RESUMEN
Introducción y objetivos: La amiloidosis hereditaria por transtirretina (ATTRv) es una enfermedad causada por mutaciones en el gen de la transtirretina que frecuentemente presenta afección cardiaca debido al depósito de amiloide en el miocardio. Nuestro objetivo es describir esta afección en una cohorte española. Métodos: Estudio retrospectivo multicéntrico de pacientes con ATTRv y afección cardiaca provenientes de centros españoles. Se recogieron datos demográficos, clínicos y genéticos.Resultados: En 26 centros se incluyó a 181 pacientes, el 65,2% varones, con una mediana de edad al diagnóstico de 62 años. Las mutaciones más frecuentes fueron Val50Met (67,7%) y Val142Ile (12,4%). El principal motivo de consulta fue extracardiaco (69%), principalmente neurológico. La media de la fracción aminoterminal del propéptido natriurético cerebral (NT-proBNP) fue 2.145±3.586 pg/ml. Lo más característico del electrocardiograma fueron el patrón de seudoinfarto (25,9%) y el bloqueo auriculoventricular (25,3%). El grosor ventricular medio fue 15,4±4,1mm. El strain longitudinal estaba reducido en segmentos basales en el 29,4%. Se observó realce tardío subendocárdico difuso en el 58,8%. En la gammagrafía había captación de grados 2-3 en un 75%. En el seguimiento, el 24,9% ingresó por insuficiencia cardiaca, el 34,3% precisó marcapasos y el 31,6%, trasplante hepático. El 32,5% falleció, principalmente por insuficiencia cardiaca (28,8%). Las mutaciones diferentes de Val50Met se asociaron en general con un peor pronóstico. Conclusiones: La ATTRv cardiaca en España tiene un espectro genético y de afección heterogéneo. El pronóstico es malo principalmente por las complicaciones cardiacas, por lo que son esenciales un diagnóstico y un tratamiento precoces (AU)
Introduction and objectives: Hereditary transthyretin amyloidosis (hATTR) is a disease caused by mutations in the transthyretin gene that frequently shows cardiac involvement due to amyloid deposition in the myocardium. Our objective was to identify cardiac involvement in a Spanish cohort. Methods: Retrospective multicenter study of patients diagnosed with hATTR with cardiac involvement from Spanish centers. We collected demographic, clinical, and genetic data. Result: A total of 181 patients from 26 centers were included (65.2% men, with a median age at diagnosis of 62 years). The most frequent mutations were Val50Met (67.7%) and Val142Ile (12.4%). The main reason for consultation was extracardiac symptoms (69%), mainly neurological. The mean N-terminal pro-B-type natriuretic peptide level was 2145±3586 pg/mL. The most characteristic electrocardiogram findings were a pseudoinfarct pattern (25.9%) and atrioventricular block (25.3%). Mean ventricular thickness was 15.4±4.1mm. Longitudinal strain was reduced in basal segments by 29.4%. Late diffuse subendocardial enhancement was observed in 58.8%. Perugini grade 2 or 3 uptake was observed in 75% of scintigraphy scans. During follow-up, 24.9% of the patients were admitted for heart failure, 34.3% required a pacemaker, and 31.6% required a liver transplant. One third (32.5%) died during follow-up, mainly due to heart failure (28.8%). The presence of non-Val50Met mutations was associated with a worse prognosis.Conclusions: HATTR cardiac amyloidosis in Spain shows heterogeneous genetic and clinical involvement. The prognosis is poor, mainly due to cardiac complications. Consequently early diagnosis and treatment are vital (AU)
Asunto(s)
Humanos , Masculino , Femenino , Persona de Mediana Edad , Anciano , Amiloidosis Familiar/genética , Amiloidosis Familiar/epidemiología , Prealbúmina/metabolismo , Estudios Retrospectivos , Estudios de Cohortes , España/epidemiologíaAsunto(s)
Humanos , Publicaciones Periódicas como Asunto , Cardiología , Políticas Editoriales , EspañaRESUMEN
BACKGROUND AND OBJECTIVES: Steinert's disease or myotonic dystrophy type 1 (MD1), (OMIM 160900), is the most prevalent myopathy in adults. It is a multisystemic disorder with dysfunction of virtually all organs and tissues and a great phenotypical variability, which implies that it has to be addressed by different specialities with experience in the disease. The knowledge of the disease and its management has changed dramatically in recent years. This guide tries to establish recommendations for the diagnosis, prognosis, follow-up and treatment of the complications of MD1. MATERIAL AND METHODS: Consensus guide developed through a multidisciplinary approach with a systematic literature review. Neurologists, pulmonologists, cardiologists, endocrinologists, neuropaediatricians and geneticists have participated in the guide. RECOMMENDATIONS: The genetic diagnosis should quantify the number of CTG repetitions. MD1 patients need cardiac and respiratory lifetime follow-up. Before any surgery under general anaesthesia, a respiratory evaluation must be done. Dysphagia must be screened periodically. Genetic counselling must be offered to patients and relatives. CONCLUSION: MD1 is a multisystemic disease that requires specialised multidisciplinary follow-up.
