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Proof of Concept for Sharing Rare Disease Data Across Borders Is Crucial Step for Diagnoses

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Those who contracted COVID-19 are experiencing what it’s like to have a condition that is difficult to diagnose without clear treatment options. This is the norm for people living with a rare disease. There are 7,000 rare diseases identified so far, often with broad symptoms, varying in severity from patient to patient. This causes not only a lengthy and difficult diagnosis process, but also a lack of available data for treatment given only a handful of people living in the same country are suffering from the same disease. In fact, treatments may be underway in one country unknown to the patients in another.

Over the last two years, the World Economic Forum’s precision medicine team led a pilot project called Breaking Barriers to Health Data, designed to ensure that people living with rare and other complex diseases were not missing out on life-saving diagnoses and treatments.

The health data consortium was developed with the Australian Genomics Health Alliance, Genomics4RD, Genomics England, and Intermountain Healthcare as well as 85 stakeholders from academia, government, and industry with the aim of sharing genomic data for rare diseases across borders.

The team produced a proof of concept that outlines how countries can come together, use pre-existing datasets of coded and de-identified patient information and access other datasets across country borders with similar data types. Australia and Canada reached an agreement on how to deploy this proof of concept and will likely test it later this year.

“Sorting through the human genome is like going through 100,000 digital photos – it’s a complex task that takes time and money,” said Lynsey Chediak, Project Lead, World Economic Forum. “It takes on average five to seven years to diagnose a rare disease. I was one of the lucky ones, a person living with a rare disease diagnosed at the age of 5. But, due to the time to diagnose, in some places, one-quarter of children will not live to see their tenth birthday. That can change. Sharing genomic data is a huge undertaking, but it is not particularly difficult technically. The larger challenge is how to form the necessary relationships between institutions that enable trust and transparency and sustained, predictable operations. Our project showed us that this can be done.”

Many countries want to share data in theory but are unable to do so due to data security, patient privacy and incompatibility in operating standards. A federated data system is a technical solution that can mitigate many of these concerns. Participating in a sensitive health data consortium is the only way to maximize volumes of data already collected, sitting in silos around the globe.

This has been a valuable exercise to explore how to maximize the utility of our existing datasets. Participating in this mode of international collaboration will be increasingly important to progress our shared knowledge of genomics – particularly in rare diseases,” said Tiffany Boughtwood, Manager of the Australian Genomics Health Alliance. “Working with the Forum over the last two years, we have created a clear governance structure and strong partnerships with like-minded genomics institutions beyond Australia’s borders.”

“This is an exciting proof of concept, showing how standards developed by the Global Alliance for Genomics and Health community can be put into practice and have a real impact on patients living with a rare disease,” said Oliver Hofmann, Co-Chair of the Global Alliance for Genomics and Health (GA4GH) Large Scale Genomics working group.

“Interoperability is key to enabling the responsible sharing of genomic and health related data for the benefit of humans everywhere,” said Peter Goodhand, Chief Executive Officer of the Global Alliance for Genomics and Health. “At GA4GH, we develop the technical standards that allow for such interoperability, but getting them into real-world practice is the most critical step. Through collaborations like the Breaking Barriers to Health Data project – which leverages the GA4GH Data Use Ontology and Framework for Responsible Sharing of Genomic and Health-related Data – we are beginning to see how our work can add real value to the global patient community.”

“As the parent of a child with an undiagnosed rare condition, access to state-of-the-art genomic testing is like winning the lottery,” said Durhane Wong-Rieger, President of the Canadian Organization for Rare Disorders. “The idea that my child’s genomic data could be interpreted using a federated database and then contribute back to this data system is like winning the trifecta. As president of the Canadian Organization for Rare Disorders, I am excited to be part of this pilot, and as chair of Rare Disease International, I anticipate the day when all patients across the world will take part.”

