Special Edition 9th AIMS Meeting

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Ressonância 9th AIMS Special Edition - March 2018 Editors

Afonso Schönenberger Braz Ana Raquel Estalagem João Bastos José Rodrigues Mariana Lourenço Sérgio Bronze Sofia Pessoa Jorge

Staff

André Jin Ye Bárbara Rodrigues Catarina Relvas Diogo Rosa Ferreira Francisco Baptista Francisco Morais Guilherme Vilhais Inês Almeida Lourenço José Durão José Pedro Vinhal João Francisco dos Santos Maria H. Viegas Miguel Antunes Sofia Prada

Graphic Design Afonso Morais Humberto Freire Mariana Lourenço Sofia Pessoa Jorge

PRINTING AND PROPERTY

Editorial Section of Associação de Estudantes da Faculdade de Medicina de Lisboa editorial@aefml.pt Associação de Estudantes da Faculdade de Medicina de Lisboa Avenida Professor Egas Moniz, Hospital Santa Maria - Piso 01, 1649-035 Lisboa 217 818 890 | ressonancia@aefml.pt www.aefml.pt | facebook.com/ressonanciaaefml Legal Deposit: 178455/02 Print Run: 800 copies Distribution: free

Index OPENING MESSAGE 5

Under Pressure OVERCOMING PRESSURE 8 EMERGENCY MEDICINE 11 KEYNOTE A JOURNEY TO THE UNKNOWN 13

One of a Kind RARE PEOPLE WITH RARE NECESSITIES 18 SPECIAL PHARMACOLOGICAL INVESTMENT IN RARE DISEASES 20 THE RIGHT TO HEALTH 23 PHARMACOGENETICS: DOES ONE DOSE FIT ALL? 24 KEYNOTE YESTERDAY’S NAVIGATORS, TOMORROW´S INVESTIGATORS 26

The Future is Now MEDICAL EDUCATION IN THE NEW TECHNOLOGICAL WORLD 30 mHEALTH - A WORLD IN EXPANSION 32 ARTIFICIAL INTELLIGENCE: AUGMENTING OR REPLACING DOCTORS? 34 DR ANTHONY ATALA AND THE PROMISE OF REGENERATIVE MEDICINE 36

Charity Program AIMS GIVING 39

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É A NOSSA VEZ XXVI SARAU CULTURAL AEFML

22 DE MARÇO AULA MAGNA DA REITORIA DA ULISBOA 4 • RESSONÂNCIA

OPENING MESSAGE

O

ur concept of being a good doctor is deeply personal and forever evolving. For some, it could mean being the greatest technician, mastering a procedure like no other. For others, it could be found across the deepest care for human beings.

Whatever was your drive to become a health professional, in the 9th edition of the AIMS Meeting we want to help you get closer to the one you dreamt of being.

Something changes in us when we hear a lecture that is greatly challenging or we meet someone that motivates us to become better. A brighter light shines through us when we learn something new.

In an ever so demanding professional field, in this edition we chose to cover topics that we hope will inspire you. We invited some of the most notable speakers in the fields of Emergency Medicine and Trauma, Rare Diseases and Innovation and Technology, trusting that they would be the role models you were missing.

In the 9th AIMS Meeting issue of Ressonância we explore themes such as artificial intelligence, technology at the service of medicine, overcoming pressure, diagnosis and treatment of rare diseases and regenerative medicine.

In other parts of the issue, we underline the importance of associations like Raríssimas, which deal with diseases that affect a small number of individuals, and introduce some of our speakers in greater depth.

There are as many possibilities for the way we turn out as doctors as there are familiy backgrounds, health systems and educational philosophies (there really are a lot of the latter). No matter what made us want to become doctors or what kind of professional we thought we would grow up to be, there is not a universal definition of “good doctor”. There is no manual to consult, boxes to check or a single example to follow. Be excellent. We are quite sure that will be enough.

Catarina Relvas General Coordinator of the 9th AIMS Meeting

| 9th AIMS Meeting Organising Committee

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OVERCOMING PRESSURE

Strategies to Increase Performance in High Stress, High Pressure and Emergency Situations

by José Pedro Vinhal

I

n an ever-changing, always challenging and constantly recreating world, our adaptation capacity to stressful situations sets the probability for us to succeed or to fail in that specific context.

Stress can be defined as a “process by which certain work demands evoke an appraisal process in which perceived demands exceed resources and result in undesirable physiological, emotional, cognitive and social changes”.

At some point in our lives as laymen and citizens without firstaid knowledge, we are bound to face certain circumstances that have the potential to ask from us capabilities and psychological discernment that we are not trained to have.

We can only conclude that health professionals are exposed to even more situations with that potential; being the only difference that, that set of emotional and mental strategies along with an updated and evidence-based medical knowledge is mandatory not only to fulfil their obligations as physicians but also their social roles as caregivers.

Cardiorespiratory failure, hypovolemic shock, car, train or plane crashes, natural disasters and even bioterrorism are just a few summarized examples from a never-ending list of stress causing occurrences.

Our minds are exposed to a perceived as stressful event and respond to it by sending neuronal signals to our respiratory, cardiovascular, endocrine, gastrointestinal and nervous systems producing the classic manifestations of stress such as hyperventilation, fight or flight response increase in heart rate (tachycardia) and in the strength of the contractions, dilated blood vessels and elevated blood pressure - increased level of stress hormones, such as

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adrenaline and cortisol that will originate liver production of glucose and, furthermore, the activation of the Autonomic and Somatic Nervous System.

Emergency personnel are continuously dealing with “emotional exhaustion: the depletion of emotional energy by continued work-related demands; depersonalization: a sense of emotional distance from one’s patients or job, and low personal accomplishment: a decreased sense of selfworth or efficacy related to work.” Ultimately, these aspects added to having to perform expected life-saving procedures on patients with an overall poor health condition, give away to the well-known “burnout phenomenon”.

Our minds are exposed to a perceived as stressful event and respond to it by sending neuronal signals to our respiratory, cardiovascular, endocrine, gastrointestinal and nervous systems producing the classic manifestations of stress.

With the purpose of promoting health and wellness and increasing resiliency among emergency personnel, as well

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| Trauma patient emergency treatment as adopting preventive and proactive behaviours a threefold approach is proposed: (1) Acceptance that stress or pressure does affect human mind and body and knowledge of how it does so, (2) Skillset increase, and (3) High stress and high-pressure environments simulation.

Emergency personnel are continuously dealing with “emotional exhaustion [...] depersonalization [...] and low personal accomplishment [...]”.

The first step towards a better understanding of stress and pressure is acknowledging that our aptitude to cope with them is intimately related to our individual perception and interpretation of an event. Studies suggest that there aren’t stressful circumstances that automatically lead to problems in judgment but instead it is the perceived experience of distress.

It is also important to note that both improved and diminished performance have been associated with highpressure and high stress environments.

These conclusions come from investigations where heightened demanding settings significantly altered psychological traits such as judgment, attention, decisionmaking and behaviour during emergencies.

Contrary to general beliefs, judgment isn’t always impaired in this kind of situations and although attention may be narrowed (the data is not conclusive), this doesn’t mean that decision-making will be compromised. Has been shown that the ability of an individual or a team to adapt to a new and more demanding scenario, adopt a simpler mode of information processing and focus on critical issues are key predictors of a superior performance.

In addition to being aware of the effects of stress, developing cognitive and behavioural skills (like staying sharp and updated on medical knowledge, emergency training, psychological control strategies and mental practice) can enhance performance under stress or pressure, help with decreasing the perception of said pressure and stress and promote more efficient decision-making procedures.