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Asesoramiento Genético , Distrofia Miotónica/diagnóstico , Distrofia Miotónica/genética , Guías de Práctica Clínica como Asunto/normas , Trastornos de Deglución , Estudios de Seguimiento , Humanos , Distrofia Miotónica/complicacionesRESUMEN
Dilated cardiomyopathy (DCM) is the most frequent cause of heart failure and the leading indication for heart transplantation. Here we show that epigenetic regulator and central transcriptional instructor in adult stem cells, Bmi1, protects against DCM by repressing cardiac senescence. Cardiac-specific Bmi1 deletion induces the development of DCM, which progresses to lung congestion and heart failure. In contrast, Bmi1 overexpression in the heart protects from hypertrophic stimuli. Transcriptome analysis of mouse and human DCM samples indicates that p16(INK4a) derepression, accompanied by a senescence-associated secretory phenotype (SASP), is linked to severely impaired ventricular dimensions and contractility. Genetic reduction of p16(INK4a) levels reverses the pathology of Bmi1-deficient hearts. In parabiosis assays, the paracrine senescence response underlying the DCM phenotype does not transmit to healthy mice. As senescence is implicated in tissue repair and the loss of regenerative potential in aging tissues, these findings suggest a source for cardiac rejuvenation.
Asunto(s)
Envejecimiento/metabolismo , Cardiomiopatía Dilatada/metabolismo , Epigénesis Genética , Insuficiencia Cardíaca/metabolismo , Miocardio/metabolismo , Complejo Represivo Polycomb 1/genética , Envejecimiento/patología , Animales , Cardiomiopatía Dilatada/inducido químicamente , Cardiomiopatía Dilatada/genética , Cardiomiopatía Dilatada/patología , Senescencia Celular , Inhibidor p16 de la Quinasa Dependiente de Ciclina/genética , Inhibidor p16 de la Quinasa Dependiente de Ciclina/metabolismo , Embrión de Mamíferos , Femenino , Regulación del Desarrollo de la Expresión Génica , Insuficiencia Cardíaca/inducido químicamente , Insuficiencia Cardíaca/genética , Insuficiencia Cardíaca/patología , Ventrículos Cardíacos/metabolismo , Ventrículos Cardíacos/patología , Humanos , Isoproterenol , Masculino , Ratones , Ratones Endogámicos C57BL , Ratones Transgénicos , Contracción Miocárdica/genética , Miocardio/patología , Miocitos Cardíacos/metabolismo , Miocitos Cardíacos/patología , Comunicación Paracrina , Complejo Represivo Polycomb 1/metabolismo , TranscriptomaRESUMEN
Antecedentes y objetivo. La amiloidosis AL es una entidad rara cuyo manejo está cambiando gracias a avances recientes en el diagnóstico y tratamiento. Describimos una serie contemporánea de enfermos con amiloidosis AL, para analizar aspectos que permiten un diagnóstico precoz y un manejo óptimo. Pacientes y métodos. Hemos reunido para su análisis 32 pacientes (19 mujeres, edad mediana 63 años) atendidos consecutivamente en nuestro centro. Resultados. El 84% de los enfermos comenzaron con astenia, disnea o edemas con una duración previa de los síntomas de 8 meses (mediana). La afectación cardiaca (21/32) y la renal fueron las más frecuentes (11/32). Todos los enfermos, excepto uno, presentaban componente monoclonal en suero/orina o valores anormales de cadenas ligeras libres (78%, ¿). La médula ósea (MO) mostraba plasmocitosis clonal en 29 casos. El 100% de las biopsias cardiacas y el 50% de las de MO mostraron amiloide. El ecocardiograma y/o la resonancia cardiaca fueron anormales en 27/30 casos. La mediana de NT-proBNP al diagnóstico fue de 5200 ng/mL. Trece enfermos fallecieron por insuficiencia cardiaca, 2 por rechazo tras trasplante cardiaco, 2 por neumonía y uno tras ictus. Diez enfermos no recibieron tratamiento; 12 recibieron bortezomib y 5 alquilantes. Cinco enfermos recibieron un trasplante cardiaco y 4, un autotrasplante de MO. Catorce enfermos alcanzaron respuesta hematológica completa y 10, respuesta de órganos. La supervivencia mediana fue de 17 meses. Conclusiones. La afectación cardiaca es el principal determinante pronóstico. La rentabilidad de las biopsias de órganos afectados es alta (100% biopsias cardiacas). El tratamiento antineoplásico con bortezomib y/o autotrasplante de MO consigue respuestas hematológicas con mejoría de la afectación de órganos (AU)
