Que el tratamiento no sea un freno para mantener la vida social es una de las máximas del proyecto que lleva a cabo el Hospital Infanta Cristina de Parla (Madrid). Aprender a vivir con los nuevos procesos terapéuticos que implican la lucha contra el cáncer resulta clave para los pacientes. Todas las actividades incluidas en el Programa de Apoyo en el Tratamiento Quimioterápico del Hospital Infanta Cristina se acompañan de ejercicios para la práctica de la relajación entre los usuarios, como método de ayuda para afrontar la enfermedad. «He acudido a todos los talleres propuestos y me ha servido para aclarar las dudas que tenía, ya que lo que no preguntaba uno lo hacía otro, y se convertía en una reunión interesante», explica Crescencia Ramos, paciente de cáncer de mama. Los talleres son impartidos por personal de Enfermería del Hospital de Día Médico y son fruto de la iniciativa de un grupo de enfermeras del propio Hospital de Día y Salud Mental, junto a los servicios de Oncología, Hematología y Psiquiatría del Infanta Cristina. En el taller de Estética colabora la Asociación Española de Estética Reparadora Integral (Aeeri), especializada en la restauración de secuelas corporales en pacientes con cáncer. «Me quedo con el aspecto positivo con el que se tratan los temas», destaca Crecencia.
De este modo, quienes acuden a estos talleres encuentran asistencia para su mejora física y emocional. «Se realiza una edición al mes de cada uno de los talleres que componen el programa: Mitos y leyendas, cuidados generales, y cuidados estéticos», explica Alberto Rando, responsable de los mismos y supervisor del Hospital de Día Médico.A los talleres han acudido una media de 14 enfermos. Este número de pacientes anima a que este programa tenga continudad. «Desde un punto de vista práctico, son interesantes los dos primeros. En mi caso, que ya había superado la quimioterapia, ya conocía mucho de lo que explicaban, pero no sobre la parte médica y clínica. Sin embargo, el taller de estética resultó bastantante atractivo, ya que explicaban el uso de las pelucas y los pañuelos y los distintos modelos», cuenta Beatriz Merayo, paciente de cáncer de mama.
En este sentido, Beatriz explica que es importante cuidarse para verse bien, por lo que ella procura combinar pañuelos con la ropa y vigila los detalles de su aspecto. «No podemos dejarnos por culpa de la enfermedad, no debemos dejar hueco a la desidia por culpa del tumor. Hay que mimarse», apunta Beatriz.Por su parte Ana María Carmona, paciente con un tumor de endometrio, se muestra contenta y satisfecha de haber acudido a este tipo de encuentros, «ya fueron muy enriquecedores, dado que tienes la oportunidad de compartir experiencias que hasta momento creías únicas e individuales». Si tiene que quedarse con uno en especial, elige el que trata el tema de los efectos secundarios, «fue bastante aclaratorio, sobre lo que te afecta y lo que no. Con respecto al de estética, sí he de decir que fue muy divertido y sorprendente. No llevé peluca durante la quimio, pero me di cuenta de que ahora son mucho más naturales y de que apenas se notan», cuenta Ana.
Asimismo, todas las actividades incluidas en el Programa de apoyo en el tratamiento quimioterápico del Hospital Infanta Cristina se encuentran acompañadas de ejercicios para la práctica de la relajación entre los usuarios, como método de ayuda para afrontar la enfermedad. «Esto sirve a los pacientes para liberarse del estrés y de la ansiedad que genera este tipo de terapia, ya que los pacientes desconocen cómo es realmente», manifiesta Alberto Rando.Esta herramienta «extra» que se ofrece a los enfermos, les es muy útil en los momentos más críticos de la «quimio», ya que como muchos afirman «todo lo que supone el tratamiento te pone nerviosa y sólo deseas que se acabe».
