La ciencia borrada del enunciado de los ministerios en el Gobierno de Rajoy, los fuertes recortes presupuestarios anunciados en I+D [600 millones este año] y la situación laboral de los investigadores son indicadores de la clara línea oficial de que “la ciencia no es una prioridad en España”, escribe la astrofísica Amaya Moro Martín en un artículo que recoge la prestigiosa revista Nature. El título no puede ser más expresivo: Los cambios en España son un suicidio científico.
Moro –Martín, investigadora del programa Ramón y Cajal, explica que, por primera ven en España, ni ciencia ni investigación aparecen en la denominación de algún ministerio y considera que no se trata de un mero cambio simbólico sino que “sigue la tendencia del país de minar deliberadamente la ciencia y restarle importancia”. La crisis económica y las medidas de austeridad necesarias no justifican, en su opinión, las actuaciones del Gobierno, que causan un daño a largo plazo en la infraestructura científica y envían un mensaje contradictorio a otros países y a los inversores.
El daño arrancó con el Gobierno anterior, considera Amaya Moro-Martín
Pero el daño no es nuevo, sino que arrancó con el Gobierno anterior, con recortes drásticos en la financiación de la I+D y el incumplimiento de los compromisos sobre la restructuración de la carrera científica que no cuajaron en la Ley de la Ciencia, la Tecnología y la Innovación, aprobada en mayo del año pasado. Moro-Marín cuenta que las perspectivas actuales son tan desalentadoras que algunos científicos actualmente en el extranjero están rechazando contratos Ramón y Cajal para regresar a trabajar en España.
La congelación de las convocatorias de investigadores en las instituciones públicas es otro factor muy negativo, destaca Moro-Marín. Con el panorama actual, los científicos de entre 20 y 40 años no tendrán más remedio que irse [a otro país] si quieren continuar sus carreras”, escribe.
El hecho de que ni el Congreso ni el Senado hayan constituido las comisiones respectivas de ciencia y tecnología es otra deficiencia notable. La investigadora pide que se ponga en marcha con carácter de urgencia la Agencia de Investigación contemplada en la nueva ley y con un presupuesto multianual que confiera a la ciencia estabilidad y capacidad de planificación a medio y largo plazo, sin fluctuaciones.
Moro-Martín reclama en su artículo en Nature que el esfuerzo español en I+D, actualmente situado en el 1,39% de su PIB, debe ponerse en línea con la media europea del 2% y acercarse al objetivo del 3% fijado en la Estrategia de Lisboa para 2010.
**Publicado en "EL PAIS"
Diario digital con noticias de actualidad relacionadas con el mundo de la salud. Novedades, encuestas, estudios, informes, entrevistas. Con un sencillo lenguaje dirigido a todo el mundo. Y algunos consejos turísticos para pasarlo bien
Traductor
16 February 2012
Mayo Clinic: Hospitalization of US underage drinkers common, costs $755 million a year
Hospitalization for underage drinking is common in the United States, and it comes with a price tag -- the estimated total cost for these hospitalizations is about $755 million per year, a Mayo Clinic study has found. Researchers also found geographic and demographic differences in the incidence of alcohol-related hospital admissions. The findings were recently published online in the Journal of Adolescent Health. Of the roughly 40,000 youth ages 15 to 20 hospitalized in 2008, the most recent data available, 79 percent were drunk when they arrived at the hospital, researchers say. Alcohol abuse and addiction and drinking-related emotional problems were among the diagnoses.
Among all U.S. teens, roughly 18 of every 10,000 adolescent males and 12 of every 10,000 females were hospitalized after consuming alcohol in the year studied. In all, 700,000 young people in that age group were hospitalized for various reasons, including non-alcohol-related conditions, in 2008.
"When teenagers drink, they tend to drink excessively, leading to many destructive consequences including motor vehicle accidents, injuries, homicides and suicides," says researcher Terry Schneekloth, M.D., a Mayo Clinic addiction expert and psychiatrist.
Underage drinking is common in the United States: 36-71 percent of high-school students report having consumed alcohol at least once, although the prevalence of heavy drinking (more than five drinks in a row within the preceding two weeks) is lower (7-23 percent).
"Alcohol use necessitating acute-care hospitalization represents one of the most serious consequences of underage drinking," Dr. Schneekloth says. "Harmful alcohol use in adolescence is a harbinger of alcohol abuse in adulthood."
The average age of those with alcohol-related discharges was 18; 61 percent were male. Nearly a quarter of the alcohol-use disorder hospitalizations included an injury, most commonly traffic accidents, assaults and altercations.
The analysis used the most recent (2008) Nationwide Inpatient Sample data, the largest all-payer inpatient care database in the United States. It is approximately a 20 percent stratified sample of all U.S. hospitals, accounting for about 90 percent of all discharges in the United States. To calculate the incidence rate of hospitalizations, researchers took population denominator data from the U.S. Census Bureau for 2008.
For adolescent males and females, hospitalization incidence was highest in the Northeast and Midwest, lowest in the South, and intermediate in the West. On multivariable analysis, older age and male gender were associated with alcohol-use disorder hospitalizations. In general, black Americans had lower hospitalization rates than whites, and Hispanics and Asian/Pacific Islanders had the lowest rates. The rates tended to be highest for Native and other/mixed-race Americans; however, the number of hospitalizations was relatively small, making estimates imprecise. The findings may help target substance abuse prevention efforts toward geographic and demographic groups at greatest risk.
