he PAX syndrome 1 He is a Hereditary disease Of the many rare diseases that we suffer from, which are caused by… Mutation in the genecharacterized Growth retardationA Intellectual disability Which can be mild, moderate or complex, with specific facial and genetic characteristics, including: difficulty speaking, aversion to food and drink, unpredictable tantrum behaviour, autistic similarities, visual anomalies, muscle weakness, epilepsy and…
Since childhood, epileptic seizures or atrial or ventricular septal defects sometimes occur… The diagnosis is made using Genetic tests. In Spain, the first two were discovered from a health perspective by a doctor Janicki Shores Howell G MakersClinical Geneticist, Department of Human Genetics, V Radboud Medical Centre From the Medical University of Nijmegen, the Netherlands. They were in 2012.
They came from Belgium and the Netherlands. This is for children with autism spectrum disorders (The torch) or Smith-Magenis syndrome (SMS) Medicine Suitable slenito For insomnia in children from two years of age, and taking into account the risk if they suffer from liver or kidney disease, a doctor should be consulted and prescribed.
Alberto Gagofather of a child with the very rare Schurz-Hoegmakers syndrome (pax1), he went to the Ministry of Health, before OmbudsmanThey were registered with the aim of deciding to fund Selenito, a specific treatment for insomnia in minors with disorders (The torch) or PACS1 syndrome.
Consider one Deep injustice For these patients. In the application submitted to that ministry, Gago stated that Extended release of melatonin Between 1 and 5 mg. Licensed by the Spanish Agency for Medicines and Health Products (Imps) to treat insomnia in children and adolescents with autism spectrum disorder or Smith-Magenis syndrome, with A Treatment Report (IPT) From 7-I-22, updated 2-IV-25, its specific therapeutic benefit is recognized with no alternatives having an equivalent pharmacokinetic profile.
Despite the positive evaluation and authorization, this medicine is not included in the list of medicines Public financing Follower National health system. Families must pay for a box containing 30 Selenito 5 mg tablets each time. €144.47 = €1,728 per year – at the moment – taking into account the need Children due to prolonged treatment…
And saving lives we find ECMO. A little over a month ago, A 25 years old young man He was playing football in Barcelona, when he died suddenly, and his heart stopped. Emergency services took him to Val d’Hebron University Hospital In Barcelona, Dr. Jordi Riera, who runs the adult ECMO program, implemented the appropriate protocol, and in 6 minutes, it was done “Connected” to ECMO.
This young man now holds Normal life And most importantly, without any consequences, thanks to this “resuscitation” machine. This intensive care physician is considered one of the world leaders in the field of resuscitation using this system ECMO (short for oxygen With an extracorporeal membrane) is a technique capable of Replacement of heart function And lungs for critically ill patients, without a pulse or breathing, and even to bring back to life those who have been clinically dead for a few hours.
In an interview with Europe Press Salud Infosalus, he was asked about a case that was shocking. He spoke about Audrey, who was almost 30 years old. In November 2019, she went for a walk in the Pyrenees and suffered from… Accidental hypothermiaHis heart stopped for 6 hours. With ECMO applied he was cannulated, and Get up, wake up In good condition. A month after the cardiac arrest, he lived a normal life. This case was published in all its details in The Lancet magazine.
In this technique, blood is extracted from a vein and then transferred through a centrifugal pump that rotates inside the vein Fluid drainage machine This drives him, and also depends on A Mixing It not only replaces the heart’s function by pumping blood and distributing it throughout the body, but also to the lungs, where it introduces oxygen, removes carbon dioxide, and returns it to the blood through the return cannula.
In this way, the heart and lungs are replaced for a specified maximum period of time 29 days…doctor. That’s understandable, Riera said Reversible It is the key to using ECMO, specifying that it is not a treatment in itself, but rather a treatment A bridge to recoverybeing a function substitution maneuver.
For example: A patient with Covid pneumonia has had his lungs stop working, and ECMO has replaced their function, even though the pathogen itself persists; Therefore, in parallel, the patient should receive A Antibiotic treatment“, noted Dr. Riera. A warning if a person has pulmonary fibrosis, when one lung is not working properly IrreversibleHe cannot benefit from ECMO.
This system is very complex, and relates to fatal cases, e.g Bleeding, infection, or clotting. This is why it is so important Staff training That I can use it, just like Scientific research.
As for patients who cannot benefit: they are those who are sick Very oldwith reversible lung or heart problems (Bacterial infections Or others who suffered heart attackis a candidate for a transplant. These situations create a certain amount of insecurity in the application of ECMO.
Unfortunately in Spain, not all centers or Hospitals can offer ECMO With all its capabilities. Dr. Rivera is an expert in Val d’Hebronwho, by the way, is very proud of the organization that has been developed in this, believes that in order to preserve The ECMO team is well trained The ideal situation would be to focus the issues on them Large centers of patients, with the aim of increasing survival.
Dare to say that the regulation of ECMO in Spain is anarchism! Between different hospitals, organization…which must start from a higher entity, which may be Regional governments…I would also like to help the system improve “knowledge”so that the research can develop and improve its implementation and management.
With all this, Dr. Jordi Riera del Prío wrote a book: Extracorporeal resuscitation (extracorporeal resuscitation)He denounced the lack of investment and financial support for scientific research in Spain, which should be an indispensable pillar of the health system in general.
Taking into account Important consequences These shortcomings involve the development and application of ECMO, a technology that… life jacket.
Written by Antonio Quiros Abadia. the world of nature.