**Publicado en "LA RAZON"
30 May 2011
Fraunhofer MEVIS: New procedure to make brain surgery safer
Brain interventions must be planned so that the neurosurgeon can access and remove the tumor without causing unnecessary damage. Before the brain tumor can be removed, crucial questions must be answered. Where do the functional areas of the cortex (gray matter) of the patient lie? What are the paths of the nerve fiber tracts that connect them? Answering these questions is important because the functional areas of the brain are interconnected via nerve pathways, also known as nerve fiber tracts. These nerve tracts must be protected as much as possible; otherwise, permanent dysfunction could occur. Furthermore, nerve tracts can be pushed or infiltrated by the brain tumor itself. If nerve tracts become damaged during an operation, there is a risk that distant functional areas connected to the tumor-afflicted part of the brain could be affected and induce lasting sensory, motor, and cognitive impairment. Therefore, neurosurgeons attempt to answer these questions for each patient during the planning stage of the brain operation to minimize the risks present in the intervention. To do so, surgeons require medical imagery of each patient's brain anatomy and function that is as realistic and precise as possible. However, medical images contain inaccuracies that arise from the processing, modeling, and reconstruction of patient data. Solving these problems requires more than merely improving existing imaging methods. Mathematical analysis and models must be integrated to produce information about the location of the tumor, functional areas, and nerve fiber tracts, to increase the accuracy of patient-specific data, and to give the surgeon dependable knowledge.
The Fraunhofer MEVIS Institute for Medical Image Computing in Bremen, Germany has pioneered a procedure that analyzes uncertainty in patient-specific images, modeling, and reconstruction and incorporates this information into reconstructions of patient data. This procedure allows safety margins around nerve tracts in the brain to be more accurately determined. In addition, the reliability of the reconstructed data is calculated to supply the surgeon with accurate information concerning nerve tract locations, paths, and intersections and to construct safety margins around the nerve fiber tracts. By integrating errors in measurement, reconstruction, and modeling, the exact locations of tracts in a space-occupying tumor are calculated. This gives the neurosurgeon a reliable prognosis concerning where the incision in the brain should be made and which safety margins should be chosen to avoid harming nerve tracts and irreversibly damaging important functional areas. Before an intervention, the surgeon can evaluate patient-specific risks. These software assistants will be refined and implemented for neuronavigation in future operations, providing the surgeon with updated information during surgery that can be compared to planning data.
The paths of nerve tracts in the brain and the functional areas that they connect can now be explored by visitors of the "New Paths in Medicine" exhibit on the MS Wissenschaft exhibition ship. The converted inland vessel is underway until September 29, 2011 and docks in 35 different cities. During the "Year of Health Research", visitors can familiarize themselves with the field's newest trends, developments, and research findings. The exhibit showcases a physical three-dimensional model of the brain produced through an innovative printing process based on the medical image data of a real person. This brain model can be touched and viewed from different angles thanks to its rotating base. Nerve tracts can be activated by touching sensors on the physical model that correspond to functional areas of the brain. The brain is displayed on a screen along with the activated nerve tracts that are responsible, for instance, for sight, speech, feeling, and motion. This new form of interactive exhibit was developed by Fraunhofer MEVIS in Bremen together with the Universum® Science Center in Bremen to demonstrate how modern image processing combined with mathematics and intelligent software can help make neurosurgical operations more predictable and safe. The three-dimensional print of the brain was produced by the Fraunhofer-Institut ITWM in Kaiserslautern.
The Fraunhofer MEVIS Institute for Medical Image Computing in Bremen, Germany has pioneered a procedure that analyzes uncertainty in patient-specific images, modeling, and reconstruction and incorporates this information into reconstructions of patient data. This procedure allows safety margins around nerve tracts in the brain to be more accurately determined. In addition, the reliability of the reconstructed data is calculated to supply the surgeon with accurate information concerning nerve tract locations, paths, and intersections and to construct safety margins around the nerve fiber tracts. By integrating errors in measurement, reconstruction, and modeling, the exact locations of tracts in a space-occupying tumor are calculated. This gives the neurosurgeon a reliable prognosis concerning where the incision in the brain should be made and which safety margins should be chosen to avoid harming nerve tracts and irreversibly damaging important functional areas. Before an intervention, the surgeon can evaluate patient-specific risks. These software assistants will be refined and implemented for neuronavigation in future operations, providing the surgeon with updated information during surgery that can be compared to planning data.
The paths of nerve tracts in the brain and the functional areas that they connect can now be explored by visitors of the "New Paths in Medicine" exhibit on the MS Wissenschaft exhibition ship. The converted inland vessel is underway until September 29, 2011 and docks in 35 different cities. During the "Year of Health Research", visitors can familiarize themselves with the field's newest trends, developments, and research findings. The exhibit showcases a physical three-dimensional model of the brain produced through an innovative printing process based on the medical image data of a real person. This brain model can be touched and viewed from different angles thanks to its rotating base. Nerve tracts can be activated by touching sensors on the physical model that correspond to functional areas of the brain. The brain is displayed on a screen along with the activated nerve tracts that are responsible, for instance, for sight, speech, feeling, and motion. This new form of interactive exhibit was developed by Fraunhofer MEVIS in Bremen together with the Universum® Science Center in Bremen to demonstrate how modern image processing combined with mathematics and intelligent software can help make neurosurgical operations more predictable and safe. The three-dimensional print of the brain was produced by the Fraunhofer-Institut ITWM in Kaiserslautern.