“Limited data is a common feature of rare diseases, resulting in high uncertainty, which impacts every part of people’s lives,” said Nicole Millis, Chief Executive Officer of Rare Voices Australia. “Australia’s National Strategic Action Plan for Rare Diseases calls for improvements to rare disease data collection and use, including best-practice safe storage and data sharing. One of the critical enablers of this is ‘state, national and international partnerships.’ The safe and anonymous sharing of rare disease data across borders will provide key decision-makers at all levels with greater knowledge of rare diseases, which can facilitate more responsive and appropriate services for people living with a rare disease, as well as their families and carers.”

“Care4Rare Canada is thrilled to be an active partner in this collaboration led by the World Economic Forum,” said Kym Boycott, Chair of Genetics at CHEO, Senior Scientist at the CHEO Research Institute, Professor at the University of Ottawa, and project lead of Care4Rare. “We set out to design Genomics4RD and its governance in a way that would enable this type of rare disease data connection. We have long believed that international data consortia, such as this, will lead to more diagnoses for our patients otherwise living without answers.”

By following the findings in this guide, the Forum hopes to encourage a cohesive, symbiotic relationship between health institutions throughout the world that may otherwise have different models of consent, operations, security and technology.

The Breaking Barriers to Health Data project aims to craft and test a scalable governance framework to support the effective and responsible use of federated data systems to advance rare disease diagnosis and treatment. It is part of the World Economic Forum’s Health and Healthcare platform. The first case study will focus on enabling cross-border access to rare disease genomic data between four countries.

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Health & Wellness

Omicron: Don’t panic but prepare for likely spread

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As scientists continue to investigate the Omicron COVID-19 variant, the UN World Health Organization (WHO) on Friday urged countries not to panic but to prepare for its likely spread.

Heralding South Africa’s and Botswana’s decision to report the appearance of the Omicron coronavirus mutation last month, the UN health agency repeated that it will take another two weeks before more is known about how transmissible and how dangerous it actually is.

Speaking in Geneva, WHO spokesperson Christian Lindmeier stressed that data suggesting that Omicron was highly transmissible was only preliminary.

Unnecessary travel bans

He also repeated WHO advice against blanket travel bans, except for countries whose health systems were unable to withstand a surge in infections.

“It is much more preferred to prepare your country, your health system to possibly incoming cases because we can be pretty sure that this Omicron variant will spread around,” he said.

The Delta mutation – declared a variant of concern this summer – is now “predominant”, Mr. Lindmeier added, “with over 90 per cent all around the world. This is how this virus behaves and we will not most likely be able to keep it out of individual countries.”

The WHO official also cautioned against knee-jerk reactions to reports that Omicron had continued to spread.

“Let’s not get deterred right now, let us first get as much information as possible to make the correct risk assessment based on the information that we will have and then let’s move on,” he said.

“Let’s not get completely worried or confused by individual information which are all individually important, but which need to be brought together in order to assess together.”

Surge team for South Africa spike

The development comes as WHO said that it was sending a technical surge team to South Africa’s Gauteng province to monitor Omicron and help with contract tracing, amid a spike in coronavirus reinfections.

For the seven days leading to 30 November, South Africa reported a 311 per cent increase in new cases, compared with the previous seven days, WHO said on Thursday.

Cases in Gauteng province, where Johannesburg is located, have increased by 375 per cent week on week. Hospital admissions there rose 4.2 per cent in the past seven days from the previous week. And COVID-19-related deaths in the province jumped 28.6 per cent from the previous seven days.

Announcing the surge team deployment, Dr Salam Gueye, WHO Regional Emergency Director for Africa, noted that just 102 million Africans in Africa – 7.5 per cent of the continental population – are now fully vaccinated and that more than 80 per cent of the population has not received even a single dose. “This is a dangerously wide gap,” he said.

In a statement, WHO said that South Africa is reportedly seeing more patients contracting COVID-19 after having already been infected, in a way it did not with previous variants, citing a microbiologist from the country’s National Institute for Communicable Diseases (NICD).

Working with African governments to accelerate studies and bolster the response to the new variant, the World Health Organization (WHO) is urging countries to sequence between 75 and 150 samples weekly.

