suffer from vascular anomalies, digestive issues resulting from colonic polyposis. PTEN patients experience depression, anxiety, insomnia, epilepsy, seizures, heart issues, dementia, symptoms similar to Parkinson’s, and more. The PTEN Foundation believes its community’s stories matter and developed an IRB governed patient-powered registry longitudinal database is to assist in communicating the patient journey in a way that complements current clinical data. Kristin Anthony shared that the foundation “will soon launch a collaborative biobank pilot with biomaterials collected from patients representing all phenotypical aspects of PHTS.” Both resources are open to all researchers who apply. The foundation is also developing a PHTS quality of life disease burden study, giving patients a collective voice.

Ms. Anthony shared, “Rare Disease Day, now Rare Disease Week, is a growing movement across the World, giving the rare global community a platform for patients to share their experiences collectively. Our community is grateful for this opportunity. My wish for all rare disease families this rare disease day, reflect with gratitude, and move forward with hope.”

If you would like to connect with the PTEN Foundation feel free to reach out to us directly, kristin@ptenfoundation.org, visit our website, https://www.ptenfoundation.org, and join us for our patient and scientific symposium May 29, 2020, at Boston Children’s Hospital. Sign up here:

Symposium Sign Up

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Tommy John Baseball Throwing Sleeve

There are helmets, elbow guards, groin protectors and other baseball protective gear, but nothing for the throwing arm, the one thing that will keep you in the game.

ATLANTA (PRWEB)
February 28, 2020

Jason Colleran, Founder of The Perfect Arm company, will be launching his first campaign this spring for his award winning throwing support sleeve. The Perfect Arm product made its first appearance last January at the 2020 American Baseball Coaches Association (ABCA), the largest baseball convention in the world, and won “Best of Show” for the most innovative baseball product.

This company is on the fast track to success after they were announced winners by Collegiate Baseball Newspaper. The throwing arm sleeve is already becoming a staple in SEC and other college and high school baseball programs as their primary workload management tool. This product is gaining national attention among medical professionals, coaches, athletes, and parents. The support sleeve is currently the only wearable workload management tool that has objective data showing it significantly reduces elbow and shoulder stress for baseball pitchers. This is the first of its kind to be developed and introduced to the sports industry with hopes of finally being able to prevent rotator cuff injuries and career ending Tommy John surgeries that have cost Major League Baseball hundreds of millions.

Dr. Lawrence Lemak, Founder of ASMI & the National Center of Sports Safety reviewed the biomechanics abstract conducted by Motus Global on this product and stated that: “The data shows that this prototype could definitely have an impact in reducing throwing and overuse injuries.” The abstract concludes that this protective throwing sleeve can be used for injury prevention, workload management, rehabilitative return to throw programs, post injury/surgery, and also during regular play to significantly reduce stress on the throwing arm for baseball and other sports

Despite the increase in technological advancements and attempts to monitor pitch counts, the current UCL epidemic continues to rise. Tommy John cases have increased 700% in the last decade, according to Dr. Andrews, Founder of American Sports Medicine Institute (ASMI) – with over 60% of these cases being performed on young athletes ages 15-19. Baseball has doubled in revenue in the last decade and the industry is one of the highest grossing sports in the U.S. This allure will continue to attract young athletes, create more competition and showcasing, furthering the predicament of the industry losing money, professional athletes, and future athletes. Colleran stated, “There are helmets, elbow guards, groin protectors and other baseball protective gear, but nothing for the throwing arm, the one thing that will keep you in the game.” There are several new wearable technologies being used in effort to track pitchers data, but these won’t be able to help decrease stress during the process.

“The Perfect Arm definitely shows promising uses for not only rehab professionals, but performance coaches. I foresee this device ushering a new era of health and performance for throwing athletes.” Dr. Ryan Balmes, Owner of ENDVR Health, Board Certified Specialist in Orthopedics, and Sports Physical Therapy. The Perfect Arm offers athletes a viable solution, that utilizes MuscleWeb Technology, the first technology to mimic natural and dynamic musculoskeletal function – acting as an external muscular system to reinforce movement, increase velocity, and reduce stress to both the elbow and the shoulder. This sleeve is a “total game changer” as said by several collegiate coaches.