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UNDER PRESSURE This constitutes the second step to increasing performance.

that can make your stress clock tick helps one strengthen

The main goal of this process is to intensify attention and concentration on relevant task performance and, at the same time, reduce distractions (e.g., negative thinking).

learned abilities during the second step. Information

A better control over physiological reactions to stress can be achieved with the development of coping methods and stress relief techniques. These techniques may include breathing and other relaxation strategies (e.g., muscle relaxation) to reduce tension, heart rate, and nervousness.

overload, time pressure and ambiguity are some general stressors that emergency personnel should know how to handle, whilst knowing that event-specific stressors may also be present. While in training it is recommended “increasing the intensity of stressors after each successful demonstration of task proficiency”.

Stress and high-pressure are common elements with which emergency personnel have to share their jobs. While some

Contrary to general beliefs, judgment isn’t always impaired in this kind of situations and although attention may be narrowed (the data is not conclusive), this doesn’t mean that decision-making will be compromised.

Mental practice is an approach used by elite athletes when preparing for a competition where they mentally rehearse specific skills and performance elements. It has been showed that it’s a strategy that directly relates to better performances. It’s most beneficial for situations that require an important cognitive effort and it’s more useful when delays between mental practice and performance are minimized.10 Therefore, mental practice may be more suitable for people preparing to execute complex and cognitively loaded tasks (e.g., emergency personnel).

All the strategies above can be aided by a cultural change in medicine addressing physician self-care. By providing a positive educational environment for physicians and wellness education and progressively eliminating stigma associated with admitting stress and burnout, we can increase resiliency, motivation, endurance and psychological preparedness to face critical events.

Finally, after developing the desirable skills to perform best under high pressure circumstances, the third step consists on practicing under conditions that simulate real environments. Exposure to elements, known as stressors,

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inherent personality traits can ease performance under stress, it has been showed that knowledge, cognitive and psychological training and simulation practice can minimize disadvantageous effects of stress and, ultimately, maximize performance. • References

Salas, E., Driskell, E., and Hughs, S. (1996). The study of stress and human performance. In:Driskell, J.E. and Salas, E. Editors, 1996 Stress and Human Performance Lawrence Erlbaum Associates, New Jersey, pp. 1- 45. | Schmitz G, Clark M, Heron S, Sanson T, Kuhn G, Bourne C, Guth T, Cordover M, Coomes J. Strategies for coping with stress in emergency medicine: Early education is vital. J Emerg Trauma Shock. 2012 Jan;5(1):64–9. | Gillis, J.S. (1993). Effects of Life Stress and Dysphoria on Complex Judgments. Psychological Reports, 72, 1355-1363. | Hammond, K.R. (2000). Judgments Under Stress, Oxford University Press, Inc. New York, New York | Poulton, E.C. (1976). Arousing environmental stresses can improve performance, whatever people say. Aviation, Space, and Environmental Medicine, 47, 1193-1204. | Hammond, K.R. (2000).

Judgments Under Stress, Oxford University Press, Inc. New York, New York. | Flanagan, J. (1954). The critical incident technique. Psychological Bulletin, 5 1, 327-358. | Kontogiannis, T. and Kossiavelou, Z. (1999). Stress and team performance: principles and challenges for intelligent decision aids. Safety Science, Vol. 33, Issue 3. December 103-128. | Serfaty, D. and Entin, E.E. (1993). Adaptation to Stress in Team Decision-Making and Coordination, Proceedings of the Human Factors and Ergonomics Society 37’ Annual Meeting Vol. 2, pp 1228 - 1232. Santa Monica, CA: Human Factors and Ergonomics Society. | Driskell, J. E., C. Copper, and A. Moran (1994). Does mental practice enhance performance? Journal of Applied Psychology, 79(4), 481. | Hinshaw, K. E. (1991). The effects of mental practice on motor skill performance: Critical evaluation and metaanalysis. Imagination, Cognition and Personality. | Johnston, J. H., and J. A. Cannon-Bowers (1996). Training for stress exposure. In J. E. Driskell and E. Salas (eds.), Stress and Human Performance (pp. 223–256). Mahwah, N.J.: Erlbaum. | McClernon, C. K. (2009). Stress effects on transfer from virtual environment flight training to stressful flight environments (Tech. Rep. No. ADA-501682). Monterey, Calif.: Naval Postgraduate School. | McClernon, C. K., M. E. McCauley, P. E. O’Connor, and J. S. Warm (2011). Stress training improves performance during a stressful flight. Human Factors, 53(3), 207–218. doi: 10.1177/0018720811405317. | Keinan, G., and N. Friedland (1996).

Training effective performance under stress: Queries, dilemmas, and possible solutions. In J. E. Driskell and E. Salas (eds.), Stress and Human Performance (pp. 257–277). Mahwah, N.J.: Erlbaum.

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EMERGENCY MEDICINE What is the best way to teach it?

by Maria H. Viegas

O

ne of the first steps in teaching Emergency Medicine is to establish learning objectives and evaluation methods, through an orientation session. To do this, the instructor must learn about the students’ needs and previous knowledge, setting adequate expectations to their level of experience, encouraging the learner to commit to a plan and tailoring the experience in the Emergency Department (ED) to an adequate and productive level. For instance, inexperienced students should start with more straightforward cases.

It is important that the instructors approach teaching opportunities more like coaches and less like lecturers, giving the students their full attention and allowing them to arrive to the diagnosis by themselves.

Expert ED teachers have been found to rely heavily on four teaching methods under most conditions: Questioning, as a means to identify the learner’s needs; Advice Giving; Limited Teaching points, since one of the biggest pitfalls in clinical teaching is trying to teach too much) and Patient Updates.

It is important that the instructors approach teaching opportunities more like coaches and less like lecturers, giving the students their full attention and allowing them to arrive to the diagnosis by themselves.

In the ED, didactic and clinical components must be combined. The didactic portion can be set as a standardized combination of activities like lectures, independent reading and procedure labs. The clinical experience can vary widely depending on the students’ motivation.

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A successful course is one in which critical thinking and patient management skills are developed. This involves learning how to generate differential diagnoses, observing and performing routine procedures and being a part of the cooperative work environment needed in the ED. It is essential or the students to receive feedback which addresses their behaviour rather than attacking the individuals, The focus should be on on their medical knowledge base, clinical and organizational skills and interpersonal behaviours. Both positive and negative feedback can reinforce and modify clinical performance.

Self-reflection may also be useful.

However, the clinical arena is the place where students can augment their basic knowledge and have new learning experiences altogether. The most common place for faculty involvement should be at the patient’s bedside, where the educator can ensure the patient’s safety while targeting the students’ needs, allowing them to perform an independent history and physical examination within a specified time frame, under direct supervision of the educator. This allows them to experience a sense of clinical independence, to learn how to assess the undifferentiated patient by recognizing acute, life-threatening conditions, and to l develop reasonable treatment strategies.

It is important to realise that learning is a process that occurs in gradual stages. The attainment of higher levels of knowledge requires more faculty input and guidance than the simple acquisition of facts.

Student presentations, ideally focused on the management of the critically ill patient, in a nonclinical setting also provide an opportunity for extended learning of a topic, removing the time pressure that exists in the ED. It gives the students a chance to collaborate in solving the problem , just like in a full-scale human simulation, which has the advantage of adding a sense of urgency to the patient’s needs and recreating some of the behaviours displayed in a real ED crisis. These methods allow them to make a connection between the theoretical-practical knowledge and its application in real situations, in a protected environment.

A successful course is one in which critical thinking and patient management skills are developed.

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We can conclude that teaching methods should always be adapted to the learner’s experience level and patient acuity.