Much of the hospitalization cost ($505 million) involved treatment of injuries. A total of 107 of those hospitalized died (.27 percent): Their age was 18.6 years, and 82 percent were male. Seventy-three percent of the deaths occurred during a hospitalization for injuries.
*Source: Mayo Clinic
Among all U.S. teens, roughly 18 of every 10,000 adolescent males and 12 of every 10,000 females were hospitalized after consuming alcohol in the year studied. In all, 700,000 young people in that age group were hospitalized for various reasons, including non-alcohol-related conditions, in 2008.
"When teenagers drink, they tend to drink excessively, leading to many destructive consequences including motor vehicle accidents, injuries, homicides and suicides," says researcher Terry Schneekloth, M.D., a Mayo Clinic addiction expert and psychiatrist.
Underage drinking is common in the United States: 36-71 percent of high-school students report having consumed alcohol at least once, although the prevalence of heavy drinking (more than five drinks in a row within the preceding two weeks) is lower (7-23 percent).
"Alcohol use necessitating acute-care hospitalization represents one of the most serious consequences of underage drinking," Dr. Schneekloth says. "Harmful alcohol use in adolescence is a harbinger of alcohol abuse in adulthood."
The average age of those with alcohol-related discharges was 18; 61 percent were male. Nearly a quarter of the alcohol-use disorder hospitalizations included an injury, most commonly traffic accidents, assaults and altercations.
The analysis used the most recent (2008) Nationwide Inpatient Sample data, the largest all-payer inpatient care database in the United States. It is approximately a 20 percent stratified sample of all U.S. hospitals, accounting for about 90 percent of all discharges in the United States. To calculate the incidence rate of hospitalizations, researchers took population denominator data from the U.S. Census Bureau for 2008.
For adolescent males and females, hospitalization incidence was highest in the Northeast and Midwest, lowest in the South, and intermediate in the West. On multivariable analysis, older age and male gender were associated with alcohol-use disorder hospitalizations. In general, black Americans had lower hospitalization rates than whites, and Hispanics and Asian/Pacific Islanders had the lowest rates. The rates tended to be highest for Native and other/mixed-race Americans; however, the number of hospitalizations was relatively small, making estimates imprecise. The findings may help target substance abuse prevention efforts toward geographic and demographic groups at greatest risk.
Much of the hospitalization cost ($505 million) involved treatment of injuries. A total of 107 of those hospitalized died (.27 percent): Their age was 18.6 years, and 82 percent were male. Seventy-three percent of the deaths occurred during a hospitalization for injuries.
*Source: Mayo Clinic
Drinking alcohol shrinks critical brain regions in genetically vulnerable mice
Brain scans of two strains of mice imbibing significant quantities of alcohol reveal serious shrinkage in some brain regions -- but only in mice lacking a particular type of receptor for dopamine, the brain's "reward" chemical. The study, conducted at the U.S. Department of Energy's Brookhaven National Laboratory and published in the May 2012 issue of Alcoholism: Clinical and Experimental Research, now online, provides new evidence that these dopamine receptors, known as DRD2, may play a protective role against alcohol-induced brain damage. "This study clearly demonstrates the interplay of genetic and environmental factors in determining the damaging effects of alcohol on the brain, and builds upon our previous findings suggesting a protective role of dopamine D2 receptors against alcohol's addictive effects," said study author Foteini Delis, a neuroanatomist with the Behavioral Neuropharmacology and Neuroimaging Lab at Brookhaven, which is funded through the National Institute on Alcohol Abuse and Alcoholism (NIAAA). Coauthor and Brookhaven/NIAA neuroscientist Peter Thanos stated that, "These studies should help us better understand the role of genetic variability in alcoholism and alcohol-induced brain damage in people, and point the way to more effective prevention and treatment strategies."
The current study specifically explored how alcohol consumption affects brain volume -- overall and region-by-region -- in normal mice and a strain of mice that lack the gene for dopamine D2 receptors. Half of each group drank plain water while the other half drank a 20 percent ethanol solution for six months. Then scientists performed magnetic resonance imaging (MRI) scans on all the mice and compared the scans of those drinking alcohol with those from the water drinkers in each group.
The scans showed that chronic alcohol drinking induced significant overall brain atrophy and specific shrinkage of the cerebral cortex and thalamus in the mice that lacked dopamine D2 receptors, but not in mice with normal receptor levels. Mice in both groups drank the same amount of alcohol.
"This pattern of brain damage mimics a unique aspect of brain pathology observed in human alcoholics, so this research extends the validity of using these mice as a model for studying human alcoholism," Thanos said.
In humans, these brain regions are critically important for processing speech, sensory information, and motor signals, and for forming long-term memories. So this research helps explain why alcohol damage can be so widespread and detrimental.
"The fact that only mice that lacked dopamine D2 receptors experienced brain damage in this study suggests that DRD2 may be protective against brain atrophy from chronic alcohol exposure," Thanos said. "Conversely, the findings imply that lower-than-normal levels of DRD2 may make individuals more vulnerable to the damaging effects of alcohol."
