Monitorización ambulatoria de la presión arterial en pacientes con enfermedades oncohematológicas / Ambulatory blood pressure monitoring in patients with onco-hematological diseases

La hipertensión arterial (HTA) es una dolencia frecuente en los pacientes con neoplasias oncohematológicas activas o supervivientes a estas. Se estima que la prevalencia de HTA en esta población oscila entre el 30 y el 70%. La relación entre cáncer e HTA es multifactorial: factores de riesgo comunes, neoplasias que producen HTA a través de la secreción hormonal y, especialmente, fármacos quimioterápicos que producen HTA. La monitorización ambulatoria de presión arterial (MAPA) es una herramienta fundamental en el diagnóstico y adecuado control de la presión arterial, evitando tener que suspender o disminuir la dosis de tratamiento quimioterápico. Además, puede ayudar en el diagnóstico de la disfunción autonómica relacionada con ciertas enfermedades neoplásicas. (AU)

Hypertension (HT) is a frequent pathology in patients with active or surviving onco-haematological malignancies. It is estimated that the prevalence of HT in this population ranges between 30 and 70%. The relationship between cancer and HT is multifactorial: common risk factors, neoplasia that cause HT through hormonal secretion, and, especially, chemotherapy drugs that cause HT. Ambulatory blood pressure monitoring (ABPM) is a fundamental tool in the diagnosis and adequate control of blood pressure, avoiding having to suspend or reduce the dose of chemotherapy treatment. In addition, it can help in the diagnosis of autonomic dysfunction related to certain neoplastic pathologies. (AU)

Toxicidad cardiovascular y metabólica secundaria a sorafenib / Cardiovascular and metabolic toxicity secondary to sorafenib

Los inhibidores de la tirosinacinasa son una familia de fármacos quimioterápicos utilizados en primera y segunda línea de muchas neoplasias sólidas y hematológicas. Su toxicidad es relativamente baja, ya que el mecanismo de acción se fundamenta en la inhibición de algunas tirosinacinasas involucradas en la proliferación de las células neoplásicas. Sin embargo, este bloqueo no es selectivo, por lo que pueden producir efectos secundarios. Sorafenib se ha relacionado con la aparición de hipertensión arterial, alteraciones tiroideas, dolor abdominal o hiperamilasemia, entre otros. Deben conocerse los efectos secundarios de estos fármacos para una adecuada monitorización de los pacientes que evite la suspensión de estos agentes quimioterápicos. (AU)

Tyrosine kinase inhibitors are a family of chemotherapy drugs used in first and second line for many solid and hematological neoplasms. Its toxicity is relatively low, since the mechanism of action is based on the inhibition of some tyrosine kinases involved in the explosion of neoplastic cells. However, this blockade is not selective, so it can produce secondary effects. Sorafenib can produce arterial hypertension, thyroid disorders, abdominal pain or hyperamylasemia, among others. We must monitor these patients during treatment to avoid side effects. (AU)

[Ambulatory blood pressure monitoring in patients with onco-hematological diseases]. / Monitorización ambulatoria de la presión arterial en pacientes con enfermedades oncohematológicas.

Hypertension (HT) is a frequent pathology in patients with active or surviving onco-haematological malignancies. It is estimated that the prevalence of HT in this population ranges between 30 and 70%. The relationship between cancer and HT is multifactorial: common risk factors, neoplasia that cause HT through hormonal secretion, and, especially, chemotherapy drugs that cause HT. Ambulatory blood pressure monitoring (ABPM) is a fundamental tool in the diagnosis and adequate control of blood pressure, avoiding having to suspend or reduce the dose of chemotherapy treatment. In addition, it can help in the diagnosis of autonomic dysfunction related to certain neoplastic pathologies.

[Cardiovascular and metabolic toxicity secondary to sorafenib]. / Toxicidad cardiovascular y metabólica secundaria a sorafenib.

Tyrosine kinase inhibitors are a family of chemotherapy drugs used in first and second line for many solid and hematological neoplasms. Its toxicity is relatively low, since the mechanism of action is based on the inhibition of some tyrosine kinases involved in the explosion of neoplastic cells. However, this blockade is not selective, so it can produce secondary effects. Sorafenib can produce arterial hypertension, thyroid disorders, abdominal pain or hyperamylasemia, among others. We must monitor these patients during treatment to avoid side effects.

Apparent regional differences in the spectrum of BARD1 pathogenic variants in Spanish population and importance of copy number variants.