At last, another excellent learning opportunity in the ED is to capitalize on the endless variety of cases, broadening the students’ clinical experience while focusing on one teaching point for each patient. If the patient s aren’t academically interesting, they can be made interesting artificially by asking “what if…?”.

We can conclude that teaching methods should always be adapted to the learner’s experience level and patient acuity, to increase the students’ success. • References

https://www.ncbi.nlm.nih.gov/pubmed/15001414 | http://onlinelibrary.wiley.com/doi/10.1111/j.1553-2712.2004.tb02215.x/ abstract;jsessionid=05CC8C8322C908ACA266DD5CFDA480F6.f03t04 | https://www.ijme.net/archive/4/emergency-medicine-teaching-methods. pdf | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2464654/ | http:// editorauss.uss.br/index.php/RS/article/viewFile/460/pdf

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KEYNOTE

A JOURNEY TO THE UNKNOWN

by André Jin Ye

C

uriosity - A simple and innocent word, so intrinsically connected to human nature and of invaluable importance to the course of mankind.

A curious mind is one thirsty of knowledge, for whom basic principles do not suffice, as it is always looking for more.

With it, science and technology were born, along with the desire to explore the planet Earth. But times are changing, and curiosity has long fixed its target to the unknown, outside our boundaries: the space.

The launch of Sputnik 1 by the Soviet Union in 1957 marked the start of a new era of political, scientific and technological achievements, referred to as the Space Age. The peak of this age culminated with the Apollo program

by NASA, capturing and inspiring the imagination of the world. Currently, several countries have space programs, and commercial interests have gained special focus, in particular private spaceflight. Traveling to space and discovering new frontiers certainly has a heroic and epic sentiment to it. However, whilst the unexplored can be a door to triumph and conquer, it can also be a door to hazard and health dangers.

So far, research has shown that spaceflight does indeed affect human physiology. Microgravity refers to a condition of near weightlessness associated with spaceflight, causing astronauts to float. The homeostatic nature of our body makes it undergo deep changes to adapt to this new environment. Although most are beneficial, some prove to be maladaptive. Sensorial disturbance is the most immediate noticeable effect, distressing the vestibular system. As a result, 60 to 80% of astronauts experience space adaptation syndrome within the first three days, with symptoms such as nausea, pallor and vomiting. If we look into the long-term

| Dr. Beth Healey, Keynote Speaker effects of microgravity, a plethora of systems are disturbed: bone demineralization and hypercalciuria with increased risk of fracture and kidney stones, elevated granulocytes, decreased lymphocytes, limitation in haematopoiesis leading to “space anemia”, inefficient gas exchange in respiration, and many more. In addition to these, there are other medical concerns such as radiation. The Earth’s geo-magnetic field and atmosphere protect those on the planet, but astronauts may suffer some additional exposure, providing the conditions for cellular DNA damage to occur, and consequently increasing the risk of certain cancers.

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Nowadays, society is eager to adventure to other planets, calling for long duration spaceflights. Another problem arises with this: if a medical emergency was to happen, how could we manage it? Would there be enough advanced life support resources to stabilize the victim? It is important to note that these trips may take several months or even years to complete, leaving astronauts isolated and with no additional provision.

Contrary to general beliefs, judgment isn’t always impaired in this kind of situations and although attention may be narrowed (the data is not conclusive), this doesn’t mean that decision-making will be compromised.

Thus, taking all these possibilities and dangers into account, one must question: to what extent is it ethically appropriate to send people to these expeditions? Is it a giant leap for mankind at the cost of a hazardous step of a crew? In order to deal with these issues, space medicine was established, being broadly defined as “the practice of all aspects of preventative medicine including screening, health care delivery, and maintaining human performance in the extreme environment of space and preserving the longterm health of space travelers”. With private spaceflight gaining more momentum, this medical specialty acquires even more relevance, for tourists are likely to be older and present increasing co-morbidities.

Exploring the space in a journey to the unknown is right now the pinnacle of human curiosity, and the opportunities are incessant. Although immensely fascinating, one should not be blinded by the endless frontier of the universe. The human body has its limits, and hence we should always look within before reaching out. •

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| Astronauts in a Space Shuttle

Nowadays, society is eager to adventure to other planets, calling for long duration spaceflights.

Another problem arises with this: if a medical emergency was to happen, how could we manage it?

References

Heer M, Paloski WH. Space motion sickness: incidence, etiology, and countermeasures. Auton Neurosci 2006; 129: 77-9 | D Hodkinson, R A Anderton, B N Posselt, K J Fong. An overview of space medicine. BJ Anaesth, Volume 119, Issue suppl_1, 1 December 2017, Pages i143-i153 | Pool SL, Davis JR. Space medicine roots: a historical perspective for the current direction. Aviat Space Environ Med 2007; 78; A3-4

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RARE PEOPLE WITH RARE NECESSITIES

by Inês Almeida Lourenço

R

aríssimas” (portuguese word for extremely rare) is a non-profit institution which aims to support, share experiences and defend the rights of people with rare diseases and their families. “We exist because there are rare people with rare necessities”, says their motto. Their assistance deeply improves the quality of life of those who suffer from these conditions.

STRIVING TO SURVIVE Recently, this institution has been the subject of several polemics concerning its funds, which depend entirely on private donations and governmental funding. The former president of “Raríssimas”, Paula Brito e Costa, was suspected of diverting the institution’s money to her own benefit, being accused of a breach of trust. These recent events have led to a decline in private donations, threatening the institutions’ viability and credibility, leaving many children and adults without the care they required.

possible for parents to find a physician capable of helping their child. A four-leaf clover is their symbol, representing these infrequent and hard to diagnose diseases.

“CASA DOS MARCOS” (MARCOS’ HOUSE) When Marco turned sixteen years old, no school or institution could offer him the care he needed. Still, he insisted that he did not want to stay at home. “I don’t have any school? So, make me one!” – he told his mother.

“Casa dos Marcos”, located in Moita, Setúbal, was unveiled in 2013, being the result of Marco’s dream, aiming to support people like him. Unfortunately, Marco died before seeing his dream come true.

Paula Brito e Costa first child, Marco, suffered from Cornelia de Lange Syndrome. At that time, there was not much information and care provided to those who suffered from rare conditions in Portugal. Therefore, determined to help her son, she flew to the United States, where she got the assistance her son needed.

This house, one-of-a-kind in the entire world, comprises an innovative response to the necessities of patients with rare pathologies, through a set of specialized services.

Together with sixteen other mothers, she decided to create a National Association for Mental and Rare Diseases in order to help patients struggling to get the information and care their lacked. Funded in 2002, “Raríssimas” has been responsible for conducting congresses, seminars, and research on rare diseases, as well as providing home support for patients and their relatives. Their first priority was to create a wide national doctor network, making it

This house, one-of-a-kind in the entire world, comprises an innovative response to the necessities of patients with rare pathologies, through a set of specialized services.

These include a Residential Home Unit, in which people suffering from disabling rare conditions can live, and an Autonomous Residence Unit, where they are prepared to live independently and taught the basic household chores.

HISTORY BEHIND ITS FOUNDATION

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| “Casa dos Marcos” (Marcos’ House)

It also includes a center for occupational activities, a continuing care unit and a research unit.

These patients do not deserve to be left unprotected and this unique institution should not end.

Additionally, this house is equipped with a special room, particularly dedicated to those who suffer from autism, though it can be beneficial for all patients. The Snoezelen room is a relaxing space that reduces agitation and anxiety through the use of gentle light, soothing sound, relaxing smell and touch. Furthermore, it has many visual and musical stimuli as well as refreshing smells and textures to explore. It can be used as a learning and developmental tool, encouraging communication and understanding of the surrounding environment.

