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A breakthrough medical technology can save the lives of children with heart defects. Scientists have developed the first-ever heart valve that grows with the child, reducing the need for risky heart surgeries in the future.

Children with congenital heart disease who need valve replacement often undergo multiple surgeries because the valve cannot grow as the child's heart grows. They need multiple heart surgeries to change the heart valve to accommodate the growing size of the heart. However, these surgeries are risky and pose a threat to the child's health.

To solve this problem, a team of scientists from Boston Children's Hospital developed a prosthetic valve that mimics the geometry of the human venous valve. Composed of polymeric leaflets attached to a stainless-steel stent, the valve can be expanded by a minimally invasive balloon catheter procedure, reducing invasive open-heart surgeries.

The doctors can use keyhole surgery to insert a rubber tube attached to a deflated balloon in the valve. They can inflate it depending on the child's heart size.

The valve replacement expanding to accommodate different lengths in implanted sheep. This material relates to a paper that appeared in the Feb. 19, 2020, issue of Science Translational Medicine, published by AAAS. The paper, by S.C. Hofferberth at Boston Children's Hospital in Boston, MA; and colleagues was titled, "A geometrically adaptable heart valve replacement." Image Credit: S.C. Hofferberth et al., Science Translational Medicine (2020)

Multiple heart surgeries

Congenital heart valve disease is life-threatening, and children with this condition may need valve replacement early in their lives. However, children grow, and the artificial heart valve may not be able to accommodate the heart's increasing size.

Many children with this condition face high-risk and multiple open-heart surgeries to remove the valves and replace then with bigger ones.

The scientists used computational modeling to predict how their valve replacement expanded to deal with the stress of blood flow. This material relates to a paper that appeared in the Feb. 19, 2020, issue of Science Translational Medicine, published by AAAS. The paper, by S.C. Hofferberth at Boston Children's Hospital in Boston, MA; and colleagues was titled, "A geometrically adaptable heart valve replacement." Credit: S.C. Hofferberth et al., Science Translational Medicine (2020)

For the first time, the new valve, a biomimetic prosthetic valve, adapts to accommodate growth and structural asymmetries within the heart. In previous heart valve models, they contain three leaflet-like flaps providing a one-way inlet or outlet for blood flow. However, in the new heart valve, it only has two flaps, with a geometry designed to maintain closure, and a one-way flow even when the veins expand in diameter.

"Veins carry approximately 70 percent of our blood volume. The vein dimensions can change dramatically depending on body position, yet the valves must remain functional. We mimicked the geometric profile of the human venous valve to design a bi-leaflet valve of programmed dimensions that is adaptable to growth without loss of one-way flow control," Dr.  Sophie C. Hofferberth, a surgical resident at Brigham and Women's Hospital and lead researcher at Boston Children's Hospital, said.

New artificial heart valve on the way

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The new heart valve has been tested in large animal models, computer simulations, and benchtop studies, demonstrating that it works across a broad range of sizes. What is more, it retains functionality and efficacy when it is expanded through a balloon catheter procedure.

The team tested the prosthetic heart valve in growing young lambs. When implanted on the animals, it exhibited good performance without the blockage of blood flow. In another test in other lambs, the valves stayed functional for ten weeks without causing inflammation or injury to the heart tissues.

Though the study requires human testing and longer-follow up times, there is more work needed to validate the design. If it passes through rigorous testing, it can help more than 1.35 million children across the globe who were born with a congenital heart valve disorder.

The researchers also found that the new prosthetic valve promotes favorable blood flow through the valve, reducing the risk for blood clot formation, which is often observed in existing valve replacement devices. With the invasive heart valve device, there are fewer complications that may endanger the life of the child.

The study was published in the journal Science Translational Medicine.

What is congenital heart valve disease?

The heart pumps blood throughout the body throughout the day, and it contains valves that are responsible for keeping the blood from flowing backward. As a result, the blood flow is controlled, and the oxygenated and non-oxygenated blood will not mix.

A congenital heart valve disease happens if one or more of the valves in the heart do not work well, leading to problems such as regurgitation, stenosis, and atresia. Usually, this occurs when a heart's valves do not develop before birth, causing a defect that keeps the valve from closing completely.

Regurgitations happen when the blood backflows because the valve does not close tightly or adequately. The most common cause of blood backflow is a valve prolapse.

