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The information on heart transplantation (HT) in patients with Friedreich's Ataxia (FA) is scarce, and the few published case reports are limited to young patients with mild neurological manifestations. We present the case of a 58-year-old patient with advanced FA (Scale for the Assessment and Rating of Ataxia [SARA] score 30/40), wheelchair-bound for the last 16 years and had urinary incontinence, dysarthria, and neurosensorial deafness. The patient was admitted for a refractory arrhythmic storm and had previous hypertrophic cardiomyopathy that evolved to dilated cardiomyopathy with severely reduced left ventricular ejection fraction and recurrent ventricular arrhythmias. A multidisciplinary team discussed the HT option. The patient was aware of the risks and benefits and considered worthy of the intervention, so he was listed for HT. After a successful surgical intervention, the patient had a long postoperative stay in ICU. He required a high dose of vasopressors, underwent hemofiltration for one month, suffered critical illness myopathy, had several respiratory infections and delayed tracheal extubation. Two and a half months after HT and almost five months at the hospital, the patient was successfully discharged. FA patients with severe heart conditions should be carefully evaluated by a multidisciplinary team to decide the candidacy for HT.
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INTRODUCTION AND OBJECTIVES: The present report describes the clinical characteristics and outcomes of heart transplants in Spain and updates the data to 2019. METHODS: We describe the clinical characteristics and outcomes of heart transplants performed in Spain in 2019, as well as trends in this procedure from 2010 to 2018. RESULTS: In 2019, 300 transplants were performed (8794 since 1984; 2745 between 2010 and 2019). Compared with previous years, the most notable findings were the decreasing rate of urgent transplants (38%), and the consolidation of the type of circulatory support prior to transplant, with an almost complete disappearance of counterpulsation balloon (0.7%), stabilization in the use of extracorporeal membrane oxygenation (9.6%), and an increase in the use of ventricular assist devices (29.0%). Survival from 2016 to 2018 was similar to that from 2013 to 2015 (P=.34). Survival in both these periods was better than that from 2010 to 2012 (P=.002 and P=.01, respectively). CONCLUSIONS: Heart transplant activity has remained stable during the last few years, as have outcomes (in terms of survival). There has been a trend to a lower rate of urgent transplants and to a higher use of ventricular assist devices prior to transplant.
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Cardiología , Insuficiencia Cardíaca , Trasplante de Corazón , Insuficiencia Cardíaca/cirugía , Humanos , Sistema de Registros , Sociedades Médicas , España/epidemiologíaRESUMEN
Introducción y objetivos: Avances recientes en genética han permitido el descubrimiento de nuevos genes relacionados con la hipertensión arterial pulmonar, como TBX4 y KCNK3. El fenotipo y el pronóstico asociado a ellos se han detallado escasamente y se desconoce su papel en la población española. El objetivo de este estudio es caracterizar genotípicamente una cohorte española de pacientes con hipertensión arterial pulmonar idiopática y hereditaria, describiendo el fenotipo y los factores pronósticos asociados a BMPR2 y a los nuevos genes (KCNK3 y TBX4). Métodos: Se seleccionó a 165 pacientes adultos con hipertensión arterial pulmonar: 143 con hipertensión arterial pulmonar idiopática y 22 con hipertensión arterial pulmonar familiar. Se compararon las características basales y la supervivencia libre de eventos entre los distintos subgrupos, se analizaron los factores predictores de mal pronóstico y se llevó a cabo el cribado familiar. Resultados: El estudio genético fue positivo en 16 pacientes con hipertensión arterial pulmonar idiopática (11,10%) y 15 con hipertensión arterial pulmonar familiar (68,18%), y se hallaron 19 mutaciones en BMPR2, 4 en TBX4 y 3 en KCNK3. Se observó mayor supervivencia libre de eventos en las formas asociadas a TBX4 (p < 0,01). El diagnóstico en clases funcionales avanzadas fue el único factor pronóstico en las formas heredables. El cribado de familiares fue positivo en el 37,5%. Conclusiones: En la población española con hipertensión arterial pulmonar puede existir un sustrato genético diferente, con menor proporción de mutaciones en BMPR2. A la vista de nuestros resultados, las formas asociadas a TBX4 podrían conllevar un fenotipo más benigno, y el diagnóstico tardío sería un factor de mal pronóstico en las formas heredables de la enfermedad (AU)