STARING AT ITS FUTURE Sónia Margarida Laygue, the new president of “Raríssimas”, states that the institution’s condition is extremely serious.

With most of the donations being removed, it will no longer be possible to maintain its facilities, with the risk of leaving those who depend on them totally helpless. These patients do not deserve to be left unprotected and this unique institution should not end. Hopefully, it will recover, and these rare patients will continue to be helped and guided, inspiring their caretakers and showing us not only our limits, but also our achievements as human beings and as a society. •

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SPECIAL PHARMACOLOGICAL INVESTMENT IN RARE DISEASES

by Sofia Prada

I

n general, a rare disease, also known as an orphan disease, is any disease that affects a small percentage of the population. In Europe, it is defined as a disorder that affects less than 1 in 2000 citizens, according to the Orphan Drug Regulation. They may affect as much as 30 million European Union citizens. For the United States’ National Organization for Rare Disorder, a rare disease is a disorder that has a prevalence of 200000 or fewer cases, and about 30 million individuals in the United States are diagnosed with this type of disease.

There are between 6,000 and 8,000 rare diseases and there is no cure for most of them. 80% of rare diseases have identified genetic origins and the remaining result either of infections, allergies and environmental causes or are degenerative and proliferative. They are present throughout a person’s entire life, even if symptoms do not immediately appear. 75% affect children and 30% of rare disease patients die before the age of 5.

The main problems related to these diseases are the delay in diagnosis, the lack of scientific knowledge about the disease and of appropriate quality healthcare and iniquities and difficulties in access to treatment and care. Moreover, there is a huge negative impact in the patient’s life, with high level of pain and suffering. Rare diseases do not only influence the person diagnosed. They also affect families, friends, caretakers and society as a whole.

The medical products used for diagnosis, prevention or treatment of these diseases are called “orphan drugs” because under normal conditions the pharmaceutical industry has little interest in developing and marketing products intended only to treat a small number of patients.

The extremely high investment that is necessary to produce such products would not be recovered with the expected

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sales of the product, resulting in a financial loss. Therefore, governments and rare disease patient organizations, such as EURORDIS (European Organisation for Rare Diseases), advocate economic incentives to encourage drug companies to develop and market drugs for rare disease treatment.

There are between 6,000 and 8,000 rare diseases and there is no cure for most of them.

EURORDIS was instrumental in the development and adoption of the EU Regulation on Orphan Medicinal Products in 1999, which plays an important role in the orphan drug development process through its participation in the Committee for Orphan Medicinal Products (COMP) at the EMEA (European Medicines Agency). EURORDIS is financially independent from the pharmaceutical industry.

EURORDIES provides the following incentives: •

Fee waiver for orphan designation and reduced fees for marketing approval process, inspections, variations and protocol assistance;

•

Market exclusivity for 10 years after the granting of marketing authorization and 12 years if paediatric studies are performed;

•

Parallel EU-US submission of orphan drug designation applications to speed up development and access to new drugs based on a single dossier;

•

Orphan drugs have direct access to the EMEA centralized procedure for the application for marketing authorisation;

•

Pharmaceutical companies developing orphan drugs may be eligible for grants from EU and Member State programmes and initiatives

supporting research and development, including the Community framework programmes (EU Research Framework Programme 7); •

National incentives such as research grants and tax credits;

•

Scientific advice is provided to pharmaceutical companies by the EMEA (European Medicines Agency, based in London) to optimise drug clinical development therefore meeting European regulatory requirements;

•

Regular surveys assessing and comparing the real situation regarding availability of orphan drugs for patients in the various Member States;

•

Promotion of European common policy and criteria for orphan drug access.

Even so, only 20% of drugs submitted for orphan drug designation eventually make it through to marketing authorisation. When new drugs receive orphan designation, a Public Summary of the Orphan drug opinion (PSO) is produced, and the close collaboration between EURORDIS and EMEA ensures the quality and consistency of the information produced.

Even so, only 20% of drugs submitted for orphan drug designation eventually make it through to marketing authorisation.

In order to contain costs, some EU healthcare systems assess the cost-effectiveness of therapies when deciding if they should be funded. However, orphan drugs are invariably cost-ineffective, so factors other than cost-effectiveness

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ONE OF A KIND need to be considered if orphan drugs are to be provided by public health services. Health service funding of orphan drugs, which varies across the EU and within the UK, has led to geographical inequities in patients’ access to treatment.

There are a number of methodological issues that make it difficult to obtain good quality comparative effectiveness data for orphan drugs. First, although randomized controlled trials are the most robust study design for hypothesis testing, it is often not possible to recruit an adequate sample size to test treatments for rare diseases. In this way, it is important to recognize that differences in levels of evidence on clinical effectiveness for orphan drugs, versus drugs for more prevalent conditions, are to be expected.

Apart from that, given the small number of patients eligible for orphan drugs, the total cost impact on health services is limited, because the budgetary impact is low.

From another perspective, investing substantial amounts of resources for rare conditions may be considered unethical from an utilitarian point of view, as this does not maximize society’s benefits. Thus, given a constrained health budget, funding orphan drugs will displace other healthcare interventions. Decisions that favour orphan

drugs, therefore, imply that a patient with a more common condition, and who would benefit equally, is less worthy of receiving the treatment.

Ultra-orphan diseases which are of genetic origin are typically chronic, debilitating and associated with reduced life-expectancy. It is unclear whether they pose sufficient imminent threat to the life of patients to constitute a right to treatment. Furthermore, the right to a minimum standard of care would not necessarily favour rare conditions over more prevalent conditions. The ‘rule of rescue’ proposes a commitment of non-abandonment of individuals with needs for highly specialized treatments, even in resource constrained settings. It supports the notion that society places a greater value on health gains made by individuals if there are a small number of cases, the condition is severe and no alternative treatments are available.

When deciding to fund orphan drugs, it is important to take safety, efficacy and cost-effectiveness into account, but it is also important not to leave anyone untreated. There is no life worth less than other, each and every one of them is important enough for everything to be done to save them. •

References www.eurordis.org | Whicher D., Philbin S., Aronson N., An overview of the impact of rare disease characteristics on research methodology, Orphanet Journal of Rare Diseases 2018, 13:14 | Annemans L., Aymé S., Le Cam Y., Facey K., Gunther P., Nicod E. et al, Recommendations from the European Working Group for Value Assessment and Funding Processes in Rare Diseases (ORPH-VAL), Orphanet Journal of Rare Diseases 2017, 12:50 | Moliner A., Waligóra J., The European Union Policy in the Field of Rare Diseases, Public Health Genomics 2013;16:268–277 | Hughes D., Tunnage B., Yeo S., Drugs for exceptionally rare diseases: do they deserve special status for funding?, QJ Med 2005, 98, 829-836

| 80% of rare diseases have identified genetic origins

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THE RIGHT TO HEALTH

by Francisco Morais

C

ertainly, we all believe in a better, more understanding and inclusive world. No matter who you are or where you come from, every human being should be able to lead a healthy and productive life. The United Nations’ 2030 Sustainable Development Goals (SDGs) offer a crucial opportunity to address the social, economic and political determinants of health and improve the health as well as the wellbeing of all nations. “Health for All”, one of their mottos, should be the pillar of all efforts in achieving the SDGs. When every individual is healthy, the whole community takes advantage.

However, today’s reality is quite different from that which we envision. Many are being left behind, with no access to quality healthcare. Amongst those who are neglected, are millions of people struggling with rare diseases.