Only up to 25% of the cases in which there is a familial aggregation of breast and/or ovarian cancer are explained by germline mutations in the well-known BRCA1 and BRCA2 high-risk genes. Recently, the BRCA1-associated ring domain (BARD1), that partners BRCA1 in DNA repair, has been confirmed as a moderate-risk breast cancer susceptibility gene. Taking advantage of next-generation sequencing techniques, and with the purpose of defining the whole spectrum of possible pathogenic variants (PVs) in this gene, here we have performed a comprehensive mutational analysis of BARD1 in a cohort of 1946 Spanish patients who fulfilled criteria to be tested for germline pathogenic mutations in BRCA1 and BRCA2. We identified 22 different rare germline variants, being 5 of them clearly pathogenic or likely pathogenic large deletions, which account for 0.26% of the patients tested. Our results show that the prevalence and spectrum of mutations in the BARD1 gene might vary between different regions of Spain and expose the relevance to test for copy number variations.

Hypertension secondary to abdominal mass

Secondary arterial hypertension (HTN) can be caused by primary hyperaldosteronism, renovascular disease, sleep apnea syndrome, chronic kidney disease, drug use, etc. In addition, some urological disorders such as hydronephrosis can cause hypertension due to an increase in intraglomerular pressure that activates the renin angiotensin system.(AU)

La hipertensión arterial (HTA) secundaria engloba un amplio diagnóstico diferencial que incluye causas tan distintas como el hiperaldosteronismo primario, la enfermedad renovascular, el síndrome de apnea del sueño, la enfermedad renal crónica, el consumo de fármacos, etc. Existen, además, ciertos trastornos urológicos como la hidronefrosis que pueden producir HTA debido a un aumento de presión intraglomerular que active el sistema renina-angiotensina.(AU)

Hypertension secondary to abdominal mass.

Secondary arterial hypertension (HTN) can be caused by primary hyperaldosteronism, renovascular disease, sleep apnea syndrome, chronic kidney disease, drug use, etc. In addition, some urological disorders such as hydronephrosis can cause hypertension due to an increase in intraglomerular pressure that activates the renin angiotensin system.

Hipertensión arterial en el paciente oncológico con tratamiento con anti-angiogénicos / Arterial hypertension in cancer patients treated with antiangiogenic agents

La mejora de la supervivencia de los pacientes con cáncer ha llevado consigo un incremento en la aparición de enfermedad cardiovascular (ECV). Esto es debido al aumento de la edad de los sujetos y a los efectos secundarios de los agentes antineoplásicos. La aparición de hipertensión arterial (HTA) en los pacientes tratados con fármacos anti-angiogénicos es un efecto adverso común, que puede obligar a reducir la dosis de quimioterapia o incluso a suspenderla. Presentamos los casos de tres personas tratadas con distintos anti-angiogénicos, y que desarrollaron HTA secundaria. (AU)

Survival of neoplasms has improved significantly in recent years. An increase in the incidence of cardiovascular disease has been observed. This is due to increasing age of patients and the side effects of chemotherapy. Anti-angiogenic drugs frequently cause hypertension. This may force the reduction or suspension of chemotherapy treatment. We present the cases of three patients treated with different anti-angiogenic drugs. All three developed secondary arterial hypertension. (AU)

[Arterial hypertension in cancer patients treated with antiangiogenic agents]. / Hipertensión arterial en el paciente oncológico con tratamiento con anti-angiogénicos.

Survival of neoplasms has improved significantly in recent years. An increase in the incidence of cardiovascular disease has been observed. This is due to increasing age of patients and the side effects of chemotherapy. Anti-angiogenic drugs frequently cause hypertension. This may force the reduction or suspension of chemotherapy treatment. We present the cases of three patients treated with different anti-angiogenic drugs. All three developed secondary arterial hypertension.

Hipertensión arterial renovascular secundaria a arteritis de Takayasu / Renovascular hypertension secondary to Takayasu arteritis

La hipertensión arterial (HTA) secundaria consiste en un aumento de la presión arterial debido a una causa identificable. Se estima una prevalencia alrededor del 5-15% de las personas con HTA. La búsqueda de HTA secundaria en todos los pacientes hipertensos no es viable ni costo-efectiva. Sin embargo, hay una serie de características que obligan a descartarla, como son el debut de HTA antes de los 40 años, empeoramiento agudo de HTA, HTA resistente, presencia de amplia lesión de órgano diana o alteraciones clínicas-analíticas, etc. Es importante detectar a estos pacientes ya que los tratamientos pueden ser curativos, especialmente en jóvenes. Presentamos el caso de un varón de 46 años que debutó con una urgencia hipertensiva y hemorragia subaracnoidea por rotura aneurismática. El estudio de causas secundarias resultó diagnóstico para una estenosis de la arteria renal debida a una arteritis de Takayasu en estadio cicatricial