Introduction and objectives: Recent advances in genetics have led to the discovery of new genes associated with pulmonary arterial hypertension, such as TBX4 and KCNK3. The phenotype and prognosis associated with these new genes have been scarcely described and their role in the Spanish population is unknown. The aim of this study was to characterize the genetics of a Spanish cohort of patients with idiopathic and hereditary pulmonary arterial hypertension and to describe the phenotype and prognostic factors associated with BMPR2 and the new genes (KCNK3 and TBX4). Methods: A total of 165 adult patients were screened for BMPR2, KCNK3, and TBX4 mutations, 143 with idiopathic pulmonary arterial hypertension and 22 with hereditary pulmonary arterial hypertension. Baseline characteristics and survival were compared among the different subgroups and predictors of poor outcomes were analyzed. We also performed family screening. Results: The genetic study identified a possibly associated mutation in 11.10% of the idiopathic cases (n = 16) and in 68.18% of the hereditary cases (n = 15). There were 19 mutations in BMPR2, 4 in TBX4, and 3 in KCNK3. The forms associated with TBX4 showed the highest survival rate (P < .01). Advanced functional class at diagnosis was the only factor associated with poor outcomes in the hereditary forms. In the family screening, 37.5% of relatives tested positive. Conclusions: The genetics of pulmonary arterial hypertension in the Spanish population may differ from other populations, with a lower proportion of BMPR2 causative mutations. In our cohort, TBX4-related forms of pulmonary arterial hypertension showed a more benign course and late diagnosis was the only predictor of adverse outcomes in the hereditary forms of the disease (AU)
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Humanos , Hipertensión Pulmonar/genética , Técnicas de Diagnóstico Molecular/métodos , Mutación/genética , Predisposición Genética a la Enfermedad , Pruebas Genéticas/métodos , Marcadores Genéticos , Genotipo , Enfermedades Genéticas Congénitas/genética , Tamizaje Masivo/métodosRESUMEN
No disponible
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Humanos , Masculino , Femenino , Enfermedad Veno-Oclusiva Pulmonar/complicaciones , Enfermedad Veno-Oclusiva Pulmonar/diagnóstico , Enfermedad Veno-Oclusiva Pulmonar/genética , Mutagénesis/genética , Diagnóstico Precoz , Enfermedades Pulmonares/diagnóstico , Enfermedades Pulmonares/genéticaRESUMEN
INTRODUCTION AND OBJECTIVES: Recent advances in genetics have led to the discovery of new genes associated with pulmonary arterial hypertension, such as TBX4 and KCNK3. The phenotype and prognosis associated with these new genes have been scarcely described and their role in the Spanish population is unknown. The aim of this study was to characterize the genetics of a Spanish cohort of patients with idiopathic and hereditary pulmonary arterial hypertension and to describe the phenotype and prognostic factors associated with BMPR2 and the new genes (KCNK3 and TBX4). METHODS: A total of 165 adult patients were screened for BMPR2, KCNK3, and TBX4 mutations, 143 with idiopathic pulmonary arterial hypertension and 22 with hereditary pulmonary arterial hypertension. Baseline characteristics and survival were compared among the different subgroups and predictors of poor outcomes were analyzed. We also performed family screening. RESULTS: The genetic study identified a possibly associated mutation in 11.10% of the idiopathic cases (n = 16) and in 68.18% of the hereditary cases (n = 15). There were 19 mutations in BMPR2, 4 in TBX4, and 3 in KCNK3. The forms associated with TBX4 showed the highest survival rate (P < .01). Advanced functional class at diagnosis was the only factor associated with poor outcomes in the hereditary forms. In the family screening, 37.5% of relatives tested positive. CONCLUSIONS: The genetics of pulmonary arterial hypertension in the Spanish population may differ from other populations, with a lower proportion of BMPR2 causative mutations. In our cohort, TBX4-related forms of pulmonary arterial hypertension showed a more benign course and late diagnosis was the only predictor of adverse outcomes in the hereditary forms of the disease.