Rare diseases are undoubtedly one of the major obstacles that public health needs to manage, still they remain widely overlooked. This is precisely why there is an emergent need to discuss why and how rare diseases should be part of the global health agenda. Public health and research would benefit largely from globally concerted action and international collaboration. Better use of acquired knowledge and more resources are in great need, otherwise it won’t be possible to improve healthcare options for people living with rare diseases. International cooperation plays a huge role to encourage research and innovation and to increase access to diagnostics and treatments.

One of the SDGs goals is to “ensure healthy lives and promote well-being for all at all ages” which includes rare diseases, so why are we leaving them behind? Based on this principle “The Right to Health: The Rare Disease Perspective” was brought to life. An initiative organized by

the Rare Diseases International, a global alliance of people living with a rare disease of all nationalities across all rare diseases, in partnership with BLACKSWAN Foundation, a Swiss Foundation supporting research for rare and orphan diseases, and EURORDIS – Rare Diseases Europe, a non-governmental patient-driven alliance of patient organizations representing 792 rare disease organizations in 69 countries. Held to mark the occasion of Rare Disease Day 2017, the event took place in Geneva, February 10th 2017. A first-of-its-kind event brought together patients and international experts from fields such as public health, epidemiology, human rights, scientific research and health industry. The purpose was to discuss ways to diminish inequality and grant full access to health resources for the estimated 300 million people suffering from a rare disease all around the globe.

Anders Olauson, chair of the New York-based NGO (nongovernmental organization) Committee for Rare Diseases stated, “Politicians are scared to death about where the cost of health is taking them. (…) Politicians would say no to orphan drugs on the assumption that they are going to be very expensive, but they are not more expensive than other drugs, if you take the right perspective to it.”. This only goes to show the current state of mind, where politicians and big pharmaceutical companies only focus on improving the research related to profitable diseases, instead of distributing the incentives equally.

Hopefully, the event organized last year tears down some barriers in such a way that global health starts to develop in a direction where everybody’s needs are met. It is up to each one of us, as future health professionals, to give hope to those who are hopeless. •

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PHARMACOGENETICS: DOES ONE DOSE FIT ALL?

by Guilherme Vilhais

JASON’S CASE

J

ason is a ten-year-old kid with leukaemia followed at St Jude Children’s Research Hospital, Memphis, Tennessee. The chemotherapy regimen recommended for Jason’s condition includes a thiopurine, an antimetabolite widely used to treat acute lymphoblastic leukaemia. However, apart from his underlying condition, Jason also suffers from a genetic variation that affects 10% of all Caucasian individuals and that is responsible for reducing his ability to metabolize such drugs. This means that using a thiopurine on Jason would probably not work. The accumulation of toxic metabolites would make him experience a number of adverse events, requiring a break in the therapy that would allow the cancer to return.

Fortunately, his doctors knew he had such genetic variation since St Jude Children’s Research Hospital is pioneer in screening the incoming patients who agree with being part of a pharmacogenetics programme. The programme examines 230 genes involved in drug responses, 7 of which robustly predict reactions to 23 different drugs, while the data concerning the remaining genes are kept mainly for research purposes. This screening is used in a pre-emptive way, which means that at first admission the results are automatically registered in patient’s records, preventing delay on prescription and having to retest if a different drug needs to be prescribed. This approach may be more cost effective than the usual approach of only using pharmacogenetic tests after the patient has had issues with the medication.

Jason’s genetic variation concerns the TPMT gene, which codifies an enzyme responsible for metabolizing thiopurines and it is one of the most famous examples of pharmacogenetics application into clinical practice and

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the first to be identified. The results allow the physician to consider, like in Jason’s case, to use a lower dose of thiopurine so that the drug is tolerated without needing a break, therefore enhancing therapeutic success.

So why isn’t pharmacogenetics a part of our daily practice? The randomized controlled clinical trials that intended to support the benefit of pharmacogenetic interventions failed to do so.

THE HIGHER THE CLIMB, THE BIGGER THE FALL The idea that a person’s genes influence the way they respond to drugs came up in 1957, when a geneticist published an article claiming that the adverse reactions to the antimalarial primaquine and the muscle relaxant suxamethonium chloride are linked with heritable deficits in the activity of specific enzymes. The list of genes known to influence drug response increased over the following years and so did the expectations that pharmacogenetics would become a widespread reality. However, such expectations did not become true and pharmacogenetics has a limited role in clinical practice today. Apart from the association between TPMT and thiopurines, a notorious example is that of HLA-B and abacavir. Abacavir is an antiretroviral used in HIV patients, responsible for a 50% chance of a

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life-threatening hypersensitivity reaction in HLA-B carrying individuals. The screening for HLA-B in HIV patients is now considered standard care with the incidence of hypersensitivity having decreased markedly.

So why isn’t pharmacogenetics a part of our daily practice?

The randomized controlled clinical trials that intended to support the benefit of pharmacogenetic interventions failed to do so. The discovery rate of genes that influence drug response slowed down to three or four per year and it is now thought that such influence may be much lower than initially predicted. Nowadays, variations in about 20 genes are thought to be useful in predicting the response to approximately 100 drugs. These 100 drugs represent 7% of all the FDA approved and 18% of all prescribed drugs in the US. So the main question is: Are these numbers enough to justify a large scale application? Are they enough to guarantee that patient care will improve by the disseminated use of pharmacogenetics?

PROS, CONS AND FUTURE PERSPECTIVES Critics believe there’s not enough evidence and compare pharmacogenetics to the warfarin case, which failed to show benefit in drug adjustments based on genetic screening of CYP2C9 or VKORC1 polymorphisms. Enthusiasts counterpose that we should stop discussing it, given that observational studies have already proven enough, that it is unethical to deprive patients from these tests and that we are being more selective with genetic variations than we are with a degree of kidney failure that affects drug metabolism to the same extent.

Medicine is, by nature, conservative, and that such potential will hardly materialize into a paradigm change unless consistent data are presented.

Another important aspect is that if pharmacogenetics aims at becoming a widespread reality, a change in funding must happen. Screening programs need to start being funded by health-care providers instead of research grants. And to get the funding from health-care providers, there can be no doubt about the benefit. That is why the European Union has decided to spend almost 14 million euros on a large, randomized, clinical trial that will, once and for all, clarify the clinical outcome of pharmacogenetics-led prescription.

It is expected that the Ubiquitous Pharmacogenomics trial will report results in 2020 and we will be patiently waiting for them. After all, it defines the future of precision medicine, and if it is true that there is a huge potential in pharmacogenetics it is also true that medicine is, by nature, conservative, and that such potential will hardly materialize into a paradigm change unless consistent data are presented. •

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KEYNOTE

YESTERDAY’S NAVIGATORS, TOMORROW’S INVESTIGATORS

by Miguel Antunes

T

o figure out one’s place in the world, one’s drive and one’s passion is perhaps the hardest task an individual has to face in its lifetime. When you choose to become a doctor you have a rare opportunity to have a major impact on the lives of many individuals. This comes, however, with the considerable burden of an everlasting need of selfimprovement and a constant necessity of finding answers to rather impossible questions while facing harsh circumstances on a daily basis.

The challenge of finding impossible answers in harsh circumstances was met by Dr. Filipe de Sousa Cardoso with an ingenuity, inventiveness and relentlessness that has often characterized the Portuguese people and it is safe to say that the culture of a nation defines more of a person’s identity than one might figure at the first glance.

To figure out one’s place in the world, one’s drive and one’s passion is perhaps the hardest task an individual has to face in its lifetime.

Perhaps, when one talks about cuisine you might think of France, when one talks about efficacy you might think of Germany, or when someone talks about Philosophy you might think of Greece.