That would in effect deal people with low DRD2 levels a double whammy of alcohol vulnerability: Previous studies conducted by Thanos and collaborators suggest that individuals with low DRD2 levels may be more susceptible to alcohol's addictive effects.
"The increased addictive liability and the potentially devastating increased susceptibility to alcohol toxicity resulting from low DRD2 levels make it clear that the dopamine system is an important target for further research in the search for better understanding and treatment of alcoholism," Thanos said.
This research was supported by NIAAA.
*Source: DOE/Brookhaven National Laboratory
The current study specifically explored how alcohol consumption affects brain volume -- overall and region-by-region -- in normal mice and a strain of mice that lack the gene for dopamine D2 receptors. Half of each group drank plain water while the other half drank a 20 percent ethanol solution for six months. Then scientists performed magnetic resonance imaging (MRI) scans on all the mice and compared the scans of those drinking alcohol with those from the water drinkers in each group.
The scans showed that chronic alcohol drinking induced significant overall brain atrophy and specific shrinkage of the cerebral cortex and thalamus in the mice that lacked dopamine D2 receptors, but not in mice with normal receptor levels. Mice in both groups drank the same amount of alcohol.
"This pattern of brain damage mimics a unique aspect of brain pathology observed in human alcoholics, so this research extends the validity of using these mice as a model for studying human alcoholism," Thanos said.
In humans, these brain regions are critically important for processing speech, sensory information, and motor signals, and for forming long-term memories. So this research helps explain why alcohol damage can be so widespread and detrimental.
"The fact that only mice that lacked dopamine D2 receptors experienced brain damage in this study suggests that DRD2 may be protective against brain atrophy from chronic alcohol exposure," Thanos said. "Conversely, the findings imply that lower-than-normal levels of DRD2 may make individuals more vulnerable to the damaging effects of alcohol."
That would in effect deal people with low DRD2 levels a double whammy of alcohol vulnerability: Previous studies conducted by Thanos and collaborators suggest that individuals with low DRD2 levels may be more susceptible to alcohol's addictive effects.
"The increased addictive liability and the potentially devastating increased susceptibility to alcohol toxicity resulting from low DRD2 levels make it clear that the dopamine system is an important target for further research in the search for better understanding and treatment of alcoholism," Thanos said.
This research was supported by NIAAA.
*Source: DOE/Brookhaven National Laboratory
Smoking cessation aide shows promise as alcoholism treatment
A medication commonly used to help people stop smoking may have an unanticipated positive side effect for an entirely different vice: drinking alcohol. A new study by University of Chicago researchers finds that varenicline, sold as Chantix, increases the negative effects of alcohol and therefore could hold promise as a treatment for alcoholism. A group of heavy-to-moderate social drinkers given a single dose varenicline three hours before an alcoholic beverage reported increased dysphoria and reduced "liking," even when researchers controlled for the effects of nausea from the drug. Those effects upon the subjective response to alcohol could reduce drinking in people prone to bingeing and other forms of abuse.
"We found that varenicline increased the unpleasant effects of alcohol and decreased drug liking," said Emma Childs, PhD, research associate at the University of Chicago Medicine and first author of the study published in Alcoholism: Clinical and Experimental Research. "Thus, we think that varenicline may reduce drinking by altering the effects of alcohol."
Some patients prescribed Chantix to quit smoking have anecdotally reported a reduction in consumption of alcohol as well, and controlled studies in animals and humans have supported the effect. Researchers are now looking for neurobiological mechanisms that connect varenicline, a partial agonist of the brain's nicotinic receptors, with reduced alcohol craving or consumption.
"Smokers who use varenicline are approximately two to three times more likely to remain abstinent six months or more after their quit date," said Childs. "After it was approved, several patients treated with varenicline also reported reductions in their drinking, so investigators began to assess if this was an actual effect and how it might be produced."
The new experiment is the first to look at the acute effects of a single dose of varenicline on the subjective response to a subsequent alcoholic drink. Subjects were recruited based on heavy drinking behavior, not smoking behavior -- though the recruits did smoke 4 cigarettes a day on average.
15 subjects (8 men and 7 women) were brought to the laboratory for six different sessions. On each day, the subject received either a varenicline or placebo capsule, and then three hours later was given a drink containing 0, 0.4, or 0.8 mg/kg alcohol. Researchers monitored the effects of the drink on cardiovascular and eye movement measures, and subjects filled out questionnaires to report the subjective effects of the drink.
Compared to sessions where the subjects received a placebo pill, varenicline increased nausea, heart rate, blood pressure. After an alcoholic drink, self-reported dysphoria was increased while alcohol effects on subconscious eye movements (a measure of the drugs' objective effects) were reduced. Even after controlling for the effect of nausea upon the subsequent response to a drink, the increased dysphoria and reduced "drug liking" after drinking alcohol remained significant.
By increasing the negative effects of alcohol, varenicline might be most effective in people who are unable to stop consuming alcohol after only one drink, Childs said.
"Our findings shed light on the mechanism underlying why people consume less alcohol when they have taken varenicline," said Childs. "The pleasurable effects of alcohol, for example feeling 'buzzed' and talkative, are associated with greater consumption and binge drinking. Some people lose control of their alcohol consumption during a drinking episode, for example they may aim to only have one or two drinks but end up drinking say four or five. If varenicline counteracts these positive effects by producing unpleasant effects, then as a result people may consume less alcohol during a drinking episode."