The Perfect Arm company is owned by Jason Colleran, a former athlete, suffered arm injuries for over 10 years before losing his career. His personal story behind this product is motivating and compelling. In short, he dedicated his life to baseball, and losing it all made him adamant to find solutions to help other athletes avoid this fate. He spent the last 20 years cultivating relationships, building his reputation, and his career as a Biomechanics Consultant for medical professionals and professional athletes. Colleran specializes in working hands on with injured athletes, and integrating Muscle Activation Techniques along with other modalities to identify and correct neuromuscular dysfunction. His Sports Performance facility in Atlanta is his lab where he collected years of data and feedback from athletes wearing his prototypes – enabling him to perfect and patent his design. The Perfect Arm company located in Atlanta, GA is a leading new sports company to help athletes around the world with their innovative and safety conscience products. http://www.theperfectarm.com website has a selection of products and additional research information.

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Meridian Clinical Research Logo

“Our current patients and people naive to research are asking about coronavirus and the vaccine development process. Whenever there’s an outbreak, it gives healthcare providers an opportunity to educate people about the importance of clinical research.”

OMAHA, Neb. (PRWEB)
February 28, 2020

Meridian Clinical Research, a leading investigative research network, is a finalist to win the 2020 Vaccine Industry Excellence (ViE) award for Best Clinical Trial Site. Meridian is also the largest member of Platinum Research Network, which is a finalist for the Best Clinical Trial Network award. These nominations were the result of two voting rounds, and winners will be announced at the World Vaccine Congress in Washington, D.C. in early April.

The nomination comes as Meridian has experienced its largest ever year for vaccine and infectious disease study enrollment. “We’re the partner of choice for many high-volume and specialized vaccine trials,” said Nicole Osborn, CEO. “2020 will be a crucial year for novel vaccine development. We’ve expanded our network, reinforced our in-house quality programs, and scaled up our processes to prepare for significant demand.”

As of mid-February, the CDC reported that influenza activity is still widespread in 47 states. The coronavirus (COVID-19) outbreak is also drawing greater attention in the U.S.

Meridian conducted clinical trials for Zika virus and anthrax vaccines in the past year. In 2015, Meridian also ran a Phase I study for the Ebola vaccine when the outbreak affected the Democratic Republic of Congo. Osborn said the spread of Zika and Ebola spurred many to ask Meridian about clinical trials.

“Our current patients and people naive to research are asking about coronavirus and the vaccine development process,” said Osborn. “Whenever there’s an outbreak, it gives healthcare providers an opportunity to educate people about the importance of clinical research. We encourage people to call us or talk to their doctors to learn more about the process.”

People interested in current studies and the research process can contact a Meridian call center — (402) 934-7563 in the Midwest and (912) 623-2240 for the South and East Coast.

To learn more about Meridian’s vaccine experience, visit mcrmed.com/vaccine. To view current study and career opportunities at its locations across the U.S., visit mcrmed.com.

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ABOUT MERIDIAN CLINICAL RESEARCH

Meridian Clinical Research partners with pharmaceutical and biotechnology companies to research new pharmaceutical drugs, medical devices, and diagnostics that could improve human health and wellbeing. Founded in 1999, Meridian is headquartered at a dedicated research center in Omaha, NE, and conducts Phase I-IV studies at investigative sites across North America. Meridian supports research across numerous therapeutic areas and specializes in high-volume vaccine trials. For more information, visit http://www.mcrmed.com.

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Drs. Suresh Kalathil, Yasmin Thanavala and Tariq Bhat in the lab at Roswell Park Comprehensive Cancer Center

We show conclusively that, when vaped, vitamin E acetate, which is often used as a cutting agent in e-cigarette liquids containing THC, can reach the lung and cause severe damage to the lung.