*Source: Fraunhofer-Gesellschaft
Why does flu trigger asthma?
When children with asthma get the flu, they often land in the hospital gasping for air. Researchers at Children's Hospital Boston have found a previously unknown biological pathway explaining why influenza induces asthma attacks. Studies in a mouse model, published online May 29 by the journal Nature Immunology, reveal that influenza activates a newly recognized group of immune cells called natural helper cells – presenting a completely new set of drug targets for asthma. If activation of these cells, or their asthma-inducing secretions, could be blocked, asthmatic children could be more effectively protected when they get the flu and possibly other viral infections, says senior investigator Dale Umetsu, MD, PhD, of Children's Division of Immunology.
Although most asthma is allergic in nature, attacks triggered by viral infection tend to be what put children in the hospital, reflecting the fact that this type of asthma isn't well controlled by existing drugs.
"Virtually 100 percent of asthmatics get worse with a viral infection," says Umetsu. "We really didn't know how that happened, but now we have an explanation, at least for influenza."
Natural helper cells were first, very recently, discovered in the intestines and are recognized to play a role in fighting parasitic worm infections as part of the innate immune system (our first line of immune defense).
"Since the lung is related to the gut – both are exposed to the environment – we asked if natural helper cells might also be in the lung and be important in asthma," Umetsu says.
Subsequent experiments, led by first authors Ya-Jen Chang, PhD, and Hye Young Kim, PhD, in Umetsu's lab, showed that the cells are indeed in the lung in a mouse model of influenza-induced asthma, but not in allergic asthma. The model showed that influenza A infection stimulates production of a compound called IL-33 that activates natural helper cells, which then secrete asthma-inducing compounds.
"Without these cells being activated, infection did not cause airway hyperreactivity, the cardinal feature of asthma," Umetsu says. "Now we can start to think of this pathway as a target – IL-33, the natural helper cell itself or the factors it produces."
Personalized medicine in asthma?
The study adds to a growing understanding of asthma as a collection of different processes, all causing airways to become twitchy and constricted. "In mouse models we're finding very distinct pathways," Umetsu says.
Most asthma-control drugs, such as inhaled corticosteroids, act on the best-known pathway, which involves immune cells known as TH2 cells, and which is important in allergic asthma. However, Umetsu's team showed in 2006 that a second group of cells, known as natural killer T-cells (NKT cells), are also important in asthma, and demonstrated their presence in the lungs of asthma patients. NKT cells, they showed, can function independently of TH2 cells, for example, when asthma is induced with ozone, a major component of air pollution. Compounds targeting NKT cells are now in preclinical development.
The recognition now of a third pathway for asthma, involving natural helper cells, may reflect the diversity of triggers for asthma seen in patients.
"Clinically, we knew there were different asthma triggers, but we thought there was only one pathway for asthma," Umetsu says, adding that all of the identified pathways can coexist in one person. "We need to understand the specific asthma pathways present in each individual with asthma and when they are triggered, so we can give the right treatment at the right time."
**Source: Children's Hospital Boston
Although most asthma is allergic in nature, attacks triggered by viral infection tend to be what put children in the hospital, reflecting the fact that this type of asthma isn't well controlled by existing drugs.
"Virtually 100 percent of asthmatics get worse with a viral infection," says Umetsu. "We really didn't know how that happened, but now we have an explanation, at least for influenza."
Natural helper cells were first, very recently, discovered in the intestines and are recognized to play a role in fighting parasitic worm infections as part of the innate immune system (our first line of immune defense).
"Since the lung is related to the gut – both are exposed to the environment – we asked if natural helper cells might also be in the lung and be important in asthma," Umetsu says.
Subsequent experiments, led by first authors Ya-Jen Chang, PhD, and Hye Young Kim, PhD, in Umetsu's lab, showed that the cells are indeed in the lung in a mouse model of influenza-induced asthma, but not in allergic asthma. The model showed that influenza A infection stimulates production of a compound called IL-33 that activates natural helper cells, which then secrete asthma-inducing compounds.
"Without these cells being activated, infection did not cause airway hyperreactivity, the cardinal feature of asthma," Umetsu says. "Now we can start to think of this pathway as a target – IL-33, the natural helper cell itself or the factors it produces."