Stenosis happens when the flaps become thick, stiff, or fuse, resulting in the inability of the valve to open fully. Stenosis leads to blockage of blood flow. Atresia pertains to a condition when the valve does not have an opening for the blood to pass through.

All these conditions lead to a wide range of heart problems and can endanger the life of the child. Over time, these problems can strain the heart because it works double-time to compensate for the valve defect. It can cause serious problems such as aortic aneurysm, dilated cardiomyopathy, and heart failure.

Source:

National Heart, Lung, and Blood Institute. (2020). Heart Valve Disease. https://www.nhlbi.nih.gov/health-topics/heart-valve-disease.

Journal reference:

Hofferberth, S., Saeed, M., Tomholt, Fernandes, M., Payne, C., Price, K., Marx, G., Esch, J., Brown, J. et al. (2020). A geometrically adaptable heart valve replacement. Science Translational Medicine. https://stm.sciencemag.org/content/12/531/eaay4006?rss=1.

A new study published in February 2020 in the journal JAMA Otolaryngology-Head and Neck Surgery shows that using mainstream media to depict rare diseases in a realistic manner can prompt greater public awareness and support for such conditions.

Rare diseases have a very small presence in this world, affecting about 400 million people around the globe. Despite the very few cases of each kind of disease, they often cause a lot of suffering and require significant treatment and rehabilitation. In other words, they create a heavy burden in financial terms as well as the amount of care they need, both on the patients and the health care system. Yet it is challenging to mobilize funds for research, prevention, and treatment, to raise awareness about the condition, or to get sufficient manpower.

Increasing the level of awareness is an urgent necessity, therefore. One possible way out is to show television shows focusing on these conditions as part of widely seen programs. One is the Netflix series, Stranger Things, which showcases the life of Dustin Henderson, a fictional individual born with the rare disease cleidocranial dysplasia (CCD). Henderson is portrayed by actor Gaten Matarazzo III who himself has this condition.

LOS ANGELES – JUN 28: Cast at the "Stranger Things" Season 3 World Premiere at the Santa Monica High School on June 28, 2019 in Santa Monica, CA. Image Credit: Kathy Hutchins / Shutterstock

CCD is a genetic condition in which the clavicles, or collar bones, and the teeth fail to grow or grow abnormally. These features are emphasized in scenes where Dustin is explaining the condition to his friends and colleagues.

However, symptoms vary between patients, even in the same family. CCD currently affects 1 in a million children the world over, both boys and girls.

The early features of abnormal bone development include a prolonged period of open fontanelles when the bones of the skull remain separate at the front and back of the head for more than the usual length of time. The absence of complete collarbones may make the chest appear narrow, and the shoulders are sloping. In fact, many of these children can make their shoulders touch in front.

Bone density is low, the pelvis is narrow, and the height shorter than expected. Baby teeth are lost early, and the secondary teeth arrive late, which may cause the jaw to be crowded with teeth and the jaw misaligned.

The disease is due to an abnormality of the RUNX2 gene, mostly due to a de novo mutation, that is, one which arises at random in the developing embryo rather than being inherited from the parents. If one of the two copies of this gene is affected, the condition will manifest itself.

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Treatment could include dental replacements, speech therapy, treatment of sinus and ear infections, supplementation with vitamin D and calcium, and protecting the head from trauma until the bones are fused.

The study

The current study uses Google Trends and data from websites related to CCD to examine the link between how the condition is portrayed on television shows and the resulting increase in public interest and awareness of CCD.

Google Trends was used to look at the trends for searches focusing on CCD after the show Stranger Things was released. The researchers did a worldwide search for searches with this keyword, over a 5-year period from 2014 to 2019. Also, they asked several foundations dealing with CCD, such as the Children’s Craniofacial Foundation, about any increase in the number of calls or website hits after each season’s release of Stranger Things. This was compared with the expected traffic.

The findings

The researchers found that search interest surged by over 94% after the third season’s release of Stranger Things. In comparison, an increase of about 11% and almost 13% was seen after season 1 and season 2.

Public interest in CCD was reported to increase by all websites related to this topic. However, quantifiable data were obtained only from the foundation About KidsHealth, which had, on average, 5 to 80 views of the CCD page each week, but in the week succeeding the third season’s release of the show, 10,000 visits.