Secondary arterial hypertension (HT) is an increase in blood pressure due to a recognisable cause. It is estimated that the prevalence of people with HT is around 5%-15%. The search for secondary HT in all hypertensive patients is neither feasible nor cost-effective. However, there are a series of signs that force us to discount its diagnosis such as newly diagnosed hypertension before the age of 40, acute worsening of hypertension, resistant hypertension, the presence of extensive organ injury or clinical-analytical alterations, etc. It is important to diagnosis these patients since treatments can be curative, especially in young people. We present the case of a 46-year-old man with hypertensive emergency and subarachnoid haemorrhage due to aneurysmal rupture. The study of secondary causes was diagnostic for renal artery stenosis due to Takayasu arteritis in the scarring stage

La disfunción autonómica en el paciente con enfermedad neurodegenerativa / Autonomic dysfunction in the patient with neurodegenerative disease

La disfunción autonómica es una enfermedad muy frecuente en las alfa-sinucleoinopatías (enfermedad de Parkinson, demencia por cuerpos de Lewy, atrofia multisistémica). A nivel cardiovascular puede producir síntomas como hipotensión ortostática, hipertensión supina o disminución de la respuesta de la frecuencia cardiaca a estímulos. Para el diagnóstico es fundamental una sospecha clínica y una exploración física minuciosa, tomando la presión arterial tanto en posición de decúbito supino como en bipedestación. El electrocardiograma puede mostrar un alargamiento de los intervalos PR y QT, mientras que la monitorización ambulatoria de presión arterial de 24 h aporta información sobre los patrones de presión arterial. La confirmación de la disfunción simpática cardiaca puede realizarse con una gammagrafía miocárdica de inervación con 123-I-metilbencilguanidina (123-I-MIBG), ya que refleja la captación noradrenérgica neuronal específica. A continuación presentamos el caso de un varón con enfermedad de Parkinson que tras un completo estudio fue diagnosticado de disfunción autonómica cardiovascular

Autonomic dysfunction is a common condition in the alpha-synucleinopathies (Parkinson's disease, dementia with Lewy bodies, multiple system atrophy). Cardiovascular symptoms may include orthostatic hypotension, supine hypertension or decreased heart rate response. A clinical suspicion and physical examination are essential for diagnosis, taking blood pressure in supine and standing positions. The electrocardiogram may show a prolongation of the PR and QT intervals, while 24-hour ambulatory blood pressure monitoring provides information on blood pressure patterns. Cardiac sympathetic dysfunction can be confirmed by an innervation myocardial scintigraphy with 123-I-methylbenzylguanidine (123-I-MIBG). This can reflect specific neuronal noradrenergic uptake.We present the case of a man with Parkinson's disease who was diagnosed with cardiovascular autonomic dysfunction after a complete study

[Renovascular hypertension secondary to Takayasu arteritis]. / Hipertensión arterial renovascular secundaria a arteritis de Takayasu.

Secondary arterial hypertension (HT) is an increase in blood pressure due to a recognisable cause. It is estimated that the prevalence of people with HT is around 5%-15%. The search for secondary HT in all hypertensive patients is neither feasible nor cost-effective. However, there are a series of signs that force us to discount its diagnosis such as newly diagnosed hypertension before the age of 40, acute worsening of hypertension, resistant hypertension, the presence of extensive organ injury or clinical-analytical alterations, etc. It is important to diagnosis these patients since treatments can be curative, especially in young people. We present the case of a 46-year-old man with hypertensive emergency and subarachnoid haemorrhage due to aneurysmal rupture. The study of secondary causes was diagnostic for renal artery stenosis due to Takayasu arteritis in the scarring stage.

[Autonomic dysfunction in the patient with neurodegenerative disease]. / La disfunción autonómica en el paciente con enfermedad neurodegenerativa.

Autonomic dysfunction is a common condition in the alpha-synucleinopathies (Parkinson's disease, dementia with Lewy bodies, multiple system atrophy). Cardiovascular symptoms may include orthostatic hypotension, supine hypertension or decreased heart rate response. A clinical suspicion and physical examination are essential for diagnosis, taking blood pressure in supine and standing positions. The electrocardiogram may show a prolongation of the PR and QT intervals, while 24-hour ambulatory blood pressure monitoring provides information on blood pressure patterns. Cardiac sympathetic dysfunction can be confirmed by an innervation myocardial scintigraphy with 123-I-methylbenzylguanidine (123-I-MIBG). This can reflect specific neuronal noradrenergic uptake. We present the case of a man with Parkinson's disease who was diagnosed with cardiovascular autonomic dysfunction after a complete study.

SEOM clinical guideline on hereditary colorectal cancer (2019).

