Euthanasia = dignified death = sedation = palliative care = no pain??

30 04 2015

The answer to the title question is NO, in all cases.

The purpose of this post is to help those who have interest in clarifying the meaning of each of these terms. To do this I will use mainly texts of the Declaration on euthanasia of the Spanish society for palliative care (2002).

Human dignity. It's a concept that is used in two different and opposing ways. Dignity is a starting point following the recognition that we have a human being. In the second mode the dignity is a point of arrival after confirming that that human being has some features such as quality of life, awareness, etc.

Dying with dignity. According to the first concept of dignity is to be treated in accordance with the dignity of the human person, until the death. O, in the second case, consider that dignity is lost, When life has no preset standard quality, or you won't have consciousness indefinitely.

Palliative care. Approach that seeks to improve the quality of life of patients and families facing the problems associated with life threatening illnesses. It seeks the prevention and relief of suffering by means of the identification, evaluation and treatment of pain and other problems, physical, psychological and spiritual (WHO).

Palliative care and dignified death. In the field of thought convictions must always be respected. However, the philosophy of palliative care cannot be neutral when it comes to define the dignity of the human being in relation to the quality of life. We advocate the consideration of the dignity of the patient in terminal situation like a value independent of the deterioration of their quality of life. In colloquial terms when one speaks about unworthy living conditions, those who are unworthy are conditions or behaviors of people who allow them, but not the life of the sick.

Sedation in agony. Use of pain relievers or sedatives in the dosage for the relief of symptoms (including pain tends to have a leading role.) that they cause suffering and impair the quality of life of the patient Terminal, Although it could indirectly cause an advancement of the death.

Euthanasia. The term euthanasia in its etymological sense (good death) He has practically stopped having social use. We understand that the current meaning of the term euthanasia refers to the conduct (action or omission) intentionally aimed at ending the life of a person who has a severe and irreversible disease, for humane reasons and in a medical context. When you talk about a law of euthanasia it is talking about a law according to which there would be no legal impediment, under certain conditions, for this practice within the practice of medicine, contrary to what has been his traditional ethics.

Medical stubbornness (brutality or cruelty). We understand by obstinacy, cruelty or futile life support medical those medical diagnostic or therapeutic claims that do not really benefit the sick and cause him unnecessary suffering with practical, usually in the absence of adequate information. We are faced with a behavior that always has been considered and is it still considered as contrary to professional ethics.

Waiver of treatments. The person with a serious illness, probably irreversible or very difficult to cure, You can opt for treatments deemed in their midst provided, and may reject responsibly means exceptional, disproportionate or alternative therapies with dubious chances of success. This attitude of the patient must be respected and not be confused with a suicidal behavior.

Palliative care and euthanasia? In the field of thought convictions must always be respected. However, the philosophy of palliative care cannot be neutral when it comes to define the dignity of the human being in relation to the quality of life. This is why we support the consideration of the dignity of the patient in terminal situation like a value independent of the deterioration of their quality of life. Otherwise, We would be depriving dignity and value to people who suffer from severe limitations or severe psychophysical suffering, and that precisely therefore require special attention and care. In colloquial terms when one speaks about unworthy living conditions, those who are unworthy are conditions or behaviors of people who allow them, but not the life of the sick. Is in this current of thought solidarity, putting medical science at the service of patients who have no cure, where it takes its root and the philosophical tradition of palliative care develops. In other words, It is giving technical and human care requiring terminal patients, with the best possible quality and seeking professional excellence, precisely because they have dignity.

The key question: Is it help to die, or help when a person is dying?

 

 

Information about Bioethics Blog:

Objective: Provide the information and dialogue about bioethical issues.

Approach: It is possible to advance in the knowledge of ethical truth, and for this purpose it is necessary to study and dialogue.

All life is respectable, but human life has dignity.