Background and objectives. AL amyloidosis is a rare condition whose management is undergoing changes due to recent advances in diagnosis and treatment. We describe a contemporary series of patients with AL amyloidosis to analyze the features that enable early diagnosis and optimal management. Patients and methods. We recruited for analysis 32 patients (19 women; mean age, 63 years) treated consecutively at our center. Results. Eighty-four percent of the patients presented with asthenia, dyspnea or edema, with a previous duration of symptoms of 8 months (median). Cardiac (21/32) and renal impairment were the most common type (11/32). All of the patients, except one, had a monoclonal component in serum/urine or abnormal values for free light chains (78%, ¿). The bone marrow (BM) showed clonal plasmacytosis in 29 cases. All of the cardiac biopsies and 50% of the BM biopsies showed amyloid deposits. The results of the echocardiogram and/or cardiac resonance were abnormal in 27/30 cases. The median NT-proBNP value at diagnosis was 5200 ng/ml. Thirteen patients died due to heart failure, 2 due to rejection after heart transplantation, 2 due to pneumonia and 1 after a stroke. Ten patients did not undergo treatment, 12 were treated with bortezomib and 5 were treated with alkylating agents. Five patients underwent heart transplantation and 4 underwent autologous bone marrow transplantation. Fourteen patients achieved a complete hematologic response and 10 achieved organ response. The median survival was 17 months. Conclusions. Cardiac involvement is the major determinant of prognosis. Yield of involved organ biopsy is high (100% heart biopsies). Antineoplastic treatment with bortezomib and/or autologous bone marrow transplantation achieves hematological responses with improvements in organ impairment (AU)
Asunto(s)
Humanos , Masculino , Femenino , Persona de Mediana Edad , Amiloidosis/complicaciones , Amiloidosis/diagnóstico , Amiloidosis/cirugía , Reordenamiento Génico de Cadena Ligera de Linfocito B , Péptido Natriurético Encefálico , Péptido Natriurético Encefálico , Trasplante Autólogo/métodos , Trasplante de Corazón/métodos , Diagnóstico Precoz , Alquilantes/uso terapéutico , Amiloidosis/tratamiento farmacológico , Amiloidosis/fisiopatología , Amiloidosis , Astenia/complicaciones , Disnea/complicaciones , Pronóstico , Biopsia , Mutagénesis , Mutagénesis/genéticaRESUMEN
BACKGROUND AND OBJECTIVES: AL amyloidosis is a rare condition whose management is undergoing changes due to recent advances in diagnosis and treatment. We describe a contemporary series of patients with AL amyloidosis to analyze the features that enable early diagnosis and optimal management. PATIENTS AND METHODS: We recruited for analysis 32 patients (19 women; mean age, 63 years) treated consecutively at our center. RESULTS: Eighty-four percent of the patients presented with asthenia, dyspnea or edema, with a previous duration of symptoms of 8 months (median). Cardiac (21/32) and renal impairment were the most common type (11/32). All of the patients, except one, had a monoclonal component in serum/urine or abnormal values for free light chains (78%, λ). The bone marrow (BM) showed clonal plasmacytosis in 29 cases. All of the cardiac biopsies and 50% of the BM biopsies showed amyloid deposits. The results of the echocardiogram and/or cardiac resonance were abnormal in 27/30 cases. The median NT-proBNP value at diagnosis was 5200 ng/ml. Thirteen patients died due to heart failure, 2 due to rejection after heart transplantation, 2 due to pneumonia and 1 after a stroke. Ten patients did not undergo treatment, 12 were treated with bortezomib and 5 were treated with alkylating agents. Five patients underwent heart transplantation and 4 underwent autologous bone marrow transplantation. Fourteen patients achieved a complete hematologic response and 10 achieved organ response. The median survival was 17 months. CONCLUSIONS: Cardiac involvement is the major determinant of prognosis. Yield of involved organ biopsy is high (100% heart biopsies). Antineoplastic treatment with bortezomib and/or autologous bone marrow transplantation achieves hematological responses with improvements in organ impairment.