The authors cautioned that their study only examined the acute effect of a single dose of varenicline, rather than the sustained exposure experienced with regular use of the drug. But because the effectiveness of varenicline has already been proven as a smoking cessation drug, the unanticipated effects on drinking may make people struggling with both behaviors a logical first target.
"Varenicline may find a nice niche in those individuals who are both nicotine and alcohol dependent, who we know represent a large portion of alcohol-dependent individuals," added Hugh Myrick, associate professor of psychiatry at the Medical University of South Carolina, who was not involved in the study. "Since there is a high comorbidity between nicotine and alcohol dependence, a single medication that could decrease the use of both substances would be ideal."
*Source: University of Chicago Medical Center
"We found that varenicline increased the unpleasant effects of alcohol and decreased drug liking," said Emma Childs, PhD, research associate at the University of Chicago Medicine and first author of the study published in Alcoholism: Clinical and Experimental Research. "Thus, we think that varenicline may reduce drinking by altering the effects of alcohol."
Some patients prescribed Chantix to quit smoking have anecdotally reported a reduction in consumption of alcohol as well, and controlled studies in animals and humans have supported the effect. Researchers are now looking for neurobiological mechanisms that connect varenicline, a partial agonist of the brain's nicotinic receptors, with reduced alcohol craving or consumption.
"Smokers who use varenicline are approximately two to three times more likely to remain abstinent six months or more after their quit date," said Childs. "After it was approved, several patients treated with varenicline also reported reductions in their drinking, so investigators began to assess if this was an actual effect and how it might be produced."
The new experiment is the first to look at the acute effects of a single dose of varenicline on the subjective response to a subsequent alcoholic drink. Subjects were recruited based on heavy drinking behavior, not smoking behavior -- though the recruits did smoke 4 cigarettes a day on average.
15 subjects (8 men and 7 women) were brought to the laboratory for six different sessions. On each day, the subject received either a varenicline or placebo capsule, and then three hours later was given a drink containing 0, 0.4, or 0.8 mg/kg alcohol. Researchers monitored the effects of the drink on cardiovascular and eye movement measures, and subjects filled out questionnaires to report the subjective effects of the drink.
Compared to sessions where the subjects received a placebo pill, varenicline increased nausea, heart rate, blood pressure. After an alcoholic drink, self-reported dysphoria was increased while alcohol effects on subconscious eye movements (a measure of the drugs' objective effects) were reduced. Even after controlling for the effect of nausea upon the subsequent response to a drink, the increased dysphoria and reduced "drug liking" after drinking alcohol remained significant.
By increasing the negative effects of alcohol, varenicline might be most effective in people who are unable to stop consuming alcohol after only one drink, Childs said.
"Our findings shed light on the mechanism underlying why people consume less alcohol when they have taken varenicline," said Childs. "The pleasurable effects of alcohol, for example feeling 'buzzed' and talkative, are associated with greater consumption and binge drinking. Some people lose control of their alcohol consumption during a drinking episode, for example they may aim to only have one or two drinks but end up drinking say four or five. If varenicline counteracts these positive effects by producing unpleasant effects, then as a result people may consume less alcohol during a drinking episode."
The authors cautioned that their study only examined the acute effect of a single dose of varenicline, rather than the sustained exposure experienced with regular use of the drug. But because the effectiveness of varenicline has already been proven as a smoking cessation drug, the unanticipated effects on drinking may make people struggling with both behaviors a logical first target.
"Varenicline may find a nice niche in those individuals who are both nicotine and alcohol dependent, who we know represent a large portion of alcohol-dependent individuals," added Hugh Myrick, associate professor of psychiatry at the Medical University of South Carolina, who was not involved in the study. "Since there is a high comorbidity between nicotine and alcohol dependence, a single medication that could decrease the use of both substances would be ideal."
*Source: University of Chicago Medical Center
Tener mascota ayuda a cumplir las recomendaciones de ejercicio diario en las embarazadas
Las embarazadas que tienen perro hacen más ejercicio. Según un estudio publicado en la revista 'PLoS One', cumplen con los 30 minutos diarios recomendados en un 50% más que las mujeres que no tienen mascota. Dados los beneficios de esta práctica sobre la salud, los investigadores proponen incluir esta forma de paseo en compañía como estrategia para mejorar los hábitos de las gestantes.
Como argumentan los autores del artículo, de la Universidad de Liverpool (Reino Unido), numerosos estudios demuestran que "la obesidad o una subida importante de peso durante el embarazo puede afectar tanto a la madre como al bebé. Por ejemplo, podría ocasionar dificultades en el nacimiento o tener implicaciones en el desarrollo de una futura obesidad del niño".
Según Jackie Calleja, ginecólogo del Hospital Universitario Quirón Madrid, se sabe que "la actividad sedentaria junto a una dieta poco equilibrada y sobrepeso son factores de riesgo para desarrollar enfermedades que aparecen en el segundo y tercer trimestre de la gestación, como la preeclampsia, la diabetes gestacional, fatiga...".