It is necessary to participate in the social debate, exposing the own arguments and hear those of others.

http://www.bioeticaweb.com/que-es-bioeticaweb/

 

 

Bioeticablog.com [en línea] unknown (ESP): bioeticablog.com, 30 April of 2015 [REF. 20 November of 2010] Available on Internet:http://¿eutanasia-muerte-digna-sedacion-cuidados-paliativos-sin-dolor/ www.bioeticablog.com/



“Shock Medicine”: The “Inflammatory Reflex”

27 04 2015

We are all familiar with the normal reflexes that are triggered when we are struck with a mallet in just the right spot, touch a hot stove, or flinch at an unexpected noise. What most of us don't realize is that many reflexes are occurring beyond our perception. One of the most important reflexes is our body's natural response to infection or injury. When a signal travels the neural pathways between the organs and the brain, it can sometimes result in what Dr. Kevin Tracey has dubbed the "inflammatory reflex".

Our growing understanding of this critical "reflex" is pioneering a revolutionary new therapeutic strategy called bioelectronic medicine, which unlike treatments with pills and injections, takes advantage of the body's natural control mechanisms to treat inflammation and other diseases. Dr. Tracey, a brain surgeon, has devoted his career to researching molecules that cause inflammation; in the 1980 's, he was part of the team that discovered the critical role of tumor necrosis factor (TNF) in infection and sepsis.

The immune system normally protects the body against infection and injury, and the inflammatory reflex is a biological mechanism that regulates the immune response. Failure of this protective mechanism can lead to diseases such as areheumatoid arthritis and lupus, which are caused by an overactive immune response. Tracey's research on TNF unexpectedly led to the discovery that the nervous system plays a key role in regulating the immune response. He showed that injecting a small amount of a drug that inhibits TNF into the brain actually blocked production of TNF throughout the body. He determined this effect was dependent on the vagus nerve, which transmits nerve impulses to and from several organs and the brain.

Dr. Tracey has developed an electrical device that stimulates the vagus nerve and prevents production of TNF by a type of immune cell called a macrophage, effectively inhibiting inflammation. Use of this device has dramatically improved symptoms in patients with rheumatoid arthritis. Studies in numerous other diseases are underway, and there are many additional potential applications.

 

Read more about Dr. Tracey's discoveries, and his vision for the future of medicine in Scientific American.

 

 

Feinsteininstitute.org [en línea] Manhasset, NY (USA): feinsteininstitute.org, 27 April of 2015 [REF. 18 de febrero de 2015] Available on Internet:http://www.feinsteininstitute.org/programs-researchers/featured-programs/bioelectronic-medicine/tapping-reflexes-treat-disease/



Virus a possible cause of type 1 Diabetes

23 04 2015

Researchers have found a virus in the pancreas of patients with type 1 Diabetes. The discovery may offer the potential for both treatment and a vaccine.

 

The dark patches are viral components in the insulin-producing cells in the islets of Langerhans. Photo: Divid.

Type 1 diabetes affects children and adolescents. The pancreas stops producing insulin. High blood glucose levels can lead to serious complications such as heart attack, stroke, vision loss, kidney failure and foot amputation.

Daily treatment involving multiple finger-prick blood tests to monitor glucose levels, four to six insulin injections or the use of an insulin pump, all put a great strain on the patient.

Unlike type 2 Diabetes, it is not possible to regulate this form of diabetes by exercise or changes in diet. Only 29 per cent of patients achieve the recommended treatment goals that prevent complications.

For many years it has been suspected that a virus is a possible cause of type 1 Diabetes. A new study has found a virus present in the pancreas of individuals who have recently been diagnosed with this type of diabetes.

The study was headed by Professor Knut Dahl-Jørgensen at the Faculty of Medicine, Uio, in collaboration with Lars Krogvold, research fellow at UiO and consultant paediatrician at Oslo University Hospital.

 

Professor Knut Dahl-Jørgensen at the University of Oslo heads the research group which is behind the discovery of a virus in the pancreas. Photo: Uio.

Common virus in an uncommon place

The researchers identified viral components in the insulin-producing cells in the islets of Langerhans.

The islets of Langerhans are hormone-producing groups of cells in the pancreas.

The virus that has been detected is in the group of enteroviruses.