In the last 2 decades, clinical genetics on hereditary colorectal syndromes has shifted from just a molecular characterization of the different syndromes to the estimation of the individual risk of cancer and appropriate risk reduction strategies. In the last years, new specific therapies for some subgroups of patients have emerged as very effective alternatives. At the same time, germline multigene panel testing by next-generation sequencing (NGS) technology has become the new gold standard for molecular genetics.

La terapia de activación de barorreceptores, un paso más en el tratamiento de la hipertensión arterial resistente y la insuficiencia cardiaca / Baroreflex activation therapy: One more step in the treatment of resistant arterial hypertension and chronic heart failure

En la actualidad son cada vez más los pacientes con hipertensión arterial refractaria (HTAR) que sufren insuficiencia cardiaca (IC) en fases avanzadas y que precisan dispositivos implantables para su tratamiento. Presentamos el caso de un paciente con un desfibrilador automático implantable (DAI) que precisó la colocación de un dispositivo de terapia de activación de barorreceptores (TAB) del seno carotídeo con la doble indicación de IC y HTAR. Hasta donde sabemos, se trata del primer caso realizado en nuestro país

The number of patients who suffer refractory arterial hypertension and chronic heart failure in advanced stages is currently increasing. The case is presented of a patient with an implantable cardioverter defibrillator, and with the dual indication of chronic heart failure and refractory arterial hypertension, who required the implanting of a baroreceptors activation therapy device of the carotid sinus. As far as it is known, it is the first case reported in Spain?

[Baroreflex activation therapy: One more step in the treatment of resistant arterial hypertension and chronic heart failure]. / La terapia de activación de barorreceptores, un paso más en el tratamiento de la hipertensión arterial resistente y la insuficiencia cardiaca.

The number of patients who suffer refractory arterial hypertension and chronic heart failure in advanced stages is currently increasing. The case is presented of a patient with an implantable cardioverter defibrillator, and with the dual indication of chronic heart failure and refractory arterial hypertension, who required the implanting of a baroreceptors activation therapy device of the carotid sinus. As far as it is known, it is the first case reported in Spain?

Perfil actual de los programas de cesación de tabaquismo en Chile / Current profile of smoking cessation programs in Chile

Resumen Introducción: En Chile, la prevalencia de tabaquismo es cercana al 40%. En la actualidad, a pesar que los tratamientos de cesación de tabaquismo son costo-efectivos, sólo el 14% de la población tiene acceso. El objetivo de esta revisión es describir la evidencia actual que existe en Chile en relación a los programas de cesación tabáquica. Metodología: Se realizó una revisión bibliográfica en las bases de datos Scielo y Pubmed. Los criterios de inclusión fueron artículos desde 2009 a 2015 que presentaran información acerca de programas de cesación del tabaquismo. Se seleccionaron cuatro estudios. Se analizaron los diseños y metodologías de trabajo, la tasa de éxito, seguimiento y los profesionales que participaron en los programas. Resultados: Se encontraron tres programas en el sistema público y uno de una clínica privada. Las tasas de éxito fueron similares en tres de ellos, fluctuando entre 37% a los 12 meses y 48% en otro estudio, y 34% a los 6 meses, y otro grupo que tuvo sólo un 14% de éxito al año. Todos realizaron seguimientos hasta el año de completado el tratamiento, y los profesionales involucrados en los programas fueron médico, psicólogo y enfermera, agregándose kinesiólogo en uno. Conclusiones: A nivel nacional, actualmente la información disponible sobre los programas de cesación de tabaquismo es escasa. La metodología de trabajo es similar en los estudios encontrados, pero no existe un consenso a nivel nacional como una guía clínica, para el tratamiento del tabaquismo, por lo que es necesario desarrollarlas para poder implementar estos programas en diversas instituciones de salud de nuestro país.

Introduction: In Chile, the prevalence of smoking is close to 40%. At present, even though smoking cessation treatments are cost-effective, only 14% of the population has access to them. The objective of this review is to describe the current evidence that exists in Chile in relation to smoking cessation programs. Methodology: A literature review was made in the Scielo and Pubmed databases. The inclusion criteria were articles from 2009 to 2015 that presented information about smoking cessation programs. Four studies were selected. We analyzed the design of cessation therapy programs, success rates, follow-up and the professionals who participated. Results: Three programs were found in the public system and one in a private clinic. The success rates were similar in three of them, ranging from 37% at 12 months and 48% in another study, and 34% at 6 months, and another group that had only 14% success at one year. All carried out follow-ups until the year of completion of the treatment, and the professionals involved in the programs were physician, psychologist and nurse, adding the kinesiologists in one. Conclusions: At the national level, information on smoking cessation programs is currently scarce. The design and methodology of programs were similar among studies, but there was no consensus at the national level as a clinical guide for the treatment of smoking, so it is necessary to develop them in order to implement these programs in different health institutions in our country.