Month: August 2011

The head of preventive medicine of Hospital Carlos III directs a study of centenarian people in Spain.

|

the head of preventive medicine of Hospital Carlos III directs a study of centenarian people in Spain.

is performed with the society of General physicians and family

-the program is REBORN is a study of people in extreme longevity is going to perform at the national level with the Spanish society of General physicians and family and is directed by Dr. Juan Martínez, head of the service of preventive medicine of Hospital Carlos III. The study seeks to know the State of health of the Centennials and the factors that favor longevity

Spain, 2011-August El doctor Juan Martínez Hernández, head of the service of preventive medicine of Hospital Carlos III, is responsible for directing the programme is REBORN, which is the national registry of Spain Centennial. The programme is carried out with the Spanish society of General physicians and family (SEMG) and is the first initiative that coordinates clinicians, epidemiologists, and basic scientists (biochemical and genetic) to develop research on extreme longevity.

According to Dr. Martinez, the programme is REBORN allows important and unpublished studies on the determinants of longevity. I.e. it will describe the State of health of the Centennials and will allow to know any of the factors that favor longevity, from epidemiological aspects, such as those related to the geography, climate, diet and lifestyle, until genetic aspects, can predispose to longevity. In addition, keys will be searched for achieving this extreme longevity with quality of life, i.e., how to extend the
life free of disease.

Registration and follow-up of patients will be through a network of medical staff, especially optional family and primary care, which are in contact with the patients, who receive the protocols of participation for the collection of samples to be collected and studied.

These samples will be the usual studies, biochemical and genetic, always with the consent and under the premises of the biomedical research act test.

The objective of the programme is REBORN, we try to provide some explanation for the phenomenon of extreme longevity, which allows to improve the health of the people of any age, and describe it in terms of State of health of the Centennials and their personal reality and social.

Read More

A new genetic test private for the early diagnosis of cystic fibrosis are using it to make up for the lack of a public screening of this disease in 6 CCAA.

|

a new genetic test private for the early diagnosis of cystic fibrosis are using it to make up for the lack of a public screening of this disease in 6 CCAA.

is a situation that seriously threatens the equity, one of the pillars of the national system of health


-Asturias, Cantabria, Navarra, La Rioja, Castile – La Mancha, Valencia and Ceuta does not have a system of screening for cystic fibrosis that do have been implemented in the rest of the autonomous communities.

-cystic fibrosis causes premature death, but a diagnosis early enables early treatment, which improves the symptoms and quality of life of patients

-the lack of screening — and, therefore, early diagnosis — of this disease is that families of children with cystic fibrosis can be even more than ten years without knowing what happens to them and without adequate treatment.

– new methods of screening and genetic diagnosis, are enabling the early identification of the disease by one-tenth of the cost of the conventional. technical

Madrid, June 2011.- cystic fibrosis (CF) is more common in Europe genetic disease. One in 30 people is asymptomatic carrier of changes in their DNA that may be responsible for the emergence of this disease and it is estimated according to the Spanish Federation of Cystic Fibrosis, that its impact on Spain is a case per 3,500 live births. However, despite the fact that the Spanish legal system establishes equity in the exercise of the right to health, yet there are six autonomous communities (Asturias, Cantabria, Navarra, La Rioja, Castile – La Mancha and Valencia) and an autonomous city (Ceuta) that do not have prenatal screening of this disease in its health public.

faced with this situation, the family and pediatricians in these regions are opting to fill this gap in the equity of the previous public health systems, with a new genetic technique of analysis of the DNA of the newborn child, thanks to the fact that there are 10 times lower than conventional techniques cost. The test, known as Neonatal One Plus has been developed by the Spanish company Genetadi Biotech and only requires a sample of saliva for the obtaining of the diagnosis, carried out in 15 days, with the three months of the conventional. technical

the absence of a neonatal screening for cystic fibrosis represents each child born with this disease in the autonomous communities without screening programmes to overcome on average, more than ten years without an accurate diagnosis; Nevertheless, in contrast to the neighbouring autonomous regionschildren with cystic fibrosis are diagnosed early and have an effective treatment from his birth.

in the absence of a proper diagnosis, this degenerative disease that causes premature death, will worsen their symptoms, affecting mainly the lungs and the digestive system. Have a diagnosis early, however, allow early treatment, which improves symptoms and quality of life of patients (most of them children) and increases his hope and quality of life.

as has explained the head of the new genetic technique in screening neonatal CF, Dr. José Luis Castrillo, Co-Director of Genetadi Biotech, and scientific head of the Higher Council for scientific research (CSIC), “ up to now, the costs and complexity of neonatal CF screening systems have led to its screening is not possible in all the autonomous communities. This, coupled with the sick child presents a complex symptoms, causes misdiagnosis, inappropriate treatment, and that often these children are detected late in the consultations of Paediatrics ”.