Professor Dahl-Jørgensen explains:

"This is a type of virus that occurs frequently among the population. It can cause colds and stomach bugs but also serious infections in the brain and heart, for example ".

Enterovirus is normally found in the intestines and respiratory tract. In individuals with a genetic predisposition the virus has the ability to cause chronic infections.

"It is this type of infection that we have now identified in the insulin-producing cells in the pancreas", says Dahl-Jørgensen.

 

Lars Krogvold, consultant paediatrician at OUS and research fellow at UiO. Photo: Private.

Vaccine and treatment

The next step will be to try to develop a vaccine.

The work will be done in an EU project in collaboration with two pharmaceutical companies which specialize in developing vaccines. The project will be headed by collaborative partners in Finland.

Lars Krogvold explains, "Producing new vaccines is a very slow business and extremely expensive. We have to make sure the vaccine is both safe and effective for patients and that adverse effects are minimized ".

The process usually takes more than five years, Krogvold adds.

New drugs to treat viral infections are constantly being developed. The hope is to start a project based on patients with newly diagnosed diabetes.

If those plans are realized, as early as next year patients could be participating in a clinical trial to test a combination of a new drug and a well-known drug.

"Our hope is that this can stop the destruction of the insulin-producing cells, and preserve the body's residual insulin production capability. That will lessen the seriousness of the disease.

Insulin-producing cells have the ability to regenerate, so if we are very lucky some patients may be able to stop insulin therapy completely”, says Krogvold.

 

New research based on existing theory

An increase in the number of cases of type 1 diabetes was discovered in Norway after a viral epidemic. The number of new cases of type 1 diabetes is highest in the autumn and winter, when we have most virus infections.

Some years ago, researchers found a virus in the pancreas of a child who died of diabetes. Since then, signs of the virus have been identified in the blood of diabetes patients with greater frequency than in healthy individuals.

 

Earlier lack of evidence

"A virus consists of genetic material surrounded by a protein shell or capsid. We have detected specific proteins from the capsid by immunostaining tissue samples using special antibodies aimed at these proteins. Most importantly, we have also found the genetic material RNA, which is exclusively specific for this type of virus. In addition, changes have been found in genes that are involved in fighting viruses ", says Krogvold.

"" Hitherto there were only indirect indications that a virus could trigger type 1 Diabetes. We had no evidence to show that the virus is actually in the insulin-producing cells. To be able to say with certainty that diabetes is caused by a virus, the virus must be identified in the morbid cells, which is what we have done. We also have to show that antiviral treatment or vaccines help to remove it. ".

"If this is possible, we may be able to stop the process at an early stage and prevent the disease having such a serious progression, or preferably prevent it from arising in the first place ", says Dahl-Jørgensen in conclusion.

 

Reference

Lars Krogvold, et al. Detection of a low-grade enteroviral infection in the islets of Langerhans of living patients newly diagnosed with type 1 Diabetes. American Diabetes Association, November 2014.

By Thomas Olafsen, information officer at UiO.

Published Dec 5, 2014 01:51 PM – Last modified Mar 23, 2015 12:58 PM

 

 

Med.uio.no [en línea] Oslo (NOR): med.uio.no, 23 April of 2015 [REF. 05 in December of 2014] Available on Internet:http://www.med.uio.no/klinmed/english/research/news-and-events/news/2014/virus-possible-cause-of-type-1-diabetes.html

 



New synthetic technology for medicines and fine chemicals

20 04 2015

Direct continuous synthesis of medicines becomes possible

 

Sequential addition of starting materials enables continuous production of the final compound, rolipram. Credit: Shu Kobayashi
Read more at: http://phys.org/news/2015-04-synthetic-technology-medicines-fine-chemicals.html#jcp

A University of Tokyo research group has succeeded in synthesizing (R)- and (S)-rolipram, the active component of a medicine, in high yield with high selectivity by an innovative catalyzed flow fine synthesis instead of the traditional batch method used in the production of 99% of medicines.