Personalized medicine in asthma?
The study adds to a growing understanding of asthma as a collection of different processes, all causing airways to become twitchy and constricted. "In mouse models we're finding very distinct pathways," Umetsu says.
Most asthma-control drugs, such as inhaled corticosteroids, act on the best-known pathway, which involves immune cells known as TH2 cells, and which is important in allergic asthma. However, Umetsu's team showed in 2006 that a second group of cells, known as natural killer T-cells (NKT cells), are also important in asthma, and demonstrated their presence in the lungs of asthma patients. NKT cells, they showed, can function independently of TH2 cells, for example, when asthma is induced with ozone, a major component of air pollution. Compounds targeting NKT cells are now in preclinical development.
The recognition now of a third pathway for asthma, involving natural helper cells, may reflect the diversity of triggers for asthma seen in patients.
"Clinically, we knew there were different asthma triggers, but we thought there was only one pathway for asthma," Umetsu says, adding that all of the identified pathways can coexist in one person. "We need to understand the specific asthma pathways present in each individual with asthma and when they are triggered, so we can give the right treatment at the right time."
**Source: Children's Hospital Boston
La Fundación Hipercolesterolemia Familiar crea un programa diagnóstico para el colesterol hereditario
Alrededor de dos millones de personas en España podrían tener altos niveles de colesterol relacionados con un componente hereditario. De ellas, casi 100.000 sufren hipercolesterolemia familiar, una afección debida a la mutación de un gen y que se manifiesta desde la infancia.
Se estima que hasta un 80% de estos pacientes no están diagnosticados en la actualidad, a pesar de que su problema puede llegar a obstriurles las arterias y provocarles una angina de pecho, un ictus o un infarto cardiaco.
La Fundación Hipercolesterolemia Familiar acaba de crear un Centro Virtual para el diagnóstico, prevención y seguimiento de esta enfermedad. La web incluye un proceso de diagnóstico previo guiado por una presentadora virtual, que realiza al usuario una serie de preguntas sobre sus niveles de colesterol, antecedentes familiares, etc.
Al final, el programa concluye si el usuario podría sufrir una hipercolesterolemia debida a causas hereditarias, en cuyo caso debería ponerse en manos de un médico. También se ofrece la posibilidad de ponerse en contacto con la propia Fundación, mientras que la web incluye información, recomendaciones y estudios científicos en torno a este problema, que puede causar enfermedad cardiovascular.
"El Centro Virtual va dirigido a la población general y a los pacientes y familiares de hipercolesterolemia", indica a ELMUNDO.es el doctor Pedro Mata, de la Fundación Hipercolesterolemia Familiar. La página web ha sido desarrollada en colaboración con el Programa Avanza, del Ministerio de Industria, y contiene también información destinada a los profesionales sanitarios.
El doctor Mata recuerda que el auto-cuidado será cada vez más importante en la medicina del futuro, por lo que considera importante poner a disposición del público herramientas como el Centro Virtual, que permitan avanzar hacia un diagnóstico que evite problemas mayores.
Casi el 5% de la población tiene hipercolesterolemia heredada, y para estas personas "es fundamental tener un diagnóstico precoz y prevenir la enfermedad cardiovascular", indica Mata. "Se calcula que, de las personas que hacen un infarto jóvenes (menos de 45 años), la mitad puede tener una hipercolesterolemia familiar. Pero, si las tratamos a tiempo, pueden tener una esperanza de vida igual al resto de la población", concluye este experto.
Se estima que hasta un 80% de estos pacientes no están diagnosticados en la actualidad, a pesar de que su problema puede llegar a obstriurles las arterias y provocarles una angina de pecho, un ictus o un infarto cardiaco.
La Fundación Hipercolesterolemia Familiar acaba de crear un Centro Virtual para el diagnóstico, prevención y seguimiento de esta enfermedad. La web incluye un proceso de diagnóstico previo guiado por una presentadora virtual, que realiza al usuario una serie de preguntas sobre sus niveles de colesterol, antecedentes familiares, etc.
Al final, el programa concluye si el usuario podría sufrir una hipercolesterolemia debida a causas hereditarias, en cuyo caso debería ponerse en manos de un médico. También se ofrece la posibilidad de ponerse en contacto con la propia Fundación, mientras que la web incluye información, recomendaciones y estudios científicos en torno a este problema, que puede causar enfermedad cardiovascular.