Por estas razones, recalcan los expertos del estudio británico, los médicos hacen un seguimiento constante del peso y aconsejan realizar ejercicio diario. El ginecólogo español da algunas pistas: "Conviene hacer ejercicio, no deporte, aeróbico entre 30 y 40 minutos tres o cuatro días a la semana. Yoga, pilates, jogging, natación para embarazadas, pasear en bicicleta, caminar. Lo importante es que la embarazada esté activa y se mueva a un ritmo normal, a una intensidad media. Por ejemplo, en media hora pasear unos dos kilómetros".
Normalmente, las gestantes optan por caminar, señala Carri Westgarth, uno de los autores de la investigación. "Aunque ya se había demostrado que tener perro aumenta la actividad física en los adultos en general, este es el primer estudio que valora esta relación en las embarazadas", agrega.
Y la respuesta es afirmativa. Después de analizar a más de 11.000 gestantes, "observamos que tener uno o más perros les ayuda a alcanzar los 150 minutos de ejercicio recomendado a la semana". Los resultados muestran que tener mascota es una motivación y "obliga a mantener actividad física diaria", ya que supone un compromiso con el cuidado del animal. Sin embargo, aclaran los investigadores, no se puede decir que la compañía de un perro esté relacionada con menor peso durante la gestación. Lo que sí se puede decir es que ayuda a promover el ejercicio durante esta etapa, por lo que convendría "estudiar cómo puede incluirse como estrategia de salud y analizar qué tipo son las más adecuadas", entre otros factores.
**publicado en "EL MUNDO"
Como argumentan los autores del artículo, de la Universidad de Liverpool (Reino Unido), numerosos estudios demuestran que "la obesidad o una subida importante de peso durante el embarazo puede afectar tanto a la madre como al bebé. Por ejemplo, podría ocasionar dificultades en el nacimiento o tener implicaciones en el desarrollo de una futura obesidad del niño".
Según Jackie Calleja, ginecólogo del Hospital Universitario Quirón Madrid, se sabe que "la actividad sedentaria junto a una dieta poco equilibrada y sobrepeso son factores de riesgo para desarrollar enfermedades que aparecen en el segundo y tercer trimestre de la gestación, como la preeclampsia, la diabetes gestacional, fatiga...".
Por estas razones, recalcan los expertos del estudio británico, los médicos hacen un seguimiento constante del peso y aconsejan realizar ejercicio diario. El ginecólogo español da algunas pistas: "Conviene hacer ejercicio, no deporte, aeróbico entre 30 y 40 minutos tres o cuatro días a la semana. Yoga, pilates, jogging, natación para embarazadas, pasear en bicicleta, caminar. Lo importante es que la embarazada esté activa y se mueva a un ritmo normal, a una intensidad media. Por ejemplo, en media hora pasear unos dos kilómetros".
Normalmente, las gestantes optan por caminar, señala Carri Westgarth, uno de los autores de la investigación. "Aunque ya se había demostrado que tener perro aumenta la actividad física en los adultos en general, este es el primer estudio que valora esta relación en las embarazadas", agrega.
Y la respuesta es afirmativa. Después de analizar a más de 11.000 gestantes, "observamos que tener uno o más perros les ayuda a alcanzar los 150 minutos de ejercicio recomendado a la semana". Los resultados muestran que tener mascota es una motivación y "obliga a mantener actividad física diaria", ya que supone un compromiso con el cuidado del animal. Sin embargo, aclaran los investigadores, no se puede decir que la compañía de un perro esté relacionada con menor peso durante la gestación. Lo que sí se puede decir es que ayuda a promover el ejercicio durante esta etapa, por lo que convendría "estudiar cómo puede incluirse como estrategia de salud y analizar qué tipo son las más adecuadas", entre otros factores.
**publicado en "EL MUNDO"
Genetic mutation implicated in 'broken' heart
For decades, researchers have sought a genetic explanation for idiopathic dilated cardiomyopathy (DCM), a weakening and enlargement of the heart that puts an estimated 1.6 million Americans at risk of heart failure each year. Because idiopathic DCM occurs as a familial disorder, researchers have long searched for genetic causes, but for most patients the etiology for their heart disease remained unknown. Now, new work from the lab of Christine Seidman, a Howard Hughes Investigator and the Thomas W. Smith Professor of Medicine and Genetics at Harvard Medical School and Brigham and Women's Hospital, and Jonathan Seidman, the Henrietta B. and Frederick H. Bugher Foundation Professor of Genetics at Harvard Medical School, has found that mutations in the gene TTN account for 18 percent of sporadic and 25 percent of familial DCM.
"Until the development of modern DNA sequencing platforms, the enourmous size of the TTN gene prevented a comprehensive analyses -- but now we know TTN is a major cause of DCM," said Christine Seidman, who reported the findings February 16 in the New England Journal of Medicine.
Idiopathic DCM is one of three different types of cardiomyopathy (the term "idiopathic" indicates that acquired causes for DCM such as atherosclerosis, excess drinking or viral infections have been excluded). It affects only about 4 in 10,000 Americans, but may be under-diagnosed because symptoms often appear late in the course of disease. DCM may cause shortness of breath, chest pain, and limited exercise capacity. DCM increases the risk of developing heart failure, for which no cure is available, and the risk of stroke and sudden cardiac death.
These findings will not only help patients understand the cause of their DCM symptoms, but also help to screen family members who might be at risk of developing the condition. Early identification of those at risk allows early intervention with medications that reduce workload on the heart and help prevent the changes in heart muscle, called remodeling, that lead to heart failure.