RESUMEN
No disponible
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Humanos , Insuficiencia Cardíaca/epidemiología , Continuidad de la Atención al Paciente/organización & administración , Atención de Enfermería/organización & administración , Niveles de Atención de Salud/organización & administración , Grupo de Atención al Paciente/organización & administraciónRESUMEN
Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is a rare cardiac genetic disease characterized by the presence of structural alterations in the right ventricle which may cause ventricular arrhythmias and may induce sudden cardiac death. ARVC/D has been associated with mutations in genes encoding myocyte adhesion proteins. However, only 30%-50% of patients have mutations in these genes. Genetic testing is useful in obtaining a diagnosis, particularly in individuals who do not completely fulfill clinical criteria, thereby also enabling the undertaking of preventive strategies in family members. The main goal of this study was to identify mutations in candidate genes associated with intercalate disks that could be potentially involved in ARVC/D pathogenesis. We analyze a cohort of 14 Spanish unrelated patients clinically diagnosed with ARVC/D without any genetic alteration in all previously known responsible genes. Thus, a genetic screening has been performed in 7 additional potential candidate genes (ACTC1 -actin alpha cardiac muscle 1-, CDHN -cadherin 2 type 1 or N-cadherin-, CTNNA1 -catenin alpha 1-, Cx43 or GJA1 -gap junction protein alpha 1-, MVCL -Metavinculin-, MYL2 -myosin light chain 2- and MYL3 -myosin light chain 3-) by direct sequencing analysis. Our genetic analysis did not identify any disease-causing mutation. Thirty single nucleotides polymorphisms were found, six of them novel. In conclusion, our ARVC/D Spanish cohort has not shown any mutations in the analyzed candidate genes despite their involvement in formation and maintenance of the intercalated disk.
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Displasia Ventricular Derecha Arritmogénica/genética , Biomarcadores/metabolismo , Proteínas del Citoesqueleto/genética , Adulto , Displasia Ventricular Derecha Arritmogénica/metabolismo , Displasia Ventricular Derecha Arritmogénica/patología , Secuencia de Bases , Niño , Estudios de Cohortes , Femenino , Pruebas Genéticas , Ventrículos Cardíacos/metabolismo , Ventrículos Cardíacos/patología , Humanos , Masculino , Persona de Mediana Edad , Datos de Secuencia Molecular , Mutación , Linaje , Polimorfismo de Nucleótido Simple , Análisis de Secuencia de ADNRESUMEN
BACKGROUND AND OBJECTIVES: Most hypertensive patients do not have their blood pressure (BP) under control. This study aims to evaluate Primary Care physicians' management of hypertension by analyzing the four main areas proposed by experts to improve BP control. MATERIAL AND METHODS: From February to May 2003 a questionnaire was completed by 195 Primary Care physicians from 33 Primary Care centers of Madrid, Spain. Four aspects of clinical practice were examined: a) knowledge of hypertension guidelines and objectives; b) diagnosis and follow-up of patients; c) hypertension treatment, and d) drug compliance. RESULTS: Guidelines were followed by 90.6% of the physicians. Twenty six percent of the physicians perceived that guideline objectives are too strict and only 32% identified systolic BP as the component that provides more risk. Only 14% used automatic devices to measure BP while 89% still use the mercury sphygmomanometer. Diuretics were included among the 3 most used antihypertensive drugs by 94% of the physicians, ACEI by 91%, beta blockers by 62% and combinations only by 24%. Eighty eight percent believed that more than 40% of their patients have their BP under control and 53% felt that less than 20% of their patients were non-compliant with antihypertensive treatment. CONCLUSIONS: Hypertension management among Primary Care physicians showed some deficiencies in the 4 analyzed areas. Thus, perception of excessively rigorous guideline objectives, underrating of systolic BP, underuse of automatic devices and drug associations, and the overestimation of BP control and therapeutic compliance are specific areas that should be modified to improve BP control.