"El Centro Virtual va dirigido a la población general y a los pacientes y familiares de hipercolesterolemia", indica a ELMUNDO.es el doctor Pedro Mata, de la Fundación Hipercolesterolemia Familiar. La página web ha sido desarrollada en colaboración con el Programa Avanza, del Ministerio de Industria, y contiene también información destinada a los profesionales sanitarios.
El doctor Mata recuerda que el auto-cuidado será cada vez más importante en la medicina del futuro, por lo que considera importante poner a disposición del público herramientas como el Centro Virtual, que permitan avanzar hacia un diagnóstico que evite problemas mayores.
Casi el 5% de la población tiene hipercolesterolemia heredada, y para estas personas "es fundamental tener un diagnóstico precoz y prevenir la enfermedad cardiovascular", indica Mata. "Se calcula que, de las personas que hacen un infarto jóvenes (menos de 45 años), la mitad puede tener una hipercolesterolemia familiar. Pero, si las tratamos a tiempo, pueden tener una esperanza de vida igual al resto de la población", concluye este experto.
**Publicado en "EL MUNDO"
Asturias consigue disminuir un 45% las infecciones por catëteres en las UCIS
Durante la presentación de una guía sobre catéteres venosos centrales, destinada a enfermería, los responsables de Salud de Asturias han confirmado que la región ha conseguido disminuir, desde 2009, un 45 por ciento la incidencia de infecciones por catéteres en las Unidades de Cuidados Intensivos (UCI).
El consejero de Salud y Servicios Sanitarios, Ramón Quirós, y la directora gerente del Servicio de Salud del Principado de Asturias (SESPA), Elena Arias, participaron en dicha presentación, con el objetivo de aumentar la seguridad en los hospitales, a través de la protocolización en el cuidado de estos catéteres, en cuanto al manejo de los mismos y la prevención de las complicaciones. La edición de esta guía se enmarca en las estrategias de mejora de la seguridad de los pacientes, como elemento clave de la calidad asistencial, lo que fue una de las prioridades de la Salud de Asturias a lo largo de esta legislatura.
La citada reducción de infecciones supuso, para la Consejería de Salud Asturiana en los últimos años, una mejora de los indicadores de seguridad en cuanto a incidencia de bacteriemias contraídas en los hospitales, cumpliendo ampliamente las recomendaciones de la OMS y con unos índices que mejoran también la media del Sistema Nacional de Salud. Asturias está actualmente por debajo del estándar máximo de bacteriemias que recomienda la OMS y también por debajo de los datos nacionales. El estándar establecido por la OMS es de menos de cuatro episodios de bacteriemia por 1.000 días de colocación de catéter venoso central; la tasa nacional es de 2,94 y en Asturias de 2,60.La edición de esta guía se enmarca en la mejora de la seguridad de los pacientes, lo que fue una estrategia prioritaria de la Consejería de Salud a lo largo de esta legislatura, con actuaciones en materia de higiene de manos, prevención de úlceras por presión, identificación de pacientes y prevención de caídas en los centros sanitarios, entre otros programas.
El consejero de Salud y Servicios Sanitarios, Ramón Quirós, y la directora gerente del Servicio de Salud del Principado de Asturias (SESPA), Elena Arias, participaron en dicha presentación, con el objetivo de aumentar la seguridad en los hospitales, a través de la protocolización en el cuidado de estos catéteres, en cuanto al manejo de los mismos y la prevención de las complicaciones. La edición de esta guía se enmarca en las estrategias de mejora de la seguridad de los pacientes, como elemento clave de la calidad asistencial, lo que fue una de las prioridades de la Salud de Asturias a lo largo de esta legislatura.
La citada reducción de infecciones supuso, para la Consejería de Salud Asturiana en los últimos años, una mejora de los indicadores de seguridad en cuanto a incidencia de bacteriemias contraídas en los hospitales, cumpliendo ampliamente las recomendaciones de la OMS y con unos índices que mejoran también la media del Sistema Nacional de Salud. Asturias está actualmente por debajo del estándar máximo de bacteriemias que recomienda la OMS y también por debajo de los datos nacionales. El estándar establecido por la OMS es de menos de cuatro episodios de bacteriemia por 1.000 días de colocación de catéter venoso central; la tasa nacional es de 2,94 y en Asturias de 2,60.La edición de esta guía se enmarca en la mejora de la seguridad de los pacientes, lo que fue una estrategia prioritaria de la Consejería de Salud a lo largo de esta legislatura, con actuaciones en materia de higiene de manos, prevención de úlceras por presión, identificación de pacientes y prevención de caídas en los centros sanitarios, entre otros programas.