As DCM progresses, remodeling of the heart tissue makes the heart more prone to disturbances in the normal heart rhythm that can lead to stroke, heart attack and sudden death. "One of the added values to knowing that you are at risk for developing DCM is that we can do prophylactic screening so that silent arrhythmias are picked up before they become harmful," said Christine Seidman. "The discovery is immediately translatable into clinical practice to provide patients with gene-based diagnosis." The Partner's Laboratory for Molecular Medicine, an HMS affiliate, has incorporated TTN analyses.
The Seidmans and others had previously linked other gene mutations to about 20 to 30 percent of idiopathic DCM cases -- and, with more success, to a related disease, hypertrophic cardiomyopathy. They had examined almost all of the genes linked to muscle units known as sarcomeres, but saved the biggest for last: TTN, which encodes the protein titin. At approximately 33,000 amino acids, titin is the largest human protein.
"Titin was a missing link," said Christine Seidman. "A very large missing link."
The Seidmans' collaborated with researchers from the Imperial College (London) and the University of Washington. Traditional sequencing methods had previously found only a few TTN variants in patients with DCM because complete, accurate sequencing was too expensive.
Using next generation sequencing tools that substantially reduce the cost per base (the TTN sequence contains 100,000 bases) by orders of magnitude over earlier standards, the Seidmans were able to perform comprehensive screening for TTN mutations for the first time. They analyzed TTN in 312 DCM patients, 231 HCM patients, and 249 individuals with no disease.
Of the many mutations identified, 72 make the titin protein shorter.
Called TTN truncating variants, these specific mutations appeared almost exclusively in patients with DCM. "Our hypothesis is that any variant that shortens titin is going to cause DCM, which will lead to heart failure by the same mechanism," said Jonathan Seidman.
To identify the pathological mechanism, the Seidmans plan to model a handful of TTN truncating mutations in mice.
One concern in the search for disease causing genes is that, while there will be many gene variants discovered, only a few will cause disease. This is particularly true for missense mutations that cause single nucleotide changes -- changes that substitute a single amino acid within the protein.
"We often don't know if a missense mutation significantly impacts a protein's function, until we model it and study its effects," said Jonathan Seidman.
However, in the case of truncating mutations, "it's the converse," he continued. "We don't have to model all of those different mutations that truncate titin, becuase they all foreshorten the protein. We can pick a few representative ones and expect that they will reveal a common mechanism."
*Source: Harvard Medical School
"Until the development of modern DNA sequencing platforms, the enourmous size of the TTN gene prevented a comprehensive analyses -- but now we know TTN is a major cause of DCM," said Christine Seidman, who reported the findings February 16 in the New England Journal of Medicine.
Idiopathic DCM is one of three different types of cardiomyopathy (the term "idiopathic" indicates that acquired causes for DCM such as atherosclerosis, excess drinking or viral infections have been excluded). It affects only about 4 in 10,000 Americans, but may be under-diagnosed because symptoms often appear late in the course of disease. DCM may cause shortness of breath, chest pain, and limited exercise capacity. DCM increases the risk of developing heart failure, for which no cure is available, and the risk of stroke and sudden cardiac death.
These findings will not only help patients understand the cause of their DCM symptoms, but also help to screen family members who might be at risk of developing the condition. Early identification of those at risk allows early intervention with medications that reduce workload on the heart and help prevent the changes in heart muscle, called remodeling, that lead to heart failure.
As DCM progresses, remodeling of the heart tissue makes the heart more prone to disturbances in the normal heart rhythm that can lead to stroke, heart attack and sudden death. "One of the added values to knowing that you are at risk for developing DCM is that we can do prophylactic screening so that silent arrhythmias are picked up before they become harmful," said Christine Seidman. "The discovery is immediately translatable into clinical practice to provide patients with gene-based diagnosis." The Partner's Laboratory for Molecular Medicine, an HMS affiliate, has incorporated TTN analyses.
The Seidmans and others had previously linked other gene mutations to about 20 to 30 percent of idiopathic DCM cases -- and, with more success, to a related disease, hypertrophic cardiomyopathy. They had examined almost all of the genes linked to muscle units known as sarcomeres, but saved the biggest for last: TTN, which encodes the protein titin. At approximately 33,000 amino acids, titin is the largest human protein.
"Titin was a missing link," said Christine Seidman. "A very large missing link."
The Seidmans' collaborated with researchers from the Imperial College (London) and the University of Washington. Traditional sequencing methods had previously found only a few TTN variants in patients with DCM because complete, accurate sequencing was too expensive.
Using next generation sequencing tools that substantially reduce the cost per base (the TTN sequence contains 100,000 bases) by orders of magnitude over earlier standards, the Seidmans were able to perform comprehensive screening for TTN mutations for the first time. They analyzed TTN in 312 DCM patients, 231 HCM patients, and 249 individuals with no disease.
Of the many mutations identified, 72 make the titin protein shorter.
Called TTN truncating variants, these specific mutations appeared almost exclusively in patients with DCM. "Our hypothesis is that any variant that shortens titin is going to cause DCM, which will lead to heart failure by the same mechanism," said Jonathan Seidman.