Professor Shu Kobayashi group at the Graduate School of Science has developed highly active immobilized catalysts (heterogeneous catalysts) and demonstrated simple and highly efficient synthesis of (R)- and (S)-rolipram by an eight-step continuous flow reaction using multiple column reactors containing the immobilized catalysts.

Currently, the active components of medicines as well as other fine chemicals are synthesized by a repeated batch reaction method, in which all starting materials are mixed in reaction vessels and the desired compounds are extracted after the all reactions have finished. In this method excess energy and operational steps are needed and a significant amount of waste is generated.

Professor Kobayashi application of flow chemistry techniques to the production of fine chemicals using heterogeneous catalysts has resulted in simple method to synthesize (R)- and (S)-rolipram without requiring the isolation or purification of intermediates, without excess amount of energy, and without purification of products from catalysts.

Professor Kobayashi says "This new technology can be applied to not only other γ-aminobutyric acids and medicines but also various chemicals such as flavors, agricultural chemicals, and functional materials. In the future, if this innovative catalyzed flow fine synthesis is established as an original Japanese technology, we can hope for significant development of the chemical, pharmaceutical and related industries and recovery of high skill manufacturing in Japan. "

 

Paper

Tetsu Tsubogo, Hidekazu Oyamada, Shū Kobayashi, “Tetsu Tsubogo, Hidekazu Oyamada, Shū Kobayashi”, Nature Online Edition: 2015/4/16 (Japan time), DOI: 10.1038/nature14343. Article link (Publication

Link

Graduate School of Science

Department of Chemistry, Graduate School of Science

Synthetic Organic Chemistry Laboratory, Department of Chemistry, Graduate School of Science

 

 

 

U-tokyo.ac.jp [en línea] Tokyo (JPN): u-tokyo.ac.jp, 20 de abril de 2015 [REF. 16 April of 2015] Available on Internet:http://www.u-tokyo.ac.jp/en/utokyo-research/research-news/new-synthetic-technology-for-medicines-and-fine-chemicals.html



News about vaccines against Parkinson's and multiple system atrophy

16 04 2015

The European Union supports further development of therapeutic vaccines against Parkinson's and multiple system atrophy

An international consortium of European top teams of research has received significant funding from the EU to the development of therapeutic vaccines against Parkinson's disease (EP) and the Multiple system atrophy (AMS). Led by Austrian biotech AFFiRiS AG company, the Consortium will use an original tandem strategy to advance the development of two vaccines therapeutic candidates in parallel. Both are unique in the potential of disease modification, something that makes missing urgently both on the EP as well as AMS. The two vaccines targeting a protein called Alpha-synuclein, It plays a key role in the onset and progression of PD and the AMS. In addition, the group tries to identify biomarkers with diagnostic value and prognosis. The Consortium is composed with leaders of medical and scientific opinion from Germany, France and Austria. The project, called SYMPATH, He has been awarded € 6 million, from the 7 th framework programme of the European Union, and will have a duration of 48 months.

 

Vaccine candidates (PD01A and power) they are part of the research of Austrian biotechnology company AFFIRIS AG who leads the Consortium and the clinical development in the field. The AFFITOME technology enterprise-based, both vaccines are intended to the protein Alpha-synuclein (Alpha-syn), It plays a key role in the onset and progression of the EP and of the AMS, latter being a disease an orphan, without registered therapy. These vaccines have demonstrated their modifying potential of disease in several systems of pre-clinical models.

 

Recognized as one of the world's leading companies in the field of Alpha-synuclein immunotherapy, AFFiRiS brought basic medical and scientific experts from eight prominent European organisations for the FP7 project, called SYMPATH. These institutions are the Forschungszentrum Jülich in Germany, INSERM F-CRIN of Toulouse and the departments of Neurology of the University hospitals of Bordeaux and Toulouse, of France,the College of medicine, Department of Neurology and the PROSENEX company of Innsbruck, Austria.