the Co-Director of the Genetadi Biotech company has stated, also, that they are receiving “ samples for neonatal screening for cystic fibrosis of pediatricians and clinics in various autonomous communities do not have this disease newborn screening programmes ”. Also pointed out that other communities that do have such programmes, “ are also receiving requests for screening, both for reasons of cost and time, as there are families who are not willing to wait three months to confirm whether his newborn son has a genetic disease that requires urgent treatment ”.

as explained by the expert, “ current screening methods start with a first biochemical test, which presents a high percentage of false positive. When there is a possible positive, carried out new evidence through genetic engineering, whose results it takes between two to three months, and that the vast majority of cases, they deny the first result ”.

in this way, the patient and their family “ live for months with anguish, awaiting the result confirming ”. Genetadi has removed the biochemical initial test of the process and has developed a new genetic analysis directly — the Plus One Neonatal —, reducing costs and time. This test is in addition to the screening of neonatal metabolic diseases “ Neonatal-One ” makes Genetadi and that it has been recommended by the Spanish society of errors inborn in metabolism.


Read More

The study showing that PNH patients treated with eculizumb have the same rates of survival than the general population.

|

the study showing that PNH patients treated with eculizumb have same survival than the population rates general.

the journal of Hematology Blood published.

– the paroxysmal nocturnal hemoglobinuria (PNH) becomes, in this way, one of the few rare diseases with a treatment to reduce fatal risks that can suffer patients.

-the Department of Hematology of the Hospital Universitario St James ’ s of Leeds (England), with Professor Richard j. Kelly at the head, carried out the study over eight years and with the participation of 79 patients PNH.


Barcelona, July of 2011- the prestigious journal of Hematology Blood (by a factor of impact 10.55) has published its last issue (Blood June 23, 2011 Vol 117 No. 25 6786-6792) study showing that patients with paroxysmal nocturnal hemoglobinuria (PNH) treated with Eculizumab have the same rates of survival than the general population. This study has been done by the Department of Hematology of the Hospital Universitario St James ’ s of Leeds (England), with Professor Peter Hillmen head,

the study had a duration of eight years (2002-2010) with the participation of 79 patients with this disease.

the study, who collected the Blood publication in its online edition the past month of April, shows that the drug is able to significantly reduce the risk of thrombosis, the cause of most common death among patients with PNH. In fact, 34 thrombotic episodes had occurred in 21 of the 79 patients (27%) before being treated with eculizumab. However, the patients treated with eculizumab only occurred in 2 cases of thrombosis.

also treatment with eculizumab drastically reduced the need for blood transfusions that these patients require because of anemia. The study also shows clinical benefit at the level of efficacy and safety in the long term (eight years), concluding that it is a well tolerated drug. The authors also collected in the study, eculizumab changes dramatically the natural course of the disease.

in the view of the DRA. Ana Villegas, the San Carlos Hospital in Madrid, the study of “ demonstrates the effectiveness of the drug in his performance on the hemolysis. As a consequence slows down almost all complications of the disease. ” “ the most dangerous complication was that 50% of patients were suffering from thrombosis and almost half of them dying for their cause. So the demonstration of the effectiveness of the treatment is very important to clinical ”, explains the DRA. Villegas.

in addition, DRA. Villegas also qualifies that prior to this study “ said that the patient should receive four blood transfusions in the past year ” before treatment with eculizumab. But it has been shown that “ there are problems of thrombosis or kidney failure patients that do not require a prior transfusion ”.


paroxysmal nocturnal hemoglobinuria.

the paroxysmal nocturnal hemoglobinuria (PNH) is a ultra-rara disease that affects about 250 patients in Spain. It is a genetic disorder in which certain proteins do not adhere properly to the red blood cells and therefore these remain unprotected against the immune system and are destroyed prematurely and continuously. It is a very rare condition deteriorating form continuous and progressive patients and constitutes a real threat vital.

first described in 1882, took this name because it was observed that hemolysis (destruction of red blood cells) occurred in situations of crisis and in the evening, during sleep, and after situations of stress, infections, physical effortvaccinations or ingestion of aspirin.

