ATIPICIDADES EN UN CASO CON DISPLASIA ARRITMOGÉNICA DEL VENTRÍCULO DERECHO O ENFERMEDAD DE UHL / Report of an atypical case with arrhythmogenic right ventricular dysplasia or Uhl´s anomaly

ResumenLa displasia arritmogénica del ventrículo derecho es una miocardiopatía caracterizada por arritmias ventriculares malignas y anomalías estructurales progresivas, que afectan primariamente al ventrículo derecho. Se presenta por una sustitución progresiva parcial o masiva del miocardio por tejido adiposo o fibroadiposo. La enfermedad de Uhl puede ser una manifestación extrema y generalizada de la displasia arritmogénica del ventrículo derecho, trastorno congénito muy poco frecuente con ausencia de miocardio ventricular derecho, por lo que sus paredes son delgadas como el papel. Se comenta el caso de un paciente masculino de 56 años que presentó pérdida de conocimiento y se le realizó el diagnóstico clínico y ecocardiográfico. Se discuten las características clínicas, el diagnóstico y la conducta a seguir ante esta cardiopatía potencialmente letal en pacientes que sufren síncope, taquicardia ventricular o parada cardíaca. / AbstractArrhythmogenic right ventricular dysplasia is a cardiomyopathy characterized by malignant ventricular arrhythmias and progressive structural abnormalities, affecting primarily the right ventricle. It appears due to a partial or massive progressive replacement of the myocardium by fibroadipose or adipose tissue. Uhl's disease may be an extreme and widespread manifestation of arrhythmogenic right ventricular dysplasia, a rare congenital disorder with absence of right ventricular myocardium, so that its walls are paper thin. The case of a 56 year old male patient who had loss of consciousness and underwent clinical and echocardiographic diagnosis is presented. The clinical features, diagnosis and action to take against this potentially fatal heart disease in patients with syncope, ventricular tachycardia or cardiac arrest are discussed

Overview of recent TJ-II stellarator results

The main results obtained in the TJ-II stellarator in the last two years are reported. The most important topics investigated have been modelling and validation of impurity transport, validation of gyrokinetic simulations, turbulence characterisation, effect of magnetic configuration on transport, fuelling with pellet injection, fast particles and liquid metal plasma facing components. As regards impurity transport research, a number of working lines exploring several recently discovered effects have been developed: the effect of tangential drifts on stellarator neoclassical transport, the impurity flux driven by electric fields tangent to magnetic surfaces and attempts of experimental validation with Doppler reflectometry of the variation of the radial electric field on the flux surface. Concerning gyrokinetic simulations, two validation activities have been performed, the comparison with measurements of zonal flow relaxation in pellet-induced fast transients and the comparison with experimental poloidal variation of fluctuations amplitude. The impact of radial electric fields on turbulence spreading in the edge and scrape-off layer has been also experimentally characterized using a 2D Langmuir probe array. Another remarkable piece of work has been the investigation of the radial propagation of small temperature perturbations using transfer entropy. Research on the physics and modelling of plasma core fuelling with pellet and tracer-encapsulated solid-pellet injection has produced also relevant results. Neutral beam injection driven Alfvénic activity and its possible control by electron cyclotron current drive has been examined as well in TJ-II. Finally, recent results on alternative plasma facing components based on liquid metals are also presentedThis work has been carried out within the framework of the EUROfusion Consortium and has received funding from the Euratom research and training programme 2014–2018 under Grant Agreement No. 633053. It has been partially funded by the Ministerio de Ciencia, Inovación y Universidades of Spain under projects ENE2013-48109-P, ENE2015-70142-P and FIS2017-88892-P. It has also received funds from the Spanish Government via mobility grant PRX17/00425. The authors thankfully acknowledge the computer resources at MareNostrum and the technical support provided by the Barcelona S.C. It has been supported as well by The Science and Technology Center in Ukraine (STCU), Project P-507F

Ventricular Cardiomyopathy not compact. About his association with other extracardiac entities, alternative therapies and prognostic factors