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Antihipertensivos/uso terapéutico , Hipertensión/epidemiología , Hipertensión/prevención & control , Pautas de la Práctica en Medicina , Atención Primaria de Salud/estadística & datos numéricos , Atención Primaria de Salud/normas , Adulto , Anciano , Femenino , Guías como Asunto , Humanos , Masculino , Persona de Mediana Edad , Autoeficacia , Encuestas y CuestionariosRESUMEN
Fundamento y objetivo. La mayoría de los hipertensos no tienen sus cifras de presión arterial (PA) controladas. Este estudio pretende conocer el manejo de la hipertensión arterial (HTA) por médicos de Atención Primaria en su práctica diaria analizando las cuatro grandes áreas de mejora del control propuestas por los expertos. Material y métodos. Desde febrero a mayo de 2003 se administró una encuesta a 195 médicos de Atención Primaria procedentes de 33 Centros de Salud de la Comunidad de Madrid. El cuestionario estudia 4 aspectos de la práctica clínica: a) conocimiento de las guías de HTA y objetivos terapéuticos; b) diagnóstico y seguimiento de pacientes hipertensos; c) tratamiento de la HTA, y d) cumplimiento terapéutico. Resultados. El 90,6% de los médicos sigue alguna guía acreditada. Para el 26% los objetivos terapéuticos de las guías son demasiado rigurosos y sólo el 32% identificó la presión sistólica como la que mayor riesgo confiere. Sólo el 14% utiliza dispositivos automáticos de brazo para medir la PA y el 89% utiliza esfigmomanómetros de mercurio. Para el 94% los diuréticos están entre los 3 fármacos más utilizados, los inhibidores de la enzima conversora de la angiotensina (IECA) para el 91%, los bloqueadores beta para el 62% y las combinaciones sólo para el 24%. El 88% cree que más del 40% de sus pacientes tienen su PA controlada. El 53% opina que menos del 20% de sus pacientes incumple/abandona el tratamiento antihipertensivo. Conclusiones. Se han identificado deficiencias en el manejo de la HTA en las 4 áreas analizadas. Así, la percepción de un excesivo rigor en los objetivos de las guías, el menosprecio de la presión sistólica, la infrautilización de los tensiómetros automáticos y de las asociaciones farmacológicas y la sobreestimación del control y del cumplimiento terapéutico son aspectos a corregir para incrementar el control de la PA (AU)
Background and objectives. Most hypertensive patients do not have their blood pressure (BP) under control. This study aims to evaluate Primary Care physicians' management of hypertension by analyzing the four main areas proposed by experts to improve BP control. Material and methods. From February to May 2003 a questionnaire was completed by 195 Primary Care physicians from 33 Primary Care centers of Madrid, Spain. Four aspects of clinical practice were examined: a) knowledge of hypertension guidelines and objectives; b) diagnosis and follow-up of patients; c) hypertension treatment, and d) drug compliance. Results. Guidelines were followed by 90.6% of the physicians. Twenty six percent of the physicians perceived that guideline objectives are too strict and only 32% identified systolic BP as the component that provides more risk. Only 14% used automatic devices to measure BP while 89% still use the mercury sphygmomanometer. Diuretics were included among the 3 most used antihypertensive drugs by 94% of the physicians, ACEI by 91%, beta blockers by 62% and combinations only by 24%. Eighty eight percent believed that more than 40% of their patients have their BP under control and 53% felt that less than 20% of their patients were non-compliant with antihypertensive treatment. Conclusions. Hypertension management among Primary Care physicians showed some deficiencies in the 4 analyzed areas. Thus, perception of excessively rigorous guideline objectives, underrating of systolic BP, underuse of automatic devices and drug associations, and the overestimation of BP control and therapeutic compliance are specific areas that should be modified to improve BP control (AU)
Asunto(s)
Humanos , Atención Primaria de Salud/métodos , Hipertensión/tratamiento farmacológico , Antihipertensivos/uso terapéutico , Encuestas de Atención de la Salud/estadística & datos numéricos , Determinación de la Presión Sanguínea/métodos , Guías de Práctica Clínica como Asunto , Diuréticos/uso terapéuticoRESUMEN