BUFFALO, N.Y. (PRWEB)
February 28, 2020

In August 2019, the first cases of an unknown lung injury associated with vaping products were reported to the U.S. Centers for Disease Control and Prevention (CDC). This initial cluster of cases would quickly grow to 2,807 cases across the country, leading to the deaths of 68 people, from e-cigarette, or vaping, product use-associated lung injury, or EVALI, by February 2020. A team of researchers from Roswell Park Comprehensive Cancer Center and the Environmental Health Laboratory in the CDC’s National Center for Environmental Health have published new evidence expanding on the initial conclusions from CDC-led analyses — that inhalation of vitamin E acetate (VEA) is strongly linked to EVALI.

The team, led by Yasmin Thanavala, PhD, Professor in Roswell Park’s Department of Immunology, has published these timely and important findings as a research letter in the New England Journal of Medicine (NEJM).

“We show conclusively that, when vaped, vitamin E acetate, which is often used as a cutting agent in e-cigarette liquids containing THC, can reach the lung and cause severe damage to the lung,” says Dr. Thanavala.

The team tested for several different markers of pulmonary injury, finding that VEA exposure led to higher levels of serum albumin in the bronchoalveolar lavage (BAL) fluid and both increased numbers of leucocytes and lipid-laden macrophages in the lung — providing further strong evidence of a causal link between inhalation of vitamin E acetate and EVALI illnesses.

This new report represents an important companion to the CDC’s December 2019 study, also published in the NEJM. That study concluded that vitamin E acetate was present in lung fluid obtained from 94% of 51 people affected by EVALI, all of whom had used at least one product containing tetrahydrocannabinol (THC), but was not found in the lung fluid of healthy control-group participants. The new research letter from Dr. Thanavala and team, which included a CDC collaborator, reports similar findings from studies in a preclinical mouse model.

“The minute I recognized that there was an inflammatory response occurring in some of these patients with a component of these large, foamy macrophages that contained lipids,” Dr. Thanavala says, “the light bulb went off. I decided that we needed to test in the laboratory setting whether in fact we could establish a linkage between what was seen clinically and whether we could mimic it or replicate it with exposure to aerosols of vitamin E acetate.”

“The observation that BAL fluid from EVALI patients contained vitamin E acetate was an important step toward understanding the causes of recent vaping-related lung injuries,” says James Kiley, PhD, Director of the Division of Lung Diseases at the National Heart, Lung and Blood Institute (NHLBI). “This finding that animals exposed to vitamin E acetate aerosols demonstrate many of the biological characteristics of EVALI patients reinforces that vitamin E acetate should not be added to vaping products. This potential animal model of EVALI is critical to further investigate pathological mechanisms and develop therapies.”

The team’s findings hold important takeaways both for the general public and the medical community.

“Our work reinforces how important it is that people take great caution in what is being vaped and the source of the liquids they are vaping,” Dr. Thanavala notes. “And I hope medical professionals will be sure to ask their patients not only whether they are smoking cigarettes but also whether they are vaping — and what they are vaping. Because we need to do everything we can to prevent others from developing EVALI.”

In addition to Dr. Thanavala, contributing to this work were Tariq Bhat, PhD, Suresh Kalathil, PhD, Paul Bogner, MD, and Maciej Goniewicz, PhD, PharmD, all of Roswell Park, and Benjamin Blount, PhD, of the CDC.

This research was supported in part by funding from the NHLBI (project no. R01HL142511) and National Cancer Institute (project nos. U54CA228110 and P30CA016056).

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Editor’s note: This release and a companion video are available on the Roswell Park website: https://www.roswellpark.org/newsroom/202002-roswell-park-finds-new-evidence-inhaled-vitamin-e-acetate-caused-evali-vapers

Roswell Park Comprehensive Cancer Center is a community united by the drive to eliminate cancer’s grip on humanity by unlocking its secrets through personalized approaches and unleashing the healing power of hope. Founded by Dr. Roswell Park in 1898, it is the only National Cancer Institute-designated comprehensive cancer center in Upstate New York. Learn more at http://www.roswellpark.org, or contact us at 1-800-ROSWELL (1-800-767-9355) or ASKRoswell@RoswellPark.org.

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