La hipertrabeculación/no-compactación del ventrículo izquierdo (LVHT) está asociada, en la mayoría de los casos, con una enfermedad del músculo cardiaco o esquelético hereditaria o con anomalías cromosómicas. En dependencia del estudio, más de dos tercios de los pacientes con LVHT también presentan una enfermedad neuromuscular (NMD). Las NMD asociadas con LVHT con mayor frecuencia son el syndrome de Barth, las enfermedades mitocondriales, zaspopatía, y las distrofias miotónicas. Las NMD que solo están presentes con la LVHT ocasionalmente son la distrobrevinopatía, laminopatías, distrofinopatías, deficiencia de miodelinato de aminasa, miositis corporal de inclusión hereditaria, y la neuropatía CMT1A. Una relación causal entre las NMD y la LVHT es probable, aunque la relación exacta y la asociación patomecánica permanecen esquivas. La relación patogénica cercana está apoyada por el hecho que el fenómeno de LVHT adquirida ocurre predominantemente en las NMD. Una remisión consecuente de los pacientes con LVHT al neurólogo, la remisión consecuente de los pacientes con NMD al cardiólogo, e investigaciones familiares pueden ayudar a clarificar asuntos no resueltos aún concernientes a la patogénesis, el curso y el pronóstico de la LVHT.Hipertrabeculação / não-compactação do ventrículo esquerdo (LVHT) está associada, na maioria dos casos, uma doença do coração ou anomalias cromossómicas ou músculo esquelético hereditárias. Dependendo do estudo, mais de dois terços das pacientes com LVHT também têm uma doença neuromuscular (NMD). O LVHT NMD associado com mais frequência são a síndrome de Barth, doenças mitocondriais, zaspopatía, e distrofia miotônica. O NMD que só estão presentes com LVHT são ocasionalmente distrobrevinopatía, laminopatias, distrofinopatias, miodelinato de deficiência deaminase, hereditária miosite de corpos de inclusão, e CMT1A neuropatia. A relação causal entre NMD e LVHT é provável, mas a relação de parceria e exatas pathomechanics ainda imperceptíveis. A relação próxima patogênico é apoiada pelo fato de que o fenômeno da LVHT adquirida ocorre predominantemente na NMD. Uma referência consistente de pacientes com LVHT o neurologista, o posterior encaminhamento de pacientes com cardiologista NMD, e pesquisa da família pode ajudar a esclarecer questões ainda não resolvidas relativas a patogênese, curso e prognóstico da LVHT.Hypertrabeculation / non-compaction du ventricule gauche (LVHT) est associé, dans la plupart des cas, une maladie du cœur ou squelettiques anomalies chromosomiques héréditaires ou musculaire. Selon l'étude, plus de deux tiers des patients atteints LVHT ont aussi une maladie neuromusculaire (NMD). Le LVHT NMD associé avec le plus fréquemment sont les syndrome de Barth, les maladies mitochondriales, zaspopatía, et la dystrophie myotonique. Le NMD qui ne sont présents avec LVHT sont occasionnellement distrobrevinopatía, laminopathies, dystrophinopathies, miodelinato de la carence en désaminase, héréditaire myosite à corps d'inclusion, et CMT1A neuropathie. Une relation causale entre la NMD et LVHT est probable, mais la relation et de partenariat exactes pathomécanique reste insaisissable. La relation proche pathogène est étayée par le fait que le phénomène de LVHT acquis se produit principalement dans le NMD. Un renvoi cohérente des patients atteints de LVHT le neurologue, le renvoi ultérieur des patients atteints de cardiologue NMD, et la recherche de la famille peut aider à clarifier les questions encore en suspens concernant la pathogénèse, le déroulement et le pronostic de LVHT.Hypertrabeculation / non-compaction of the left ventricle (LVHT) is associated, in most cases, a disease of the heart or skeletal hereditary chromosomal abnormalities or muscle. Depending on the study, more than two thirds of patients with LVHT also have a neuromuscular disease (NMD). The NMD LVHT associated with most frequently are the Barth syndrome, mitochondrial diseases, zaspopatía, and myotonic dystrophy. The NMD that are only present with LVHT are occasionally distrobrevinopatía, laminopathies, dystrophinopathies, miodelinato of deaminase deficiency, hereditary inclusion body myositis, and CMT1A neuropathy. A causal relationship between NMD and LVHT is likely, but the exact relationship and partnership pathomechanics remain elusive. The nearby pathogenic relationship is supported by the fact that the phenomenon of acquired LVHT occurs predominantly in the NMD. A consistent referral of patients with LVHT the neurologist, the subsequent referral of patients with NMD cardiologist, and family research can help clarify matters still unresolved concerning the pathogenesis, course and prognosis of LVHT

Ventricular Cardiomyopathy not compact. About the diagnosis, complementary examinations and diagnostic errors.