 

Commenting on this innovative approach, Professor Achim Schneeberger, responsible for clinical development at AFFiRiS and coordinator of SYMPATH, explained: “This clinical trial developed by the Consortium SYMPATH strategy sets a new standard for therapeutic vaccines and modifying agents of disease in neurodegenerative diseases such as Parkinson's and multiple system atrophy”. Dr. Markus Mandler, of the same llaborario, Adds:. “The tandem strategy is full compliance with clinical maturation AFFiRiS program. Based on the excellent safety profile of all vaccine candidates, This program allows a very quick test of new vaccines in humans. We are very pleased that the main opinion leaders are working with us in this project”.

 

In addition, the SYMPATH Consortium aims to identify biomarkers with diagnostic value and prognosis for both diseases, EP and AMS. Also it will be to test the feasibility of the use of the AMS as an indication of clinical reference for synucleinopathies, a group of diseases characterized by aggregation of Alpha-synuclein in so-called Lewy bodies. The use of the AMS as a clinical reference for synucleinopathies also could benefit much therapies in general the AMS, as the treatment of the AMS gives faster positive reading for the modification of the disease after vaccination. “On the basis of research recent in neurodegenerative diseases, you have opted to not only go to the EP, but also AMS, studies of vaccines PD01A power. If it is successful, It could be targeted to an unmet clinical additional and intense as multiple system atrophy, without registered therapy. Our approach could, at the same time, provide new knowledge scientists about the origin common in EP and AMS “, concluded the Prof. Wassilios Meissner, University Hospital of Bordeaux and expert clinical in AMS.

 

Nelyvivirelparkinsonenbaleares.blogspot.com [en línea] Palma de Mallorca (ESP): nelyvivirelparkinsonenbaleares.blogspot.com, 16 April of 2015 [REF. 09 in May of 2014] Available on Internet:http://nelyvivirelparkinsonenbaleares.blogspot.com/2014/05/novedades-sobre-vacunas-contra-el.html



Established relationship between exposure to pesticides and Lymphoma

13 04 2015

Prolonged exposure to certain pesticides and detergents increases the risk of lymphoma

The study published by The British Journal of Cancer is part of the project Epilymph, It was conducted in six European countries

 

The exposed individuals during at least 30 years to certain chemicals present in pesticides and detergents have up to a 32% more likely to develop a lymphoma.

Thus concludes it a study led by Silvia de Sanjose and Laura Costas, of the research program in epidemiology of Cancer of the ICO, that it has published the magazine British Journal of Cancer.

Lymphoma

A lymphoma is a malignant proliferation of lymphocytes, cells that are part of the immune system of the organism. It usually occurs in the lymph nodes, but it can also affect other tissues such as the liver and the spleen. For its part, chronic lymphocytic leukemia affects the lymphocytes circulating in the blood.

There are several types of lymphomas, It is divided into two main groups: Lymphoma-Hodgkin lymphoma and non-Hodgkin's (or Hodgkin's disease). In both groups, the incidence is higher in men than in women. The first group, the incidence is of 12,3 casos por cada 100.000 habitantes en hombres y de 10,8 in the case of women. In the case of Hodgkin's lymphoma, is of 2,5 casocases by each.000 habiinhabitants in men and cases in women.

 

Search for the causes

There are no clear causes that explain the appearance of a lymphoma. Several studies show that the odds of getting it increase in people undergoing organ transplants or suffer from infections by viruses such as HIV, hepatitis C or a late infection of Epstein-Barr virus.

The study published by The British Journal of Cancer is part of the Epilymph project, It was conducted in six European countries (Spain, France, Germany, Italy, Ireland and the Czech Republic).

They met 2.178 people diagnosed lymphoma and 2.457 sound of similar age and sex. Among others, participants should indicate those works that had developed a full-time for at least one year.

Researchers have concluded that the men were in contact with certain chemicals for at least 30 years have up to a 32% more risk of developing Lymphoma than those who were not exposed to these products. This association could not be found in women.