New study about lipids (fatty molecules) in the blood plasma
Studying the genetic make-up of different varieties of lipids (fatty molecules) in the blood plasma of an individual can lead to a better and earlier prediction of diseases such as diabetes, atherosclerosis, and heart disease, two researchers will tell the annual conference of the European Society of Human Genetics today (Monday 30 May). In the first study, Dr. Joanne Curran from the Texas Biomedical Research Institute, San Antonio, USA, will tell the conference that lipidomic profiling will become a more reliable early indicator of individuals likely to develop diabetes than the more commonly used predictors such as blood glucose and insulin levels.
Dr. Curran and colleagues from the US and Australia measured 356 different lipid varieties from about 1100 Mexican American members of large extended families who were part of the San Antonio Family Heart Study. The Mexican American population is at high risk of diabetes with about 25% of this population ultimately becoming diabetic. At the start of the research, 861 of the individuals studied did not have diabetes. However, over the 10 year follow-up examined in the study, 110 individuals did develop the disease.
The scientists were able to isolate 128 different varieties of lipids that predicted the progression to diabetes by measuring the the lipidomic profiles of each individual at multiple timepoints during the follow-up period. "The single best predictor we found was a novel component called dihydroceramide (dhCer). This was substantially increased in people with diabetes. It is also heritable, and appears to be an independent risk factor unconnected to blood sugar and insulin levels," says Dr. Curran.
After uncovering the link between dhCer and diabetes, the team searched the genome to find locations that harboured genes that influence dhCer levels. They identified a region on chromosome 3 that appeared to contain a gene with substantial importance for the production of dhCer. "Through whole genome sequencing, we are now attempting to identify this causal gene in the hope that it will be informative in the understanding of the pathogenesis of diabetes, and also suggest new avenues for treatment," Dr. Curran says.
In the future, the researchers say, measurement of dhCer levels could become routine in the prediction of individuals likely to become diabetic. One of the difficulties of the current predictive methods is that they do not function until a patient is near to developing the disease. Being able to identify those at risk at the earliest stage would mean that individuals have plenty of time to make the lifestyle changes that could help them avoid the disease – through a change in diet, or increasing physical activity, for example.
"Currently one in ten US adults suffers from diabetes and recently the Centers for Disease Control has predicted that this will increase to one in three by 2050", says Dr. Curran. "We are optimistic that our discovery will lead to new treatments, but in the short-term the importance of finding out at an early stage whether any individual is likely to develop it cannot be overstated. A test based on dhCer levels will help to avoid the serious health effects that diabetes has in its own right, such as kidney failure, amputations, and blindness. It is, of course, also a risk for cardiovascular disease, so the health burden of this condition is enormous", she concludes.
In the second study, Dr. Sara Willems, from the Erasmus Medical Centre, Rotterdam, The Netherlands, will describe to the conference research carried out on the influence of common genetic lipid variants on atherosclerosis and related heart disease. "A recent genome-wide meta-analysis of more than 100,000 individuals identified a large number of genetic variants associated with levels of LDL (bad) cholesterol, HDL (good) cholesterol and triglycerides. These molecules are, at increased levels of LDL and triglycerides and decreased levels of HDL, important risk factors for cardiovascular disease", says Dr. Willems.
The researchers used risk scores from these genetic variants to test the hypothesis that their cumulative effects were associated with cardiovascular disease. For this purpose they used genetic data from more than 8000 individuals from the population-based Rotterdam Study and more than 2000 individuals participating in the Dutch family-based Erasmus Rucphen Family study.
They found an association between the LDL risk score and arterial wall thickness, and a strong association of this risk score with carotid plaque. These conditions can cause arterial blockage which leads to stroke. The same risk score was also associated with coronary heart disease.
"Our findings show that an accumulation of common genetic variants with small effects on lipid levels can have a significant effect on clinical and sub-clinical outcomes", says Dr. Aaron Isaacs, who led the project. "In the future, as our knowledge of genetic variation increases, effective pre-clinical genetic screening tools may be able to enhance the prediction and prevention of diseases such as cardiovascular disease."
New genetic variants influencing lipid levels are being identified all the time, the researchers say. "As new variants are discovered, we would like to be able to continue to test them, both singly and combined, for association with cardiovascular disease. The cost of these diseases to individuals, families, society and healthcare systems is immense", says Dr. Willems.