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Receptores de Proteínas Morfogenéticas Óseas de Tipo II/genética , Hipertensión Pulmonar Primaria Familiar/genética , Proteínas del Tejido Nervioso/genética , Canales de Potasio de Dominio Poro en Tándem/genética , Proteínas de Dominio T Box/genética , Adulto , Hipertensión Pulmonar Primaria Familiar/fisiopatología , Femenino , Volumen Espiratorio Forzado , Predisposición Genética a la Enfermedad , Genotipo , Humanos , Masculino , Persona de Mediana Edad , Mutación , Fenotipo , Pronóstico , Capacidad de Difusión Pulmonar , España , Resistencia Vascular , Capacidad Vital , Prueba de Paso , Población Blanca/genética , Adulto JovenAsunto(s)
Efecto Fundador , Proteínas Serina-Treonina Quinasas/genética , Enfermedad Veno-Oclusiva Pulmonar/genética , Romaní/genética , Adulto , Portador Sano/etnología , Consanguinidad , Diagnóstico Precoz , Genes Recesivos , Humanos , Enfermedad Veno-Oclusiva Pulmonar/etnología , España/epidemiología , Adulto JovenRESUMEN
OBJECTIVES: To evaluate the interobserver reliability of echocardiographic findings of right ventricle (RV) dysfunction for prognosticating normotensive patients with pulmonary embolism (PE). METHODS: A central panel of cardiologists evaluated echocardiographic studies of 75 patients included in the PROTECT study for the following signs: RV diameter, RV/left ventricular (LV) diameter ratio, hypokinesis of the RV free wall, and tricuspid plane systolic excursion (TAPSE). Investigators used intraclass correlation to assess agreement between the measurements of the central panel and each of the local cardiologists. Investigators used the single weighted kappa statistic to test for agreement between readers of interpretation of RV enlargement and RV hypokinesis. RESULTS: The two observers had fair agreement (k = 0.45) for RV enlargement assessed by the RV diameter, and good agreement (k = 0.65) for RV enlargement assessed by the RV/LV diameter ratio. The interobserver reliability of the assessment whether hypokinesis of the RV free wall is present was good (к = 0.70), and whether RV dysfunction (assessed by TAPSE measurement) is present was very good (k = 0.86). The intraclass correlation for the RV/LV diameter ratio was fair (0.55; 95% confidence interval [CI], 0.37-0.69), for the RV diameter was good (0.70; 95% CI, 0.56-0.80), and for the TAPSE measurement was very good (0.85; 95% CI, 0.77-0.90). On Bland-Altman analysis, the mean differences for RV diameter, RV/LV diameter ratio and TAPSE measurement were 2.33 (±5.38), 0.06 (±0.23) and 0.08 (±2.20), respectively. CONCLUSION: TAPSE measurement is the least user dependent and most reproducible echocardiographic finding of RV dysfunction in normotensive patients with PE.