La miocardiopatía no compactada (MVNC) es una entidad primaria de origen genético, caracterizada por anomalías en la morfología de la pared ventricular, provocada aparentemente por una alteración en la morfogénesis endomiocárdica durante el desarrollo embrionario, evidenciándose la presencia y persistencia de trabeculaciones acompañadas de recesos intertrabeculares que son perfundidos desde la cavidad ventricular, estos espacios lacunares intertrabeculares no tienen conexión con el árbol coronario. Su pronóstico está determinado por el grado de disfunción ventricular izquierda, la gravedad de las arritmias emergentes y por la ocurrencia de eventos tromboembólicos, síntomas estos que caracterizan la clínica de esta entidad. Los criterios diagnósticos validados incluyen los aportes del ecocardiograma, la resonancia magnética y se suma actualmente la tomografía axial computarizada. Existen entidades cardiacas que aunque comparten algunas características morfológicas de la estructura miocárdica, no cumplen con todos los criterios diagnósticos de la misma.La non-compaction cardiomyopathie (MVNC) est une entité génétique primaire caractérisée par des anomalies dans la morphologie de la paroi ventriculaire, apparemment causée par une perturbation dans la morphogenèse endomyocardique cours du développement embryonnaire, ce qui démontre la présence et la persistance de trabéculations accompagné par des évidements intertrabéculaires qui sont perfusé de la cavité ventriculaire, ces espaces lacunaires intertrabéculaires ont aucun lien avec l'arbre coronarien. Son pronostic vital est déterminé par le degré de dysfonction ventriculaire gauche, la gravité des arythmies et la survenue d'événements thromboemboliques émergents, tels symptômes qui caractérisent cette entité clinique. Critères diagnostiques validés comprennent les contributions de échocardiogramme, résonance magnétique et totalise actuellement tomodensitométrie. Il existe des entités de cœur, mais partagent certaines caractéristiques morphologiques de la structure du myocarde, ne répondent pas à tous les critères de diagnostic pour elle.A cardiomiopatia não compactada (mVNC) é uma entidade genética primária caracterizada por anormalidades na morfologia da parede ventricular, aparentemente, causada por um distúrbio na morfogénese endomyocardial durante o desenvolvimento embrionário, demonstrando a presença e persistência de trabéculas acompanhada por recessos intertrabecular que são perfundidos a partir da cavidade ventricular, esses espaços lacunares intertrabecular têm nenhuma conexão com a árvore coronariana. Sua prognóstico é determinada pelo grau de disfunção ventricular esquerda, arritmias e gravidade da ocorrência de acontecimentos tromboembólicos emergentes, tais sintomas que caracterizam esta entidade clínica. Critérios de diagnóstico validados incluem as contribuições de ecocardiograma, ressonância magnética e, atualmente, totaliza tomografia computadorizada. Há entidades cardíacos, mas compartilham algumas características morfológicas da estrutura do miocárdio, não preenchem todos os critérios diagnósticos para ele.The non-compaction cardiomyopathy (MVNC) is a primary genetic entity characterized by abnormalities in the morphology of the ventricular wall, apparently caused by a disturbance in endomyocardial morphogenesis during embryonic development, demonstrating the presence and persistence of trabeculations accompanied by recesses intertrabecular that are perfused from the ventricular cavity, these spaces lacunar intertrabecular have no connection to the coronary tree. His prognosis is determined by the degree of left ventricular dysfunction, severity of arrhythmias and emerging occurrence of thromboembolic events, such symptoms that characterize this clinical entity. Validated diagnostic criteria include the contributions of echocardiogram, magnetic resonance and currently totals computed tomography. There are heart entities but share some morphological characteristics of myocardial structure, do not meet all the diagnostic criteria for it

Ventricular Cardiomyopathy not compact. About his association with other extracardiac entities, alternative therapies and prognostic factors