Detection ‘bought the world time’

The detection and timely reporting of the new variant by Botswana and South Africa has bought the world time,” said Dr Matshidiso Moeti, WHO Regional Director for Africa.

“We have a window of opportunity but must act quickly and ramp up detection and prevention measures. Countries must adjust their COVID-19 response and stop a surge in cases from sweeping across Africa and possibly overwhelming already-stretched health facilities.”

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Best Extracurricular & After-School Activities to Reduce Stress

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Being a student is a fun and exciting experience. However, it is also tightly connected with constant stresses. The lack of free time, stressful exams, tight deadlines – these and other challenges often make students’ lives unbearable and lead to various health issues. And, unfortunately, there is no way to eliminate stress from your college life completely.

So, since stress is an integral part of a student’s life, are there any ways to ease it? Living in a constant state of stress is definitely not an option. But, luckily, there are ways to prevent and reduce stress. One way to do this is to do my essay cheap and take a break from your academic issues. But, there is also another way.

In this article, we have collected the top seven activities that are proven to reduce stress levels and can help students survive in their intensive, busy college lives.

1.      Meditation

Meditation is one of the most widely known stress relief activities. Even a 10-minute session can provide you with short-term stress relief, and, apart from this, mediation is proven to deliver long-term stress management benefits too.

So, if you are feeling tired and anxious, try meditating. There are plenty of different practices, so everyone should find something to suit their needs. Be sure to give it a try.

2.      Sports

Another activity students can try to improve overall well-being and get rid of stress is any kind of sport. Doing sports regularly will keep you fit and provide a long list of physical and mental health benefits, including stress relief.

If you are wondering how to get started, the easiest way to make sports a part of your everyday life in college is to join one of your school’s sports teams. It can be anything that feels right for you. The only thing to keep in mind is that being on a team will most likely take lots of your free time. So, if you don’t want your academic performance to drop, you might need to enlist the help of DoMyEssay to have someone who can take care of your assignments in any situation.

3.      Arts

For decades, different forms of art were considered to be effective stress-relievers. Not without reason, psychologists often use art therapy as a tool to help patients cope with a variety of mental health issues. And, the good news is that you don’t even need to go to a therapist to feel the positive effects of art on your well-being.

To try this activity, choose a form of art that suits you best. It can be anything from coloring a coloring book to painting or making music. Try different options to find what works for you and devote at least a bit of time a day to your art therapy, and soon, you will notice the first positive effects.

4.      Yoga

We’ve already told you that sports and meditations are good for your mental health. Yet, yoga deserves to be a separate point on our list because it has a bit of both. Regardless of the chosen type of yoga, such practices are all about breathing, meditating, and finding a balance. All these things are powerful in terms of stress relief.

In addition to this, yoga is known to boost mood. So, if you feel like you are lacking tranquility and a feeling of happiness, be sure to try practicing yoga. We bet that once you get used to it, you will never want to go back.

5.      Dancing

The next after-school activity that can boost your mood and reduce stress is dancing. This activity involves two powerful stress-relievers – music and physical activity. Together they can have an effect much more powerful than anything else.

Want to give it a try? It is easy to get started. Try joining some dance classes or, if you don’t have much free time, just dance at home like no one is watching. One way or another, the benefits will be felt straight away.

6.      Stretching

Stretching your body is one more activity that will boost your well-being. According to numerous studies, physical flexibility is closely interlinked with mental flexibility. Therefore, stretching is known to reduce tension, help fight anxiety, reduce stress and depression, and trigger positive emotions.

Just like in the case with other activities we’ve mentioned in this article, stretching can be done right at home. All you need is a bit of free time, some soothing music, and a knowledge of some basic exercises. However, if you have time to join a stretching class, it would be even better because this way, you will also get an additional opportunity to socialize, which is also good for your well-being.