Implications

The portrayal of the condition on the popular television show has helped spark interest in many individuals. Each season has seen a spurt in weekly searches above the predicted number. Meanwhile, Matarazzo has participated in setting up the new foundation CCD Smiles, which is focused on raising awareness of this condition around the world, helping affected people with their dental work, and helping research.

The importance of harnessing celebrity power is vast reach it can offer via already existing links to the public and the media.

And when public awareness increases, funding goes up, early diagnosis is more likely, treatment becomes more broad-based, and people learn to understand and cope with the disorder. This, in turn, helps those affected by it to develop more coping strategies, feel a greater sense of integration into the broader community, and have a better quality of life.

The media also has a catalytic role in helping hundreds of thousands of people to understand such conditions better and to make sure they are correctly represented. Accurate artistic depiction of such conditions is guided by the Entertainment Industries Council, which develops material to help writers and producers understand the disease better so they can present it correctly.

However, at present, there is no guide material for CCD and many other rare diseases. Therefore, the study concludes, “Although writers need to exercise caution when portraying characters with rare disorders, the inclusion of such characters in the mainstream media may be a beneficial strategy to raise awareness of them.”

Journal reference:

Johnson AL, Torgerson T, Cooper C, Khojasteh J, Vassar M. Public Awareness of Cleidocranial Dysplasia After Season Releases of Stranger Things. JAMA Otolaryngol Head Neck Surg. Published online February 20, 2020. doi:10.1001/jamaoto.2019.4791

Using cutting-edge imaging technology, researchers at Massachusetts General Hospital (MGH) have shown that the brains of young men with autism spectrum disorder (ASD) have low levels of a protein that appears to play a role in inflammation and metabolism. This surprising discovery, which published online today in the journal Molecular Psychiatry provides an important new insight into the possible origins of ASD, which affects one in 59 children.

ASD is a developmental disorder that emerges in early childhood and is characterized by difficulty communicating and interacting with others. While the cause is unknown, growing evidence has linked ASD to inflammation of brain tissue, or neuroinflammation. One sign of neuroinflammation is elevated levels of a substance called translocator protein (TSPO), which can be measured and located in the brain using positron-emission tomography (PET) and anatomical magnetic resonance imaging (MRI). The MGH study, led by Nicole Zurcher, PhD, an investigator in MGH's Athinoula A. Martinos Center for Biomedical Imaging, was the first to use a new generation of PET "tracers," which more accurately detect TSPO, to examine the brains of people with ASD.

In the study, Zurcher and her colleagues scanned the brains of 15 young adult males (average age, 24) with ASD. The group included both high- and low-functioning subjects with varying degrees of intellectual abilities. For comparison, Zurcher's team scanned the brains of 18 healthy control subjects who were similar in age. The investigators hypothesized that the scans would show increased levels, or expression, of TSPO in subjects who have ASD.

"To our surprise, that's not what we saw," says Zurcher. Instead, the scans showed that the brains of males with ASD had lower levels of TSPO than those of the healthy subjects. In fact, the men with the most severe symptoms of ASD tended to have the lowest expression of TSPO. When the tests were repeated several months later, the pattern persisted. The brain regions found to have low expression of TSPO have previously been linked to ASD in earlier studies, and are believed to govern social and cognitive capacities such as processing of emotions, interpreting facial expressions, empathy, and relating to others. "We know these brain regions are involved in autism," says Zurcher.

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To understand this unexpected finding, Zurcher notes that TSPO does more than serve as a marker of inflammation. "It has multiple complex roles," she says, and some actually promote brain health. For example, adequate TSPO is necessary for normal functioning of mitochondria, which are the "power houses" in cells that produce energy. Earlier research has linked malfunctioning mitochondria in brain cells to ASD.

Zurcher and her colleagues next plan to study brains from deceased donors with the goal of determining which brain cells in people with ASD might experience mitochondrial dysfunction, which she says may well be occurring alongside neuroinflammation and other mechanisms to cause ASD.

Our study has generated new hypotheses that now need to be investigated. There's more work to be done."

Nicole Zurcher, PhD, investigator, MGH's Athinoula A. Martinos Center for Biomedical Imaging

Source:

Massachusetts General Hospital

Journal reference:

Zürcher, N.R., et al. (2020) [11C]PBR28 MR–PET imaging reveals lower regional brain expression of translocator protein (TSPO) in young adult males with autism spectrum disorder. Molecular Psychiatry. doi.org/10.1038/s41380-020-0682-z.