"Cardiovascular disease is the main cause of death in Europe, killing over 4 million people per year. It also represents 23% of the total disease burden (illness and death) across the continent. Managing cholesterol levels is important for prevention. This can be done early in life by effective treatment. We hope that our study, showing that common genetic variants play an important role in the occurrence of cardiovascular disease, marks a starting point for early prediction and prevention and may thus reduce the burden of disease," she concludes.
Dr. Curran and colleagues from the US and Australia measured 356 different lipid varieties from about 1100 Mexican American members of large extended families who were part of the San Antonio Family Heart Study. The Mexican American population is at high risk of diabetes with about 25% of this population ultimately becoming diabetic. At the start of the research, 861 of the individuals studied did not have diabetes. However, over the 10 year follow-up examined in the study, 110 individuals did develop the disease.
The scientists were able to isolate 128 different varieties of lipids that predicted the progression to diabetes by measuring the the lipidomic profiles of each individual at multiple timepoints during the follow-up period. "The single best predictor we found was a novel component called dihydroceramide (dhCer). This was substantially increased in people with diabetes. It is also heritable, and appears to be an independent risk factor unconnected to blood sugar and insulin levels," says Dr. Curran.
After uncovering the link between dhCer and diabetes, the team searched the genome to find locations that harboured genes that influence dhCer levels. They identified a region on chromosome 3 that appeared to contain a gene with substantial importance for the production of dhCer. "Through whole genome sequencing, we are now attempting to identify this causal gene in the hope that it will be informative in the understanding of the pathogenesis of diabetes, and also suggest new avenues for treatment," Dr. Curran says.
In the future, the researchers say, measurement of dhCer levels could become routine in the prediction of individuals likely to become diabetic. One of the difficulties of the current predictive methods is that they do not function until a patient is near to developing the disease. Being able to identify those at risk at the earliest stage would mean that individuals have plenty of time to make the lifestyle changes that could help them avoid the disease – through a change in diet, or increasing physical activity, for example.
"Currently one in ten US adults suffers from diabetes and recently the Centers for Disease Control has predicted that this will increase to one in three by 2050", says Dr. Curran. "We are optimistic that our discovery will lead to new treatments, but in the short-term the importance of finding out at an early stage whether any individual is likely to develop it cannot be overstated. A test based on dhCer levels will help to avoid the serious health effects that diabetes has in its own right, such as kidney failure, amputations, and blindness. It is, of course, also a risk for cardiovascular disease, so the health burden of this condition is enormous", she concludes.
In the second study, Dr. Sara Willems, from the Erasmus Medical Centre, Rotterdam, The Netherlands, will describe to the conference research carried out on the influence of common genetic lipid variants on atherosclerosis and related heart disease. "A recent genome-wide meta-analysis of more than 100,000 individuals identified a large number of genetic variants associated with levels of LDL (bad) cholesterol, HDL (good) cholesterol and triglycerides. These molecules are, at increased levels of LDL and triglycerides and decreased levels of HDL, important risk factors for cardiovascular disease", says Dr. Willems.
The researchers used risk scores from these genetic variants to test the hypothesis that their cumulative effects were associated with cardiovascular disease. For this purpose they used genetic data from more than 8000 individuals from the population-based Rotterdam Study and more than 2000 individuals participating in the Dutch family-based Erasmus Rucphen Family study.
They found an association between the LDL risk score and arterial wall thickness, and a strong association of this risk score with carotid plaque. These conditions can cause arterial blockage which leads to stroke. The same risk score was also associated with coronary heart disease.
"Our findings show that an accumulation of common genetic variants with small effects on lipid levels can have a significant effect on clinical and sub-clinical outcomes", says Dr. Aaron Isaacs, who led the project. "In the future, as our knowledge of genetic variation increases, effective pre-clinical genetic screening tools may be able to enhance the prediction and prevention of diseases such as cardiovascular disease."
New genetic variants influencing lipid levels are being identified all the time, the researchers say. "As new variants are discovered, we would like to be able to continue to test them, both singly and combined, for association with cardiovascular disease. The cost of these diseases to individuals, families, society and healthcare systems is immense", says Dr. Willems.
"Cardiovascular disease is the main cause of death in Europe, killing over 4 million people per year. It also represents 23% of the total disease burden (illness and death) across the continent. Managing cholesterol levels is important for prevention. This can be done early in life by effective treatment. We hope that our study, showing that common genetic variants play an important role in the occurrence of cardiovascular disease, marks a starting point for early prediction and prevention and may thus reduce the burden of disease," she concludes.