 

The chemicals in question are the so-called endocrine disruptors, that is to say, that you interfere with hormones in the endocrine system: You can activate or block hormone receptors or modify the production of natural hormones. They are present in pesticides, detergents, Plastic additives and fire retardants. The study has determined that the exposure metering does not increase the risk of developing Lymphoma, but the continuing does.

The conclusions of this study match of a work carried out between more 82.000 United States farmers, that it has determined that those who have been exposed to pesticides also have more risk for lymphoma.

 

Reference

Occupational exposure to endocrine disruptors and lymphoma risk in to European multicentric study. British Journal of Cancer (2015), 1-6 | DOI: 10.1038/BJC.2015.83

 

 

Ico.gencat.cat [en línea] Barcelona (ESP): ICO.Gencat.cat, 13 de abril de 2015 [REF. 08 April of 2015] Available on Internet:http://ico.gencat.cat/es/detall/noticia/150408-Pesticides-limfoma-00001



Teenagers shape each others views on how risky a situation is

9 04 2015

Young adolescents’ judgements on how risky a situation might be are most influenced by what other teenagers think, while most other age groups are more influenced by adults’ views

 

Credit: Petr Kratochvil/public domain

Young adolescents’ judgements on how risky a situation might be are most influenced by what other teenagers think, while most other age groups are more influenced by adults’ views, finds new UCL research.

For the study, published in Psychological Science, 563 visitors to the London Science Museum were asked to rate the riskiness of everyday situations such as crossing a road on a red light or taking a shortcut through a dark alley. Ratings were given on a continuous scale from low to high risk, and children (aged 8-11) generally rated situations as more risky than all other age groups.

Participants were then told how other people, either teenagers or adults, had rated the same situations, before being asked to rate each situation again. These risk levels from ‘ adults’ or ‘ teenagers’ were in fact randomly generated.

The results showed that all age groups were socially influenced and changed their risk ratings in the direction of other people’ s, but this social influence effect decreased with age. Most age groups adjusted their ratings more to conform to the ratings of adults than those of teenagers, except for young adolescents (aged 12-14).

“Young adolescents were more strongly influenced by other teenagers than by adults, suggesting that in early adolescence the opinions of other teenagers about risk matter more than the opinions of adults,” explains lead author Dr Lisa Knoll (UCL Institute of Cognitive Neuroscience). “Our findings suggest that the target of public health interventions should be adolescent social norms, rather than simply focusing on the potential health risks associated with certain situations and choices.”

Risk ratings were given on a continuous low-high scale without numbers, however they were converted onto a 0-10 scale for the analysis. On average, the first ratings given by each age group were as follows:

  • Ages 8-11: 6.2
  • Ages 12-14: 5.6
  • Ages 15-18: 5.2
  • Ages 19-25: 5.1
  • Ages 26-59: 5.5

 

After seeing a randomly-generated ‘ adult’ or ‘ teenager’ rating on screen, the average change in participants’ risk ratings was dependent on their age group. Illustrative examples of the average changes in risk are given below:

  • Children aged 8-11: change 36% towards the adult rating, 31% towards the teenager rating.
  • Young adolescents aged 12-14: change 29% towards the teenager rating, 25% towards the adult rating.
  • Mid-adolescents aged 15-18: change 19% towards the adult rating, 17% towards the teenager rating.
  • Young adults aged 19-25: change 14% towards the adult rating, 11% towards the teenager rating.
  • Adults aged 26-59: change 8% towards the adult rating, 6% towards the teenager rating.

 

As people get older, they become more confident in their own judgement of risk and less swayed by other people,” says senior author Professor Sarah-Jayne Blakemore (UCL Institute of Cognitive Neuroscience). “We know that adolescents are more likely to take risks when with peers than alone. Our study showed that young adolescents do not perceive situations as less risky than older age groups, but do tend to change their risk perception in the direction of the opinions of similar aged peers. So other teenagers’ opinions about risk seem to influence young adolescents into judging a situation as less risky than they originally thought it was.”