PNH often occurs without warning and affects both sexes, usually between 30 and 40 years, and the delay in diagnosis may reach up to 10 years. The median survival of patients with PNH ranges between 10 and 15 years from the time of diagnosis. It is estimated that it affects between 8,000 and 10,000 people in Europe and North America.

to the authorization of eculizumab, there was no specific therapy for the treatment of PNH. The treatment of this disease was limited to the management of the symptoms through blood transfusions, therapy immunosuppressive non-specific and, in some cases, bone marrow transplant, a procedure that entails a considerable risk of morbidity and mortality.

rare diseases (EERR).

rare or low prevalence diseases grouped a wide and heterogeneous set of potentially life-threatening or debilitating diseases in chronically affecting less than 5 people for every 10,000, according to the classification established by the (European Medicines Agency) EMA in the European Union. This means that the maximum number of patients from a pathology can be considered rare would be 227.000 in the European Union and approximately 22,000 in Spain.

some of the features of rare diseases are as follows:

– in 50% of cases are diagnosed an EERR vital prognosis is at risk. Credited for 35% of deaths in children under one year, 10% of the deaths between 1 and 5 years and 12% in children aged 5 to 15 years.

-65 percent of low-prevalence diseases are serious, chronic and highly disabling. Are characterized by an early start in life (2 of every 3 diseases appear before age two), they lead to chronic pain (in 1 of every 5 patients) and involve a motor, sensory or intellectual deficit in half the cases, and can cause disability in the autonomy.

– the main problems of those affected by an EERR are lack of access to early and correct diagnosis, the lack of information and specialized professionals, the lack of scientific knowledge and the lack of specific treatments authorized, among other factors.

– of 6% to 8% of the population is affected by these diseases, or more than 3 million Spaniards. Fifty diseases affect some thousands of people in Spain and some thousands of rare diseases only tens of people

– in all Spain, there are some 500,000 children affected some EERR.

– it is estimated that 12% of hospital discharges recorded some EERR diagnosis, which means 445,000 patients each year in Spain.



Read More

More than 300 global experts debate in Barcelona on the latest studies on genetic mutations and cancer.

|

More than 300 global experts debate in Barcelona on the latest studies on genetic mutations and cancer.

forty-first Congress European of mutagenesis.

Bellaterra, Cerdanyola del Vallès, 2011-July the researchers María Blasco, Director of the CNIO (National Cancer Center) and Manel Esteller, director of the programme of Epigenetics and cancer biology of the Institute of biomedical research of Bellvitge (PEBC-IDIBELL) have been responsible for opening and will also do likewise in the closing event, of the forty-first European Congress of mutagenesis, being these days from 4 to 7 July in Barcelona. The event has been organized by Dr. Jordi Surrallés, Professor of the Department of genetics and microbiology of the Universitat Autònoma de Barcelona (UAB) and member of the rare diseases Cyber (CIBERER), on behalf of the European Environmental Mutagen Society (EEMS).

A total of 65 conferences will be taught by world experts from different European countries, which presented recent studies on aspects of genomic stability, molecular Oncology, the origin of mutations, the effect and the detection of agents mutagenic and potential of cancer induction.

Presentations program is structured in ten sessions, including those dedicated to repair of the DNA, personalized therapy against cancer, rare diseases of tumor susceptibility, genotoxicity of nanoparticles, genetic toxicology in the pharmaceutical and chemical industries and studies of populations exposed to carcinogens.

Before the opening of the Congress, which was held at the Conventions Palace Barcelona Fair Centre Hotel, a meeting of labour statistics was held in genetic toxicology.

Through the Vice President for research, the UAB and the CIBERER are sponsors of the Congress, together with the Ministry of science and innovation, the genome Foundation Spain and AGAUR (Agency of management of aid University and research). Other institutions and pharmaceutical, chemical and biotech companies who have given their support to the meeting have been BioReliance, Covance, ECETOC (European Centre for Ecotoxicology and Toxicologic of Chemicals), Elsevier, CRF (Fonds der Chemischen Industrie), Hesi, Gentronix, Givaudan, GlaxoSmithKline, Harlan, Huntingdon, L ’ L’Oreal, MetaSystems, Novartis, Perceptive Instruments, Pfizer, Sanofi aventis, Trinova Biochem, UKEMS (United Kingdom Environmental Mutagen Society), and Unilever.

Agenda of the forty-first European Congress of mutagenesis

European Environmental Mutagen Society

Read More

Andalusian researchers will develop a type of childhood leukemia cell model.

|

Andalusian researchers will develop a type of leukemia cell model child.

the project will allow knowing the behavior of this disease that affects children under the age of six months and has a very low survival. index

Andalusia, 2011-July A research group belonging to the Health Department of the Board of Andalusia and led by Dr. Pablo Menéndez, Coordinator of the area of cells BioBank Andalusia mother, carried out a research project for the development of cellular models designed to decipher the origin and the pathogenesis of linflobástica in infant leukemia.