This doesn’t necessarily mean that every Greek is an outstanding philosopher, every German is particularly efficient, or every French would be a brilliant cook, but there are certain achievements and certain landmarks in a nation’s

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| The Monument to the Discoveries evokes the Portuguese overseas expansion

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history that are the product of the character of its people, and that build a certain culture that will inevitably shape the generations to come.

I would like give you an insight about our culture.

Portugal is a seaside nation commonly mistaken for being a part of Spain and lately known for its poor financial status.

We have recently been promoted to Europe’s most trending travel destination, an achievement that would certainly fill our forefathers with pride, together with the fact that at this point in time we are the best in the world at any sport that involves a foot kicking a round shaped object.

Portuguese are still made of this madness, this drive and this boldness.

There was a time, however, when we were one of the greatest empires this world has ever seen, and more than the power, the wealth or the recognition, I would like to drive your attention to the people who built it.

When you can find a group of men that voluntarily enter a small wooden boat to venture into the absolute unknown in order to find lands whose existence was uncertain in a time when electricity was undreamable, they either have to be extremely valiant or absolutely out of their minds.

Be it as it may, they have, in fact, with resources that were next to nothing and in a time where the odds were heavily stacked against them, discovered the world as we know it, and this comes to show their value, a value that has been passed on up until the present time.

Portuguese are still made of this madness, this drive and this boldness that is embedded in our own self, and rather inseparable from our own being but only shown by the ones that have the courage, the focus and the spirit of sacrifice that makes it become evident, people like Dr. Filipe.

He has with no funding or support from any pharmaceutical company and recurring to his inventiveness, lead a

| Dr. Filipe de Sousa Cardoso, Keynote Speaker multicentric international trial that ended up with a novel treatment scheme that will allow patients awaiting a Liver Transplant to gain additional time without entering into organ failure, which dramatically increases their possibilities of ending up with a new chance in life.

This work was developed amidst an intensive care unit, in between all the work a normal intensivist or surgeon is responsible for, without dedicated time, without any monetary compensation. This is an example that stands out from the ordinary, but is among others produced by outstanding individuals that truly transcend themselves to assist others.

They have had the audacity to transform their stethoscopes and microscopes into our forefathers boats and charts and to become a beacon of hope for a society that is counting on their relentlessness and ingenuity to make this world a better place.

Empires, revolutions and major breakthroughs in science all have a common denominator: people. People that could be me, you, or anyone who has dared to be more than what was expected from them. Therefore I invite you to be a little Portuguese, and to take it upon yourself to be the change you want to see in the world. •

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THE FUTURE IS NOW

MEDICAL EDUCATION IN THE NEW TECHNOLOGICAL WORLD

by Bárbara Rodrigues

I

f the Earth was only 24 hours old, modern humans would be around for just one second. In that one second, however, we have been able to achieve a lot and it is very easy to see that our knowledge and discoveries have undergone incredible changes throughout the years. There are a lot of factors and variables which have contributed to these changes but technology seems to play a very important role nowadays. When we think about technology, we immediately think about the devices that we use everyday like our mobile phones or personal computers. However, technology is much more than that, and it’s becoming a very important extent of different areas - in which medical education is no exception. But how can technological devices improve medical education and lead us to a better professional future in the medical field? From computer assisted learning, A.I. (artificial intelligence), wearable technologies, simulation or even virtual reality - the possibilities are endless. Exploring these new age technologies allow us to acquire a more clear perspective on this revolutionary social and digital phenomena.

However, technology is much more than that, and it’s becoming a very important extent of different areas - in which medical education is no exception.

Starting with Computer-assisted learning, there are several examples of how it can be helpful and relevant in medical education. One example that stands out from the

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rest, and that has been adopted by top medical colleges, is the “Flipped Classroom”. The name says it all, but the “Flipped classroom” reverses the traditional learning method – instead of learning about a certain subject during a lecture session, the students learn about it by watching an online lecture first at home and then the classroom is seen as an opportunity to solve problems and to discuss different subjects with the teacher. Don’t you think this would be a very appealing and interactive way of learning Medicine? Well, the studies agree. Despite the challenges of randomized trials in the education field, the results show a better student involvement and satisfaction when this innovative method is applied.

“Flipped classroom” reverses the traditional learning method.

A lot of us, as medical students, would agree that our passion for medicine starts way before our college application.

Among the different reasons that justify our choice, there is one that is often referred as the main motivation: we want to help others. This means we recognize, from a very early age, that the main focus of Medicine has to be the well being of the patient. Therefore, we cannot learn without practicing. Applying experiential methods to the patients, however, implies legal and ethical issues and this is why a simulation becomes so important. Imagine you need to carry-out a procedure like placing a breathing tube but, due to a lack of experience and training, you could become potentially more dangerous to the patient. Having a patient simulator allows you not only to practice that procedure and use of tools, but also replicates important physiological

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parameters, giving you a powerful experience that is very close to real clinical situations. There is no doubt simulation is an innovative and interactive tool. It also consists of a wide spectrum of options, from simple models of body parts to high fidelity simulators capable of replicating the essential features of a real patient.

We’re responsible to assure that these changes lead to progression and innovative advancements to save lives and help people.

Google glass, an innovative wearable device released in 2013, is a very interesting creation in the field of “augmented reality”. But, did you know it can be very helpful and useful in the medical education field? With teachers, students or even the patients wearing the glasses - the medical appointment can be recorded and students can review the most relevant moments of the encounter with the aim of improving communication skills or the execution of a procedure. Virtual reality is another revolutionizing technology. The student wears glasses similar to those

used in video games and becomes rapidly involved in a virtual world. Once more, the possibilities are endless.

For instance, when learning about a heart’s anatomy, this technology allows the student to “go inside” the heart and have a better 3D-Virtual understanding of its in-depth features and functionings.

George Bernard Shaw once said that, “Progress is impossible without change and those who cannot change their minds cannot change anything”. There is no doubt that medical education is going through a period of important changes, not only because of technology, but also because new teaching and learning methods that are arising. We are lucky enough to be part of this rapidly changing period, but, as future doctors and teachers, we also have a very important responsibility – We’re responsible to assure that these changes lead to progression and innovative advancements to save lives and help people. • References Guze, Phyllis A. “Using Technology to Meet the Challenges

of Medical Education.” Transactions of the American Clinical and Climatological Association 126 (2015): 260–270. Print. | Datta, Rashmi, KK Upadhyay, and CN Jaideep. “Simulation and Its Role in Medical Education.” Medical Journal, Armed Forces India 68.2 (2012): 167–172. PMC. Web. 24 Feb. 2018. | https://www.forbes.com/sites/johnnosta/2013/06/27/ google-glass-teach-me-medicine-how-glass-is-helping-change-medicaleducation/#114a183429db | https://er.educause.edu/blogs/2017/8/vr-andar-driving-a-revolution-in-medical- education-and-patient-care

| Simulation applied to medical teaching

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THE FUTURE IS NOW

mHEALTH - A WORLD IN EXPANSION

by José Durão

T

he world is changing at an ever increasing rate and the era of technology is upon us, bright as the light of day.

According to the International Telecommunication Union, a whopping 4.3 billion mobile phone subscriptions would be reached by the end of 2017 and approximately 85% of the globe is currently covered by a commercial wireless signal. As the famed global village becomes more and more tangible, the exponential sophistication and perfectness of these networks offer users increasingly faster rates of data transmission, encapsulated in more powerful, yet more economical, devices.

It’s not just about the way we communicate anymore but actually how we put to use the overwhelming surge of technology we’ve developed, in areas where darkness and unknown were the norm. Healthcare is one of those fields and we certainly have come a long way since medieval times.