29 May 2011
New treatment dissolves blood clots in brain tissue
A new treatment that treats a subset of stroke patients by combining minimally invasive surgery, an imaging technique likened to "GPS for the brain," and the clot-busting drug t-PA appears to be safe and effective, according to a multicenter clinical trial led by Johns Hopkins researchers. The novel treatment, detailed for the first time at this week's European Stroke Conference in Hamburg, Germany, was developed for patients with intracerebral hemorrhage (ICH), a bleed in the brain that causes a clot to form within brain tissue. This clot builds up pressure and leaches inflammatory chemicals that can cause irreversible brain damage, often leading to death or extreme disability. The usual treatments for ICH—either general supportive care such as blood pressure control and ventilation, which is considered the current standard of care, or invasive surgeries that involve taking off portions of the skull to remove the clot—have similar mortality rates, ranging from 30 to 80 percent depending on the size of the clot.
Seeking to improve these mortality rates and surviving ICH patients' quality of life, Daniel Hanley, M.D., professor of neurology at the Johns Hopkins University School of Medicine, and his colleagues developed and tested the new treatment on 60 patients at 12 hospitals in the United States, Canada, the United Kingdom and Germany. They compared their results to those of 11 patients who received only supportive care.
After neurologists diagnosed patients in the treatment group with ICH at these hospitals, surgeons drilled dime-sized holes in patients' skulls close to the clot location. Using high-tech neuro-navigational software that provides detailed brain images, the physicians threaded catheters through the holes and directly into the clots. They used these catheters to drip t-PA into the clot for up to three days at one of two doses, either 0.3 mg or 1 mg, every eight hours.
The researchers found that clot size in patients treated with either dose shrunk by more than half, compared to only 1 percent in patients who received only supportive care. Comparison of daily CT scans showed that patients in the treatment group whose catheters were most accurately placed through the longest part of the clot had the most effective clot size reduction.
Those in the treatment group and the supportive care group had about a 10 percent mortality rate at 30 days after treatment, lower than the typically high mortality rates expected for this condition. After following the patients out for six months, the researchers found that the treated patients scored significantly higher on a test that measures the ability to function in daily life compared to those who received supportive care.
Overall, Hanley says, the new treatment appears to be a viable and promising alternative to the current standard treatments of supportive care or invasive surgery.
"We're confirming that patients do recover better if we remove as much of the clot as we can, but gentle removal appears to be key," he says. "Reducing the clot's size with a minimally invasive method seems to be pivotal for optimizing patient recovery."
Hanley and his colleagues plan to continue investigating the treatment in a larger multicenter trial.
**Source: Johns Hopkins Medical Institutions
Seeking to improve these mortality rates and surviving ICH patients' quality of life, Daniel Hanley, M.D., professor of neurology at the Johns Hopkins University School of Medicine, and his colleagues developed and tested the new treatment on 60 patients at 12 hospitals in the United States, Canada, the United Kingdom and Germany. They compared their results to those of 11 patients who received only supportive care.
After neurologists diagnosed patients in the treatment group with ICH at these hospitals, surgeons drilled dime-sized holes in patients' skulls close to the clot location. Using high-tech neuro-navigational software that provides detailed brain images, the physicians threaded catheters through the holes and directly into the clots. They used these catheters to drip t-PA into the clot for up to three days at one of two doses, either 0.3 mg or 1 mg, every eight hours.
The researchers found that clot size in patients treated with either dose shrunk by more than half, compared to only 1 percent in patients who received only supportive care. Comparison of daily CT scans showed that patients in the treatment group whose catheters were most accurately placed through the longest part of the clot had the most effective clot size reduction.
Those in the treatment group and the supportive care group had about a 10 percent mortality rate at 30 days after treatment, lower than the typically high mortality rates expected for this condition. After following the patients out for six months, the researchers found that the treated patients scored significantly higher on a test that measures the ability to function in daily life compared to those who received supportive care.
Overall, Hanley says, the new treatment appears to be a viable and promising alternative to the current standard treatments of supportive care or invasive surgery.
"We're confirming that patients do recover better if we remove as much of the clot as we can, but gentle removal appears to be key," he says. "Reducing the clot's size with a minimally invasive method seems to be pivotal for optimizing patient recovery."
Hanley and his colleagues plan to continue investigating the treatment in a larger multicenter trial.
**Source: Johns Hopkins Medical Institutions
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