To identify the pathological mechanism, the Seidmans plan to model a handful of TTN truncating mutations in mice.
One concern in the search for disease causing genes is that, while there will be many gene variants discovered, only a few will cause disease. This is particularly true for missense mutations that cause single nucleotide changes -- changes that substitute a single amino acid within the protein.
"We often don't know if a missense mutation significantly impacts a protein's function, until we model it and study its effects," said Jonathan Seidman.
However, in the case of truncating mutations, "it's the converse," he continued. "We don't have to model all of those different mutations that truncate titin, becuase they all foreshorten the protein. We can pick a few representative ones and expect that they will reveal a common mechanism."
*Source: Harvard Medical School
Medidas contra el suicidio que sí funcionan en el Reino Unido
La prevención del suicidio debería ser una prioridad internacional. En España, 10 personas se quitan la vida cada día. En el mundo, y según datos de la OMS, cada 40 segundos se suicida una persona, lo que convierte al suicidio en la primera causa de muerte violenta, superando a los fallecimientos por guerras y homicidios juntos.
Un paso importante en el campo de la prevención, y un ejemplo a seguir, es el que ha dado Reino Unido. Tal y como demuestra un estudio dirigido por Navneet Kapur, del Centro de Prevención del Suicidio de la Universidad de Manchester, los servicios de salud mental que han implementado una serie de recomendaciones elaboradas -equipos de crisis disponibles las 24 horas al día- hace una década han logrado disminuir las cifras de personas que se quitan la vida.
José Giner Ubago, del departamento de la Universidad de Sevilla reconoce a ELMUNDO.es la "elevada importancia de este artículo. El suicidio es una de las principales causas de muerte en población joven, pero no se están adoptando las medidas necesarias para su prevención. Sin embargo, trabajos como éste demuestran que se pueden hacer cosas que realmente son eficaces para evitarlos".
La mayoría de los que se quitan la vida tienen un trastorno psiquiátrico. "Los servicios mentales podrían desempeñar una papel importante en la reducción de casos... Nuestro objetivo era examinar la relación entre los servicios de salud mental y las tasas de suicidio. Nos centramos en las recomendaciones realizadas por el Instituto Nacional de Investigación Confidencial para el Suicidio y las Personas con Enfermedad Mental, un proyecto que tiene como objetivo monitorizar el suicidio y, en última instancia, mejorar la calidad de atención de salud mental en el Reino Unido", reconocen los investigadores en 'The Lancet'.
Los científicos recogieron y estudiaron los datos de suicidios de personas en contacto con los servicios de salud mental en Reino Unido desde 1997. Para ello se centraron en las cifras de aquellos que se quitaron la vida entre 1997 y 2006 pertenecientes a 91 centros de salud mental. Asimismo se indagó si dichos centros habían adoptado o no todas o algunas de las nueve medidas preventivas dadas.
Algunas de ellas son: eliminar cualquier objeto del centro de salud mental (ventanas sin rejas, cortinas plegables) que puedan ayudar a cometer un suicidio; establecer servicios comunitarios que incluyan equipos que ofrecen apoyo intensivo para los enfermos mentales que son difíciles de tratar en los centros tradicionales; introducir equipos de crisis disponibles las 24 horas al día que deben responder rápidamente ante una crisis de un paciente con enfermedad mental y así evitar la hospitalización.
Otras recomendaciones importantes son las que hacen referencia al seguimiento de siete días de los pacientes dados de alta psiquiátrica, a las políticas para los pacientes que no cumplen el tratamiento y al entrenamiento de personal sanitario, por lo menos cada tres años, en el manejo del riesgo de suicidio.
-Resultados
El estudio muestra que los centros que aplicaban entre siete y nueve de las recomendaciones tenían menores tasas de suicidio (nueve por cada 10.000 pacientes) que aquéllos que adoptaron seis o menos (11).
"La recomendación que produjo la mayor caída en las tasas de suicidio fue la introducción de equipos de crisis de 24 horas", destacan los investigadores. Otro dato aportado es la gran eficacia del seguimiento de los enfermos dados de alta psiquiátrica.
"Estos hallazgos son muy importantes para la investigación sobre el suicidio y los servicios de salud mental a nivel internacional. Ningún otro estudio ha sido capaz de mostrar el impacto que las mejoras específicas de los servicios de salud mental pueden tener sobre las tasas de suicidio", reconocen los autores de la investigación que no dudan en afirmar que "nuestros datos tienen importantes implicaciones para los servicios de salud mental internacionales".
-Esfuerzo en España
Para el experto español, "el mismo esfuerzo que las autoridades han dedicado a disminuir los accidentes de tráfico se debería realizar para el suicidio". Sin embargo, "y pese a que se trata de un problema de salud pública de gran envergadura, hasta ahora no se ha hecho nada".
El doctor Giner admite que "algunas de las medidas adoptadas en Reino Unido son bien conocidas y desde luego se conoce su valor a la hora de evitar que una persona se suicide. En España, por ejemplo, ningún hospital psiquiátrico tiene ventanas sin rejas, pero no hacemos seguimiento de siete días a los pacientes que reciben el alta".
Insiste en que esta última medida es de suma importancia "dado que hay estudios que demuestran que un mayor riesgo de suicidio en las dos semanas posteriores al alta. El enfermo está mejor y si tiene el impulso del suicidio es más fácil llevarlo a cabo porque cuenta con más fuerza mental, más autodeterminación".