 

Media Contact

Harry Dayantish.dayantis@ucl.ac.uk 44-203-108-3844@uclnews http://www.ucl.ac.uk

 

 

 

Eurekalert.org [en línea] London (UK): eurekalert.org, 09 April of 2015 [REF. 27 March of 2015] Available on Internet:http://www.eurekalert.org/pub_releases/2015-03/ucl-tse032615.php



Training Karyotypes, app to learn how to analyse chromosomal abnormalities

6 04 2015

The Hospital Sant Joan de Déu creates the PPP Training Karyotypes, to learn how to analyse chromosomal abnormalities

 

The Hospital Sant Joan de Déu has launched into the market Training Karyotypes, the first mobile application in the world containing human chromosome, allowing students, graduates, graduate in biology and other disciplines related to genetics and biomedical sciences to prepare karyotypes (ranked image of human chromosomes).

The Hospital committed to innovation in the world of teaching with this new initiative that adds to the advanced simulation Center, created in 2013, to offer professionals a space robotics and simulation where professionals can rehearse how to deal with less common or more critical situations, and on the new website of the Hall of Pediatrics,recently promoted, offering each year more than 130 professional courses in the field of health.

 

Training Karyotypes is a tool that aims to facilitate the learning of cytogenetics by making it accessible to practitioners outside a laboratory environment.

 

The application proposes 269 cases in which the user has to sort the chromosomes to determine whether they present any alteration or do not have it, and learn how to write the formula of chromosomal. The app is now available for iPad and already you can download on App Store in two versions:

 

1- Free version. It offers 5 karyotypes and three levels of difficulty

2- Full version. It offers 269 karyotypes and three levels of difficulty. The price is of 3,99 EUR.

 

 

Hsjdbcn.org [en línea] Barcelona (ESP): hsjdbcn.org, 06 April of 2015 [REF. 13 March of 2015] Available on Internet:http://portal/es/web/2149152853/ctnt/dD98/_/_/znsvvd/El-Hospital-Sant-Joan-de-Déu-crea-la-app-Training-Karyotypes-para-aprender-a-anal.html www.hsjdbcn.org/



Identified the causes that explain the stiffness of the aorta in Marfan syndrome

2 04 2015

A work led by the UB explains the cause of the stiffness of the aorta in Marfan syndrome

 

A team of researchers led by the University of Barcelona has determined the basic mechanisms causing the stiffness of the ascending aorta in patients with Marfan syndrome and, as a result, ascending aortic aneurysm. Aneurysms of the aorta, both the chest and the abdominal, are the 19th leading cause of death in the world, and this minority genetic syndrome is a paradigmatic illness to study this type of Pathology.

 

Diagram showing an aneurysm of the aorta in Marfan syndrome (left). Much of this aorta elastic fibers are broken, What does not occur in a normal aorta wall (right).

The main conclusions of the work, published in the magazineArteriosclerosis, Thrombosis, and Vascular Biology, the stiffness of the aorta is explained by a combination of several factors. On the one hand, alterations of the extracellular matrix and changes in the phenotype of the smooth muscle cells; on the other hand, alterations in the regulation of the growth factor beta (TGF-beta).

The study shows that the change in cells and the extracellular matrix that makes them stiffer would explain the stiffness of the aorta and is a marker for the beginning of the aneurysm. "We think that this phenomenon could also be in other types of aneurysms of the aorta called non syndromic; since they do not have a genetic cause. Therefore, This could be a general mechanism that takes place in a more accelerated way in the case of Marfan», explainsGustavo Egea, the research leader, Professor of the Department of cell biology, Immunology and Neuroscience at the University of Barcelona and member of the Institute of nanoscience and nanotechnology (IN2UB) and of the Instituto de Investigaciones Biomédicas August Pi i Sunyer (IDIBAPS).

Research has been conducted in close collaboration withIsabel Fabregat, one of the authors of the work and Professor of the Department of Sciences physiological II of Barcelona and researcher at the Research Institute biomedical of Bellvitge (IDIBELL)and it has been with Marfan patients operated to carry out a repair of aorta, that we have obtained samples of the affected area and more remote areas. On the other hand, These samples have been able to compare with others of heart donors. From its cell analysis, Molecular and biophysical have been able to study, both tissue and cell culture, the basic mechanisms that are altered in disease.