BACKGROUND: Medical care of patients with essential hypertension implies considerable expenses for the National Health System (NHS). During the performance of clinical trials (CT), the promoter (usually the pharmaceutical industry) covers the expenses of patient care, which implies savings for the NHS. In this work, we quantitated cost savings derived from the participation of patients in clinical trials on essential hypertension in a tertiary care level Insalud hospital. PATIENTS AND METHODS: Savings were defined as the difference between the economical expenses of a patient before being enrolled in a clinical trial (CT) and that generated during his/her participation in the CT. Expenses of a given patient to the NHS were calculated from his/her clinical record during a time period equal to CT length in which the patient participated. Three financial allottments in four CT were analyzed (three with a 52-week duration and one of 14 weeks) that meant cost savings (total or partial): a) antihypertensive drugs; b) complementary tests, and c) medical visits. RESULTS: Seventy-three patients with essential hypertension were enrolled in the 4 CT; 59 (81%) patients were randomly assigned and 57 patients concluded the CT. The overall savings derived from the participation of the 57 patients was 2,950,423 pesetas. Most of these savings corresponded to drugs (70.7%). Savings derived from laboratory tests (14.1%) and medical visits (15.1%) were similar. The mean savings derived from the participation of one patient in a CT for 12 months was, at least, 70,564 pesetas (5,880 pesetas/patient/month). CONCLUSIONS: The participation of patients with essential AH implies considerable savings for the NHS.
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Ensayos Clínicos como Asunto/economía , Hipertensión/tratamiento farmacológico , Renta , HumanosRESUMEN
Fundamento. El cuidado de los pacientes con hipertensión arterial (HTA) esencial supone para el Sistema Nacional de la Salud (SNS) un gasto económico considerable. Durante la realización de ensayos clínicos (EECC) el promotor (habitualmente la industria farmacéutica) suele cubrir los gastos que conlleva la atención de los enfermos, lo que supone un ahorro para el SNS. Hemos cuantificado el ahorro derivado de la participación en EECC sobre HTA esencial en un hospital de nivel terciario del Insalud. Pacientes y métodos: El ahorro se ha definido como la diferencia entre el gasto económico que suponía el cuidado de un paciente antes de ser incluido en un ensayo clínico (EC) y el que se genera durante su participación en el EC. El gasto que un paciente determinado estaba suponiendo para el SNS se ha calculado a partir de su historia clínica durante un período de tiempo igual a la duración del EC en el que participó. Se analizaron en cuatro EECC (tres con una duración de 52 semanas y uno de 14 semanas) tres partidas económicas que suponen un ahorro (total o parcial): a) fármacos antihipertensivos; b) pruebas complementarias, y c) visitas médicas. Resultados: En los cuatro EECC se incluyeron 73 pacientes con HTA esencial, de los cuales 59 enfermos fueron aleatorizados (81 por ciento) y 57 pacientes concluyeron los EECC. El ahorro global derivado de la participación de los 57 enfermos fue de 2.950.423 pesetas. La mayor parte de este ahorro correspondió a fármacos (70,7 por ciento). El ahorro en pruebas de laboratorio (14,1 por ciento) y visitas médicas (15,1 por ciento) fue similar. El ahorro medio derivado de la participación de un paciente en un EC durante 12 meses fue, como mínimo, de 70.564 pesetas corrientes (5.880 pesetas/paciente/mes).Conclusiones: La participación de pacientes con HTA esencial en EECC supone un ahorro considerable para el SNS (AU)
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Humanos , Renta , Ensayos Clínicos como Asunto , Hipertensión/tratamiento farmacológicoRESUMEN
We characterized the MHC-related 1 ( MR1) locus in two nonhuman primates species, Pongo pygmaeus and Pan troglodytes. MR1 cDNA sequences encoding several isoforms generated through alternative splicing were observed in both species. Amino acid alignment between the five species in which MR1 has been characterized to date - human, chimpanzee, orangutan, mouse, and rat - reveals a very high degree of conservation specially in the alpha1 and alpha2 domains of the molecule. The main differences concentrate in the transmembrane and cytoplasmic domains. In the three primates species there is a lysine residue inside the putative transmembrane domain which is not present in rodents. Furthermore, the MR1 cytoplasmic region is longer in rodents, with a conserved serine-containing motif that could be involved in endocytosis; remarkably, this motif is absent in the three primate species. We also describe the presence in the chimpanzee of a sequence homologous to the MR1P1 pseudogene previously found in humans.