Admite además que "en nuestro país los equipos de crisis de 24 horas como los expuestos en el trabajo no existen y serían de gran ayuda".
Finalmente reconoce la necesidad de que "se hable de este tema, para que la sociedad sea consciente de su existencia y para que los médicos estén alertas a cualquier signo que muestre un paciente o comunique la familia".
**Publicado en "EL MUNDO"
Un paso importante en el campo de la prevención, y un ejemplo a seguir, es el que ha dado Reino Unido. Tal y como demuestra un estudio dirigido por Navneet Kapur, del Centro de Prevención del Suicidio de la Universidad de Manchester, los servicios de salud mental que han implementado una serie de recomendaciones elaboradas -equipos de crisis disponibles las 24 horas al día- hace una década han logrado disminuir las cifras de personas que se quitan la vida.
José Giner Ubago, del departamento de la Universidad de Sevilla reconoce a ELMUNDO.es la "elevada importancia de este artículo. El suicidio es una de las principales causas de muerte en población joven, pero no se están adoptando las medidas necesarias para su prevención. Sin embargo, trabajos como éste demuestran que se pueden hacer cosas que realmente son eficaces para evitarlos".
La mayoría de los que se quitan la vida tienen un trastorno psiquiátrico. "Los servicios mentales podrían desempeñar una papel importante en la reducción de casos... Nuestro objetivo era examinar la relación entre los servicios de salud mental y las tasas de suicidio. Nos centramos en las recomendaciones realizadas por el Instituto Nacional de Investigación Confidencial para el Suicidio y las Personas con Enfermedad Mental, un proyecto que tiene como objetivo monitorizar el suicidio y, en última instancia, mejorar la calidad de atención de salud mental en el Reino Unido", reconocen los investigadores en 'The Lancet'.
Los científicos recogieron y estudiaron los datos de suicidios de personas en contacto con los servicios de salud mental en Reino Unido desde 1997. Para ello se centraron en las cifras de aquellos que se quitaron la vida entre 1997 y 2006 pertenecientes a 91 centros de salud mental. Asimismo se indagó si dichos centros habían adoptado o no todas o algunas de las nueve medidas preventivas dadas.
Algunas de ellas son: eliminar cualquier objeto del centro de salud mental (ventanas sin rejas, cortinas plegables) que puedan ayudar a cometer un suicidio; establecer servicios comunitarios que incluyan equipos que ofrecen apoyo intensivo para los enfermos mentales que son difíciles de tratar en los centros tradicionales; introducir equipos de crisis disponibles las 24 horas al día que deben responder rápidamente ante una crisis de un paciente con enfermedad mental y así evitar la hospitalización.
Otras recomendaciones importantes son las que hacen referencia al seguimiento de siete días de los pacientes dados de alta psiquiátrica, a las políticas para los pacientes que no cumplen el tratamiento y al entrenamiento de personal sanitario, por lo menos cada tres años, en el manejo del riesgo de suicidio.
-Resultados
El estudio muestra que los centros que aplicaban entre siete y nueve de las recomendaciones tenían menores tasas de suicidio (nueve por cada 10.000 pacientes) que aquéllos que adoptaron seis o menos (11).
"La recomendación que produjo la mayor caída en las tasas de suicidio fue la introducción de equipos de crisis de 24 horas", destacan los investigadores. Otro dato aportado es la gran eficacia del seguimiento de los enfermos dados de alta psiquiátrica.
"Estos hallazgos son muy importantes para la investigación sobre el suicidio y los servicios de salud mental a nivel internacional. Ningún otro estudio ha sido capaz de mostrar el impacto que las mejoras específicas de los servicios de salud mental pueden tener sobre las tasas de suicidio", reconocen los autores de la investigación que no dudan en afirmar que "nuestros datos tienen importantes implicaciones para los servicios de salud mental internacionales".
-Esfuerzo en España
Para el experto español, "el mismo esfuerzo que las autoridades han dedicado a disminuir los accidentes de tráfico se debería realizar para el suicidio". Sin embargo, "y pese a que se trata de un problema de salud pública de gran envergadura, hasta ahora no se ha hecho nada".
El doctor Giner admite que "algunas de las medidas adoptadas en Reino Unido son bien conocidas y desde luego se conoce su valor a la hora de evitar que una persona se suicide. En España, por ejemplo, ningún hospital psiquiátrico tiene ventanas sin rejas, pero no hacemos seguimiento de siete días a los pacientes que reciben el alta".
Insiste en que esta última medida es de suma importancia "dado que hay estudios que demuestran que un mayor riesgo de suicidio en las dos semanas posteriores al alta. El enfermo está mejor y si tiene el impulso del suicidio es más fácil llevarlo a cabo porque cuenta con más fuerza mental, más autodeterminación".
Admite además que "en nuestro país los equipos de crisis de 24 horas como los expuestos en el trabajo no existen y serían de gran ayuda".
Finalmente reconoce la necesidad de que "se hable de este tema, para que la sociedad sea consciente de su existencia y para que los médicos estén alertas a cualquier signo que muestre un paciente o comunique la familia".
**Publicado en "EL MUNDO"
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