Oily guts and rusty knives sterilised by fire have given place to gadgets that combine increased accessibility to medical records, analytical parameters, exam results, prescription schedules, and so on. All of these have come together to create mHealth.

This term, coined in 2003 by Robert Istepanian, is short for “mobile health”, the product of medical practice and health services that rely on the use of mobile devices. In 2010, at the mHealth Summit of the Foundation for the National Institutes of Health, the field was described as “the delivery of healthcare services via mobile communication devices”.

Nowadays, mHealth is spreading through the general public by presenting itself in friendly, downloadable applications, or apps, that virtually anyone can use on their smartphones.

Broadly, mHealth apps can be divided into three vast

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categories. Firstly, there are the so-called ‘three M apps’, designed to help people manage, monitor and modify their habits in terms of exercise, diet, sleep and stress level. These make up the majority of mHealth apps and include sleep trackers, calorie counters, chronic disease diaries, allergy alerts and many more, with apps going as far as connecting with portable sensors such as the Fitbit wristband or the Apple Watch. There are now artificial intelligence systems that allow companies to produce insulin pumps and glucose monitors that can predict dips and spikes up to three hours before they happen, by cross-referencing the person’s clinical data with diet information and activity trackers.

Micromedex provides simple, yet instructive, information on any drug; MyChart grants access to one’s medical records at any time; Red Cross First Aid gives step-by-step instructions on how to proceed in the face of an accident; WebMD and iTriage compile medical information scattered online and offer precise intel on symptoms and treatments; ZocDoc allows users to book consultations; and many, many more.

Secondly, we have the ‘telemedicine apps’, through which users can talk directly to doctors and therapists, like Teladoc, DoctorOnDemand, HealthTap and Pingmd. The next goal in this field is telemedicine with no doctor at all on the other side, but solely a combination of bots and AI to monitor, diagnose and talk to patients.

And finally, we have the ‘administration apps’, which, fittingly, help medical personnel in managing admissions, discharges and every technical detail in between. What is more, these type of apps make use of the cloud and its hosting abilities to store, access and manage all of this data.

While looking for the ideal mHealth app, one can feel

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drowned in an impossible abundance of alternatives, some of them with overlapping capabilities. One of the most paradigmatic examples of the expansion of mHealth is Figure 1, an Instagram-like app for medical staff where one can share photos or exams of real patients (their identity being at all times protected) and leave comments on what the diagnosis may be or how should one proceed. It is an incredibly educational tool and digital environment, accessible by doctors, teachers and students alike. Other image-based apps include VisualDx Mobile, that shows the variation of disease presentation through age, stage and skin type, and iRadiology, a learning tool targeted at medical students and residents.

Both JAMA Network Medical Image Challenge and NEJM Image Challenge possess a wide range of questions designed to train on spot diagnosis, while perfecting theoretical knowledge; Medscape and UpToDate have established themselves as two of the most complete, comprehensive and easy to navigate databases for medical professionals, much like an encyclopedia; if one is looking for guidelines on drugs, diagnostic and laboratory tests, and their correlation to an array of diseases, then Epocrates is one of the most potent apps on the market. Some of these apps are more specific, like PEPID, which provides clinical decision support and reference tools on emergency room situations, being useful to physicians, nurses, students, pharmacists and paramedics.

In terms of accessing and receiving updates on the medical field, with Docphin the user can choose his or her area of interest and the app will filter through articles and news from journals, tweets and media agencies, presenting the results by order of relevance; Unbound Medicine uCentral brings together popular medical publications; Case allows easy reading of medical journal articles on a smartphone and subscription to a specialty or set of journals.

In 2011, the FDA approved, for the first time in History, one app as a diagnostic tool: MobiSante has been useful in the field of portable ultrasound imaging. Touch Surgery permits surgical simulation on your smartphone, from breast reconstruction to carotid endarterectomy, and even in the world of medical investigation, Apple launched ResearchKit,

which operates in collaboration with the existing platform HealthKit, and together allow for users with a specific condition to participate in surveys and simple tasks entirely on their smartphone, thus providing valuable information to ongoing studies.

The list goes on and on and every day new apps show up in the market or updates are designedto makeexisting apps even more powerful, creating digital tools with the diagnostic potential to be increasingly decisive in medical situations. According to estimates from Zion Market Research, the market for mHealth will reach 102.43 billion dollar globally this year, a reflex of the unprecedented spread of mobile technologies across the planet and the exponential possibility of personalized and citizen-focused medical care that come with it. mHealth technology is now able to help in monitoring and diagnosing diseases in remote locations, presenting itself as an opportunity to address constant difficulties and rising costs in accessing health care services. It is expectable that progress will take these technologies towards a reality of medical care in realtime from anywhere in the globe, a futuristic Earth where access to healthcare is just as simple, automatic and natural as breathing. • References

https://www.itu.int/en/ITU-D/Statistics/Documents/ facts/ICTFactsFigures2017.pdf | https://www.wiley.com/en-us/ m+Health%3A+Fundamentals+and+Applications-p-9781118496985 | https://blog.capterra.com/mhealth-technology-companies/ | http:// caroltorgan.com/mhealth-summit/ | https://www.digitaltrends.com/ mobile/best-medical-apps/ | https://blog.capterra.com/everything-needknow-mobile-health-apps/ | https://blog.capterra.com/top-7-medicalapps-for-doctors/ | http://www.mobihealthnews.com/10745/top-fivemedical-apps-at-harvard-medical-school | https://www.imedicalapps. com/2014/12/jama-launches-free-medical-image-quiz-app/ | https://www. imedicalapps.com/2012/12/nejm-image-challenge-app-review/ | http:// www.mobihealthnews.com/content/healthtap-quietly-acquires-physicianapp-startup-docphin | http://www.mobihealthnews.com/10165/fdaapproves-mobisantes-smartphone-ultrasound | https://www.imedicalapps. com/2013/01/touch-surgery-app-surgeons-operations-virtual-patients/ | https://www.theverge.com/2017/3/13/14908402/apple-researchkit-healthasthma-study-app-data-smartphone | https://globenewswire.com/newsrelease/2017/11/15/1193431/0/en/mHealth-Market-Size-Projected-to-ReachUSD-102-43-Billion-by-2022-Zion-Market-Research.html | http://www.who. int/goe/publications/goe_mhealth_web.pdf

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THE FUTURE IS NOW

ARTIFICIAL INTELLIGENCE: AUGMENTING OR REPLACING DOCTORS?

by Diogo Rosa Ferreira

O

ne of the most distinctive features of the enthusiasts that accept the challenge of becoming medical doctors is the strive of acquiring and producing knowledge. However, nowadays, we have definitely lost that exclusivity. Machines taught and developed by humans are able to generate, process and interpret information in a way that surpasses our capacity for assimilation. Computer systems are managing to learn with data without being explicitly programmed. The Artificial Intelligence Era is arising.

There are several key opinion leaders who believe that we are experiencing the Fourth Industrial Revolution, which is characterized by a range of new technologies that are fusing the physical, digital and biological worlds, impacting all disciplines, economies and industries. Healthcare is no exception! So how is Artificial Intelligence overspreading into clinical practice?

Machine learning has several useful potential applications in helping shape and direct clinical trial research.

Intelligent computer systems are already being used to analyze radiology images to spot and detect problems faster and more reliably. Anatomical Pathology is another area in which Artificial intelligence is sneaking by systematically identifying morphological features in the tissue, that have been largely ignored so far, or could not have been detected by simple pathological insights.

A group of Stanford computer scientists and medical experts

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published an article in Nature last year that showed that their Artificial Intelligence system matched dermatologists in its ability to distinguish both melanomas from benign naevi and keratinocyte carcinomas from benign keratoses.