 

Aortic aneurysm and fibrotic process

In patients with Marfan gene mutation occurs in the gene that codes for the protein, fibrillin I, What causes malformation and the elastic fiber Assembly. These, together with smooth muscle cells, they constitute the most important part of the wall of the thoracic aorta. The work shows that smooth muscle cells that are in the midst of these fibers acquire a much more contractile phenotype of normal, making them more rigid.

At the same time, in the outer array increases the secretion of collagen as a mechanism to compensate the rupture of elastic fibers; which further increases the rigidity of the walls of the aorta and a process of type fibrotic which can lead to rupture of the aorta occurs.

One of the determining factors in these two processes is the cytokine TGF-beta. The matrix, under normal conditions and with the same fibrillin I, It acts as a regulator of TGF-beta availability. In Marfan patients, in which the fibrillin has mutated, the matrix loses this ability to reserve of TGF-beta. «TGFbeta excess is one of the reasons that makes the cells more contractile. It is therefore, from the point of view of the treatment, If we check the availability of the TGF-beta or phenotypic alteration of cells, We will stop or ralentizaremos progressive stiffness of the aorta", explains Gustavo Egea.

 

Marfan syndrome

Marfan syndrome is a genetic disease caused by the mutation of a gene that codes for the protein, fibrillin I, one of the two main components of the elastic fibers that form the connective tissue. As a result of this mutation, the Assembly of elastic fibers in tissues is wrong, and therefore its function of relaxation and distension is lost and tissues are damaged from rapidly.

All tissues where there are many elastic fibers are affected, as the skin, where leave stretch marks, or the lens of the eye, that moves and causes blindness. All these dysfunctions, the most important is the rapid weakening of the ascending aorta, that gives place to the aortic aneurysm and subsequent dissection.

The set of these clinical manifestations is what is known asMarfan syndrome, Despite being a minority disease has a high prevalence of 1/5.000 patients whose diagnosis is not easy.

Marfan patients are very tall people with disproportionately long limbs. The average life of the sick is approximately forty years, and about the 50 % of the population that has the disease is not diagnosed. In Catalonia there may be near 5.000 people who suffer from it.

The diagnosis is made through a study of the clinical manifestations, each of which is assigned a score. In case of doubt a genetic analysis can be.

The work that the UB researchers have led is highly cross. In it participated, In addition to the researchers of the UB and the IDIBELL, the Marfan unit of Madrid and a group of surgeons in the Hospital Clinic of Barcelona, Hospital 12 October Madrid and Hospital de Bellvitge, in that pathologists have also collaborated. The participation of researchers from the Institute for bioengineering of Catalonia led by Daniel knives has also been relevant. The article has also participated Hal C. Dietz, that in 1991 He discovered that the mutation in the fibrillin I caused disease.

 

Reference article:

E. Crosas-Molist, T. Meirelles, J. Lopez-Luque,C. Serra-Peinado,J. Jungle, L. Box, D. The white Gorbenko, J. J.JUriarte, E. BERTRAN, AND. MENDIZABAL, V. Hernandez, C(C) Garcia-Calero, O. Busnadiego, E. Condom, D. Toral, M. Castella, A. Forteza, D. Knives, E. Earri, (F). Rodriguez-Pascual, H. D. (D)ietz, I. Fabregat, G. Egea.«Vascular smooth muscle cell phenotypic changes in patients with Marfan syndrome»Arteriosclerosis, Thrombosis, and Vascular Biology, 2015, 35:00-00. DOI: 10.1161/ATVBAHA.114.304412

 

 

 

Idibell.cat [en línea] Barcelona (ESP): idibell.cat, 02 April of 2015 [REF. 24 March of 2015] Available on Internet:http://modul/noticies/es/776/un-trabajo-liderado-por-la-ub-explica-la-causa-de-la-rigidez-de-la-aorta-en-el-sindrome-de-marfan www.idibell.cat/