The work to be held in Granada, has been selected by the Spanish Association against cancer (aecc) for the endowment of one of only two aid granted by the institution at the national level to research on childhood cancer projects. Thus, details have been known in the morning on Monday during the signing of a cooperation agreement between the Association and Foundation public Andalusian progress and health as a central body for support and management of the research of the Ministry of health.

The signing of the Convention, which sets out the amount of 150,000 euros to the project and distributed in three annual instalments, has counted with the presence of the general director of quality, research and management of the knowledge of the Ministry of health, Carmen Cortes; the managing director of the Andalusian progress public foundation and health, Juan Jesus banner; the principal investigator of the project, Pablo Menendez; and the President of the Spanish Association against cancer, Isabel Oriol.

They all agreed on the relevance of a project of this nature and the importance of financial support from various sources of funding and collaborations and ties of cooperation between different entities.

A disease of poor prognosis

The project funded, according to detailed research, is based on a type of leukemia, specifically, an acute lymphoblastic leukaemia that affects children under the age of six months and that, unfortunately, “ has a prognosis fatal: in five years, 72% of patients died, so the survival rate is very low, 28% ”.

The work focuses on the development of cellular models aimed at deciphering the cellular origin and pathogenesis of this leukemia now that, in the words of Menéndez, “ is necessary that we have a model of this disease to study in the laboratory, imitate, and, therefore, develop some therapeutic approaches ”. Because the models developed in mice reproduce latency or the phenotype of the disease.

In this sense, the research group will work in the generation of two cellular models for this disease: one with human embryonic stem cells and other stem cells reprogrammed (iPS), with which can analyze the behavior of this leukemia and possible therapeutic ways from different approaches. Thus, the principal investigator of the project emphasised that both models allow a valuable epidemiological approach to the study of this disease, as “ know that it generates in the uterus of the mother and the fetus develops leukemia because it mutates the MLL gene due to the intake of the mother of actors genotoxic (those that damage the DNA and may cause mutations) ”. For the researchers is essential to know what should be avoided the mother to disease did not reach the child.

The project, called Infant MLL-BF4 + pro-B Acute Lymphoblastic Leukemia: towards the elucidation of the molecular and cellular mechanisms underlying MLL-BF4-mediated transformation in human stem cells, with the collaboration of different centers in the country: the Hospital Virgen del Rocío of Sevilla, the Hospital Universitario Niño Jesus of the CNIO, Madrid, the University Institute of Oncology of the Principality of Asturias (IUOPA).

The first Andalusian award-winning project

The Spanish Association against cancer annually Announces grants for research projects on cancer in patterns of adult and child and, with the choice of this project is the first time awarding to a research group in the autonomous community. In total, and according to the Association, to the form of childhood cancer was presented around around 30 projects.

Andalusia currently has two active aid in collaboration with the national entity; on the one hand, the work already referenced and, on the other hand, a contract postdoctoral fellow with an Andalusian investigator, René Rodríguez, also attached to the group led by Dr. Pablo Menendez for the development of various research projects related to cancer that started in 2009.

The aecc promotes cancer research through its scientific foundation, launched in 1971 in order to manage all the applications received for the call for aid to research aimed at the promotion of scientific practice in this field.

Read More

Surah Al-Rehman – The Ultimate Free Remedy for Incurable Diseases

(By Listening Only- 20 Minutes Only)

Kindly download the Surah “AL-REHMAN” (recited by Qari Abdul Basit without translation) from here.


Treatment Plan

Just Listen to it three times a day (morning, afternoon, evening) for seven consecutive days using following procedure:-


    Before listening:

  • Close your eyes
  • Feel your self in front of ALLAH Almighty/ God
  • Then listen to it with greater concentration and closed eyes

    When the recitation/ AUDIO is finished:

  • Open your eyes and take half glass of water
  • Close your eyes again and say “ALLAH” three times in your heart with deep affection/ love
  • Then drink the water with closed eyes in three sips

Surah Al-Rehman – The Ultimate Free Remedy for Incurable Diseases

(By Listening Only- 20 Minutes Only)

Kindly download the Surah “AL-REHMAN” (recited by Qari Abdul Basit without translation) from here.


Treatment Plan

Just Listen to it three times a day (morning, afternoon, evening) for seven consecutive days using following procedure:-


    Before listening:

  • Close your eyes
  • Feel your self in front of ALLAH Almighty/ God
  • Then listen to it with greater concentration and closed eyes

    When the recitation/ AUDIO is finished:

  • Open your eyes and take half glass of water
  • Close your eyes again and say “ALLAH” three times in your heart with deep affection/ love
  • Then drink the water with closed eyes in three sips