Artificial Intelligence will not replace medical professionals. Yet, the physicians who take advantage of Artificial Intelligence will replace those who don’t.

Artificial Intelligence technologies are also being applied to monitoring and predicting epidemic outbreaks around the world, based on data collected from satellites, historical information on the web, real-time social media updates, and many other sources. Support vector machines and artificial neural networks have been used, for example, to predict malaria outbreaks, taking into account data such as temperature, average monthly rainfall, total number of positive cases, and other data points.

Machine learning has several useful potential applications in helping shape and direct clinical trial research. Applying advanced predictive analytics in identifying candidates for clinical trials could draw on a much wider range of data than at present, including social media and doctor visits, for example, as well as genetic information when looking to target specific populations; this would result in smaller, quicker, and less expensive trials overall.

| Will robots ever replace doctors?

(Exemple of robot-assisted surgery) Also, IBM Watson launched its special program for oncologists which is able to provide clinicians evidencebased treatment options. Watson for Oncology has an advanced ability to analyze the meaning and context of structured and unstructured data in clinical notes and reports that may be critical to selecting a treatment pathway.

Bearing in mind all of these technological breakthroughs, it is easy to hypothesize and fear that Artificial Intelligence will eventually replace medical professionals, but this is possibly a biased way to address this phenomenon. Instead of replacing doctors, Artificial Intelligence will probably augment them and make them more proficient. Medicine must always bring together the best and brightest of the resources at our disposal to help the ones in need.

In conclusion, one could argue that Artificial Intelligence will not replace medical professionals. Yet, the physicians who take advantage of Artificial Intelligence will replace those who don’t. •

References

Wolf M, Krause J, Carney PA, Bogart A, Kurvers RHJM (2015) Collective Intelligence Meets Medical Decision-Making: The Collective Outperforms the Best Radiologist. PLoS ONE 10(8): e0134269. doi:10.1371/journal.pone.0134269 | Sharma G.,Carter A. 2017. Artificial Intelligence and the Pathologist: Future Frenemies?. Archives of Pathology & Laboratory Medicine: May 2017, Vol. 141, No. 5, pp. 622-623. | Esteva. A, Kuprel B., et al. 2017. Dermatologist-level classification of skin cancer with deep neural networks. Nature volume 542, pages 115–118

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THE FUTURE IS NOW

DR ANTHONY ATALA AND THE PROMISE OF REGENERATIVE MEDICINE

by Francisco Baptista

J

oseph Murray and J. Hartwell Harrison performed the very first organ transplant in 1954, a kidney transplant between identical twins, because no immunosuppression was necessary. Innumerable advances have happened since then, but still arduous challenges arise in terms of limited donor supply and severe immune complications. In fact, every 30 seconds a patient dies from a disease that could be treated with organ or tissue replacement. Given our aging population, how can we bypass this problem?

This is where Regenerative Medicine enters the scene, as an interdisciplinary field that applies engineering and life science to promote regeneration of diseased and injured tissues and organs.

The simple question of how we could spontaneously regenerate ourselves starts to arise in our mind. Actually, we are not debating science fiction, since there are several examples in nature, like salamanders, that can regenerate organs and limbs, in a period of just a couple of weeks.

Humans are not an exception. In fact, we are constantly regenerating, although we possess limited capacity in comparison with lower vertebrates. For example, our skin turns over every two weeks, our bones every ten years and our brain cells every twenty years.

Regenerative Medicine brings together several fields, like the area of using cells alone, using cells and materials together, or using enabling technologies, like 3D Bioprinting.

In this field, it is undeniable the work of Dr Anthony Atala, our guest speaker we are honoured to receive in the Innovation and Technology module in the 9th edition of AIMS Meeting.

On one hand, the delivery of therapeutic cells that directly

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contribute to the structure and function of new tissues is a principle paradigm of regenerative medicine. For example, there is a clinical trial ongoing, supervised by Dr Anthony Atala, about skin cells sprayed on burn areas. After a small piece of skin is taken from the patient, the cells are processed and expanded, right there in the operating room, and sprayed into the patient’s wound.

On the other hand, biomaterials are often an important component for the regeneration of defects in the body.

For example, the regeneration of a ruptured urethra after a motor vehicle accident was already accomplished, using tubular biomaterials as a biodegradable scaffold for the double coating of the new urethra.

Then, the next-level of complexity is hollow non-tubular organs, like the bladder or the stomach. In 2006, Dr Anthony Atala lead the team that engineered the first lab-grown organ, a bladder, to be implanted into a human.

Nowadays, Luke M, the boy who received the transplant due to a congenital bladder malformation, doesn’t have the need for life-time dialyses, having the life quality he had always wished.

The last level of complexity corresponds to the solid organs, such as the heart or the liver, the only type of lab-grown organs that haven’t yet been implanted in patients.

After all these breakthroughs, the question of how can we pass from individually generated organs to the bigger scale arises. 3D Bioprinting technology promises to give the scalability, reproducibility and precision needed for the future. In fact, in Wake Forest Institute for Regenerative Medicine, Dr Atala’s team is developing a printer that goes right into the patient’s bedside. In this cutting-edge technology, the printer first scans the wound and then

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| Dr Anthony Atala prints directly on the wounded area, where the cells are needed, with incredible results.

Regenerative medicine has the potential to heal or replace tissues and organs damaged by age, disease, or trauma, as well as to normalize congenital defects. As opposed

to transplantation, the application of these innovative technologies offers novel therapies for patients, with better life quality and less comorbidities. Although reserved to the future, the possibilities are endless, with new discoveries every day promising to revolutionize the way we treat patients. •

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AIMS GIVING

by João Francisco dos Santos

E

very day we change the world, but to change the world in a way that means something to others takes much more time than most people have. Our society is living in a vicious cycle, where we only care about ourselves and our stressful lives. We live hypnotized and we keep on forgetting the true human essence – that we need each other. So, as Martin Luther King said “Life’s most persistent and urgent question is ‘What are you doing for others?’”.

As students, we are aware that we must be very grateful for the opportunity to pursue studying and achieve the job we have always dreamed about. Though, besides our lives and our dreams, there are people whose dreams cannot be pursued because they do not have all the possibilities and luck that we have had. This is why a new side has emerged within our project – AIMS Giving. Two amazing Portuguese comic entertainers Salvador Martinha and Carlos Coutinho Vilhena joined us in an Stand Up Comedy event, where all the profits revert to Capiti.

Salvador Martinha and Carlos Coutinho create a satire around daily activities which people often tend to fail performing. With this type of humor, people laugh about their own mistakes and forget about their problems for a while. Nowadays, the alliance between comic entertainers and fundraising to help people in need is growing. So, we decided to give life to this project, which brings together the laugh and the feeling of helping others.

Capiti is an association which believes that early and appropriate action contributes to a healthier development of the child, helping children combating school failure and, later, enabling a better integration in the labor market and in society. It also provides services for the early identification, access to an intervention and diagnosis throughout

childhood and adolescence by regular consultations in the area of child ​​ development, once children and young people belonging to needy families will hardly have access to the necessary treatment, since the support of the National Health System and the Ministry of Education do not cover their needs.

Capiti is an association which believes that early and appropriate action contributes to a healthier development of the child,helping children combating school failure and, later, enabling a better integration in the labor market and in society.

As Malala declaimed “We cannot all succeed when half of us are held back”, with this initiative we want to get closer to what we can call the ideal world, where everyone has equal opportunities. Although we know that it is an utopic idea, thanks to this event, the AIMS Community is able to give this children the opportunity to pursue their dreams and to have a more smiling future. •

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