La hipertrabeculación/no-compactación del ventrículo izquierdo (LVHT) está asociada, en la mayoría de los casos, con una enfermedad del músculo cardiaco o esquelético hereditaria o con anomalías cromosómicas. En dependencia del estudio, más de dos tercios de los pacientes con LVHT también presentan una enfermedad neuromuscular (NMD). Las NMD asociadas con LVHT con mayor frecuencia son el syndrome de Barth, las enfermedades mitocondriales, zaspopatía, y las distrofias miotónicas. Las NMD que solo están presentes con la LVHT ocasionalmente son la distrobrevinopatía, laminopatías, distrofinopatías, deficiencia de miodelinato de aminasa, miositis corporal de inclusión hereditaria, y la neuropatía CMT1A. Una relación causal entre las NMD y la LVHT es probable, aunque la relación exacta y la asociación patomecánica permanecen esquivas. La relación patogénica cercana está apoyada por el hecho que el fenómeno de LVHT adquirida ocurre predominantemente en las NMD. Una remisión consecuente de los pacientes con LVHT al neurólogo, la remisión consecuente de los pacientes con NMD al cardiólogo, e investigaciones familiares pueden ayudar a clarificar asuntos no resueltos aún concernientes a la patogénesis, el curso y el pronóstico de la LVHT.Hipertrabeculação / não-compactação do ventrículo esquerdo (LVHT) está associada, na maioria dos casos, uma doença do coração ou anomalias cromossómicas ou músculo esquelético hereditárias. Dependendo do estudo, mais de dois terços das pacientes com LVHT também têm uma doença neuromuscular (NMD). O LVHT NMD associado com mais frequência são a síndrome de Barth, doenças mitocondriais, zaspopatía, e distrofia miotônica. O NMD que só estão presentes com LVHT são ocasionalmente distrobrevinopatía, laminopatias, distrofinopatias, miodelinato de deficiência deaminase, hereditária miosite de corpos de inclusão, e CMT1A neuropatia. A relação causal entre NMD e LVHT é provável, mas a relação de parceria e exatas pathomechanics ainda imperceptíveis. A relação próxima patogênico é apoiada pelo fato de que o fenômeno da LVHT adquirida ocorre predominantemente na NMD. Uma referência consistente de pacientes com LVHT o neurologista, o posterior encaminhamento de pacientes com cardiologista NMD, e pesquisa da família pode ajudar a esclarecer questões ainda não resolvidas relativas a patogênese, curso e prognóstico da LVHT.Hypertrabeculation / non-compaction du ventricule gauche (LVHT) est associé, dans la plupart des cas, une maladie du cœur ou squelettiques anomalies chromosomiques héréditaires ou musculaire. Selon l'étude, plus de deux tiers des patients atteints LVHT ont aussi une maladie neuromusculaire (NMD). Le LVHT NMD associé avec le plus fréquemment sont les syndrome de Barth, les maladies mitochondriales, zaspopatía, et la dystrophie myotonique. Le NMD qui ne sont présents avec LVHT sont occasionnellement distrobrevinopatía, laminopathies, dystrophinopathies, miodelinato de la carence en désaminase, héréditaire myosite à corps d'inclusion, et CMT1A neuropathie. Une relation causale entre la NMD et LVHT est probable, mais la relation et de partenariat exactes pathomécanique reste insaisissable. La relation proche pathogène est étayée par le fait que le phénomène de LVHT acquis se produit principalement dans le NMD. Un renvoi cohérente des patients atteints de LVHT le neurologue, le renvoi ultérieur des patients atteints de cardiologue NMD, et la recherche de la famille peut aider à clarifier les questions encore en suspens concernant la pathogénèse, le déroulement et le pronostic de LVHT.Hypertrabeculation / non-compaction of the left ventricle (LVHT) is associated, in most cases, a disease of the heart or skeletal hereditary chromosomal abnormalities or muscle. Depending on the study, more than two thirds of patients with LVHT also have a neuromuscular disease (NMD). The NMD LVHT associated with most frequently are the Barth syndrome, mitochondrial diseases, zaspopatía, and myotonic dystrophy. The NMD that are only present with LVHT are occasionally distrobrevinopatía, laminopathies, dystrophinopathies, miodelinato of deaminase deficiency, hereditary inclusion body myositis, and CMT1A neuropathy. A causal relationship between NMD and LVHT is likely, but the exact relationship and partnership pathomechanics remain elusive. The nearby pathogenic relationship is supported by the fact that the phenomenon of acquired LVHT occurs predominantly in the NMD. A consistent referral of patients with LVHT the neurologist, the subsequent referral of patients with NMD cardiologist, and family research can help clarify matters still unresolved concerning the pathogenesis, course and prognosis of LVHT

Trisomy 8, a Cytogenetic Abnormality in Myelodysplastic Syndromes, Is Constitutional or Not?