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Ecocardiografía/métodos , Embolia Pulmonar/complicaciones , Embolia Pulmonar/diagnóstico por imagen , Volumen Sistólico , Disfunción Ventricular Derecha/diagnóstico por imagen , Disfunción Ventricular Derecha/etiología , Anciano , Estudios de Cohortes , Femenino , Humanos , Hipertensión/complicaciones , Hipertensión/diagnóstico por imagen , Masculino , Persona de Mediana Edad , Variaciones Dependientes del Observador , Pronóstico , Estudios Prospectivos , Radiografía , Reproducibilidad de los Resultados , Medición de Riesgo , Sensibilidad y Especificidad , EspañaRESUMEN
Este artigo relata a experiência do Projeto ATO?Ação, Trabalho e Oportunidade: inclusão de pessoas com deficiência no trabalho em andamento no município de São Carlos desde 2008 a partir da operacionalização de um modelo de inclusão baseado na atividade. Trata-se de uma pesquisa interinstitucional desenvolvida academicamente por meio de uma atividade de extensão. As várias etapas desenvolvidas pela equipe interdisciplinar, os métodos empregados e os fundamentos teóricos que norteiam a consecução dos objetivos pretendidos são descritos. Os resultados quantitativos e qualitativos obtidos até o momento são analisados quanto aos elementos estratégicos facilitadores, bem como das relações de interesse que atuam como impedimentos para a participação das pessoas com deficiência no projeto e para a inclusão destas no trabalho. Verificou-se a necessidade de preparo da sociedade para a superação de barreiras atitudinais e arquitetônicas no ambiente de trabalho, além da difusão da cultura de inclusão e respeito às diferenças nas estruturas organizacionais, políticas e processos das empresas. Algumas propostas que poderiam contribuir para a eficiência de uma política pública de inclusão de pessoas com deficiência no trabalho concluem o presente estudo.(AU)
This article reports the experience of the Project ?ATO ?Ação, Trabalho e Oportunidade? (Action, Work and Opportunity): insertion of disabled people in the labor market in the municipality of São Carlos, state of Sao Paulo, which has been in progress since 2008 through the application of an insertion model based on the activity. It is an interinstitutional research academically developed through an extension activity. It describes the several stages developed by the interdisciplinary team, the methods applied, and the theoretical fundamentals that guide the achievement of the aimed targets. The quantitative and qualitative results found so far are analyzed with respect to the facilitating strategic elements as well as to the relations of interest that act as impediments to the participation of the mentally disabled in the project and for their insertion in the labor market. It was possible to observe that society needs to be prepared to overcome architectural and attitudinal barriers in the workplace, besides disseminating the concepts of inclusion culture and respect for differences in the organizational structures, policies and processes of companies. Some proposals that could contribute to the efficiency of a public policy of insertion of disabled people in the labor market close the present study.(AU)
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Humanos , Masculino , Femenino , Niño , Adolescente , Adulto , Persona de Mediana Edad , Personas con Discapacidad/psicología , Trabajo , Ajuste Social , Terapia OcupacionalRESUMEN
Este artigo relata a experiência do Projeto ATO?Ação, Trabalho e Oportunidade: inclusão de pessoas com deficiência no trabalho em andamento no município de São Carlos desde 2008 a partir da operacionalização de um modelo de inclusão baseado na atividade. Trata-se de uma pesquisa interinstitucional desenvolvida academicamente por meio de uma atividade de extensão. As várias etapas desenvolvidas pela equipe interdisciplinar, os métodos empregados e os fundamentos teóricos que norteiam a consecução dos objetivos pretendidos são descritos. Os resultados quantitativos e qualitativos obtidos até o momento são analisados quanto aos elementos estratégicos facilitadores, bem como das relações de interesse que atuam como impedimentos para a participação das pessoas com deficiência no projeto e para a inclusão destas no trabalho. Verificou-se a necessidade de preparo da sociedade para a superação de barreiras atitudinais e arquitetônicas no ambiente de trabalho, além da difusão da cultura de inclusão e respeito às diferenças nas estruturas organizacionais, políticas e processos das empresas. Algumas propostas que poderiam contribuir para a eficiência de uma política pública de inclusão de pessoas com deficiência no trabalho concluem o presente estudo.
This article reports the experience of the Project ?ATO ?Ação, Trabalho e Oportunidade? (Action, Work and Opportunity): insertion of disabled people in the labor market in the municipality of São Carlos, state of Sao Paulo, which has been in progress since 2008 through the application of an insertion model based on the activity. It is an interinstitutional research academically developed through an extension activity. It describes the several stages developed by the interdisciplinary team, the methods applied, and the theoretical fundamentals that guide the achievement of the aimed targets. The quantitative and qualitative results found so far are analyzed with respect to the facilitating strategic elements as well as to the relations of interest that act as impediments to the participation of the mentally disabled in the project and for their insertion in the labor market. It was possible to observe that society needs to be prepared to overcome architectural and attitudinal barriers in the workplace, besides disseminating the concepts of inclusion culture and respect for differences in the organizational structures, policies and processes of companies. Some proposals that could contribute to the efficiency of a public policy of insertion of disabled people in the labor market close the present study.