7.      Crafting

Different types of crafting are also good for fighting stress. Whether it is knitting, needlework, ceramics, or any other activity, it will definitely bring its benefits as long as you are enjoying the process.

The key trick here is to get distracted from your daily routine and get deeply involved in doing something creative. Just like it is in the case of arts, connecting with your creative side with the help of crafting can help you prevent and cope with a variety of mental health issues.

To Sum Up

So, now you know about the top seven most stress-relieving activities that you can do after studies to boost mood and ensure overall well-being. All you need to do is to find the best option for you and make it a part of your life!

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Health & Wellness

Left Ventricular Aneurysm Surgery

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A heart aneurysm is a serious illness that causes impairment of the contractile activity of the affected area of the heart muscle. Most often such pathology develops in the wall of the left ventricle of the heart. The disease more often affects men over the age of 40. Aneurysm detected in the heart grows only up to a certain size, but always requires surgical treatment.

Treatment for left ventricular aneurysm

Today physicians cope with heart aneurysms only by surgery. This is the only effective method that can completely cure a patient. Medication therapy is only used to temporarily improve the condition of patients with left ventricular aneurysms. If a patient is diagnosed with a left ventricular aneurysm, urgent surgical treatment is prescribed in the presence of the following indications:

  • Severe heart rhythm abnormalities
  • Formation of a blood clot in the aneurysm
  • Rapidly developing heart failure
  • Aneurysm rupture

Surgical treatment of acute and subacute heart aneurysms is indicated in the rapid progression of heart failure and the threat of aneurysmatic sac rupture. In chronic cardiac aneurysm, surgery is performed to prevent thromboembolic complications and for myocardial revascularization.

As a palliative intervention, strengthening of the aneurysm wall with polymeric materials is resorted to. Radical operations include ventricular aneurysm resection (if necessary – with subsequent reconstruction of the myocardial wall).

How is the surgical treatment carried out?

During this procedure, the patient’s chest is opened and the blood flow through the heart is stopped. A special device is attached to the main vessels, which continues to maintain the pumping function while the heart remains inactive. Only then a surgeon removes the aneurysm. Vascular bypass is also performed, if necessary. After a cardiac aneurysm is excised, the treatment process is not over. After the operation, it is necessary to stay under the supervision of healthcare professionals, because there is a risk of complications.

In a post-traumatic aneurysm of the heart, the heart wall is sutured. If additional revascularizing intervention is necessary, aneurysm resection with CABG are performed simultaneously.

In the preoperative period, patients with a left ventricular aneurysm receive cardiac glycosides, anticoagulants, hypotensive drugs, and oxygen therapy.

As a rule, small left ventricular aneurysms do not require special methods of repair after the procedure. The defect after aneurysmectomy can be closed by a simple linear suture, which is effective and the most suitable option for such situations.

After left ventricular aneurysmectomy and possible plasty, the development of low ejection syndrome, repeated myocardial infarction, arrhythmias (paroxysmal tachycardia, atrial fibrillation), suture failure and bleeding, respiratory failure, renal failure, cerebral thromboembolism is possible.

Is it worth going abroad for treatment during a lockdown?

All of the above conditions pose a serious threat to a person’s life, so the start of treatment should not be delayed. Left ventricular aneurysm surgery should only be performed by an experienced physician because it is a very complex intervention. And the absence of timeliness and quality of the intervention becomes the reason why people go abroad to treat left ventricular aneurysms.

You might think that it isn’t worth jumping straight into it in the middle of a lockdown. But if you need to go abroad for treatment, you can. Yes, you may need to wait a bit longer to get a visa, but it also doesn’t have to be that way.

Booking Health knows all of the ways to organize the left ventricular aneurysm surgery as soon as possible. The company will help you to get a visa if you’re applying for the first time or if your request has been declined. Booking Health will also help you choose a hospital that suits your preferences, prepare all the necessary documentation, book the flight tickets and accommodation, and will do every single treatment-related thing for you.

For Booking Health to help you, please, leave a request on the official website, and a medical advisor will contact you.

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