Isolated trisomy 8 is not considered presumptive evidence of myelodysplastic syndrome (MDS) in cases without minimal morphological criteria. One reason given is that trisomy 8 (+8) can be found as a constitutional mosaicism (cT8M). We tried to clarify the incidence of cT8M in myeloid neoplasms, specifically in MDS, and the diagnostic value of isolated +8 in MDS. Twenty-two MDS and 10 other myeloid neoplasms carrying +8 were studied. Trisomy 8 was determined in peripheral blood by conventional cytogenetics (CC) and on granulocytes, CD3+ lymphocytes and oral mucosa cells by fluorescence in situ hybridization (FISH). In peripheral blood CC, +8 was seen in 4/32 patients. By FISH, only one patient with chronic myelomonocytic leukemia showed +8 in all cell samples and was interpreted as a cT8M. In our series +8 was acquired in all MDS. Probably, once discarded cT8M by FISH from CD3+ lymphocytes and non-hematological cells, +8 should be considered with enough evidence to MDS.This work was supported by Instituto de Salud Carlos III, Ministerio de Sanidad y Consumo, Spain (FI07/00107, CA08/00141; PI07/1009 and PI 11/02010); Red Temática de InvestigaciónCooperativa en Cáncer (RTICC, FEDER) (RD06/0020/0031 and RD07/0020/2004; RD12/0036/0044); SGR 541/2009 (“Agència de Gestió d’Ajuts Universitaris i de Recerca”, Departament d’Innovació, Universitats i Empresa); Acción COST BM0801: European Genetic and Epigentic Study on AML and MDS; Sociedad Española de Hematología y Hemoterapia (SEHH) 2011 and 2012 fellowships

Trisomy 8, A Cytogenetic Abnormality In Myelodysplastic Syndromes, Is Constitutional Or Not?

Isolated trisomy 8 is not considered presumptive evidence of myelodysplastic syndrome (MDS) in cases without minimal morphological criteria. One reason given is that trisomy 8 (+8) can be found as a constitutional mosaicism (cT8M). We tried to clarify the incidence of cT8M in myeloid neoplasms, specifically in MDS, and the diagnostic value of isolated +8 in MDS. Twenty-two MDS and 10 other myeloid neoplasms carrying +8 were studied. Trisomy 8 was determined in peripheral blood by conventional cytogenetics (CC) and on granulocytes, CD3+ lymphocytes and oral mucosa cells by fluorescence in situ hybridization (FISH). In peripheral blood CC, +8 was seen in 4/32 patients. By FISH, only one patient with chronic myelomonocytic leukemia showed +8 in all cell samples and was interpreted as a cT8M. In our series +8 was acquired in all MDS. Probably, once discarded cT8M by FISH from CD3+ lymphocytes and non-hematological cells, +8 should be considered with enough evidence to MDS

Trisomy 8, a cytogenetic abnormality in Myelodysplastic Syndromes, is constitutional or not?

Isolated trisomy 8 is not considered presumptive evidence of myelodysplastic syndrome (MDS) in cases without minimal morphological criteria. One reason given is that trisomy 8 (+8) can be found as a constitutional mosaicism (cT8M). We tried to clarify the incidence of cT8M in myeloid neoplasms, specifically in MDS, and the diagnostic value of isolated +8 in MDS. Twenty-two MDS and 10 other myeloid neoplasms carrying +8 were studied. Trisomy 8 was determined in peripheral blood by conventional cytogenetics (CC) and on granulocytes, CD3+ lymphocytes and oral mucosa cells by fluorescence in situ hybridization (FISH). In peripheral blood CC, +8 was seen in 4/32 patients. By FISH, only one patient with chronic myelomonocytic leukemia showed +8 in all cell samples and was interpreted as a cT8M. In our series +8 was acquired in all MDS. Probably, once discarded cT8M by FISH from CD3+ lymphocytes and non-hematological cells, +8 should be considered with enough evidence to MDS

Patient Characteristics.

<p><b>Abbreviations:</b> +8, trisomy 8; PB, peripheral blood; PHA, phytohemagglutinin; RA, refractory anemia; RCUD, refractory cytopenia with unilineage dysplasia; RCMD, refractory cytopenia with multilineage dysplasia; RAEB, RA with excess of blasts; MDS-U, myelodysplastic syndrome unclassified; RARS-T, RA with ringed sideroblasts and thrombocytosis; CMML, chronic myelomonocytic leukemia; AML, acute myeloid leukemia; AML-MDRC, AML with myelodysplasia-related changes; AML NOS, AML not otherwise specified; APL, acute promyelocytic leukemia. In bold patient with constitutional trisomy 8 mosaicism.</p><p>Patient Characteristics.</p