Diagnostic yield of Hypertrophic Cardiomyopathy genetic test in Cantabria

ABSTRACT : BACKGROUND: Hypertrophic cardiomyopathy is the most frequent inheritable heart disease, affecting 1 in 500 people. The inheritance pattern is autosomal dominant, and it is caused by mutations in sarcomere protein genes, which induce ventricular hypertrophy that cannot be explained by loading conditions. Its way of manifestation is widely diverse, from asymptomatic patients to patients suffering from sudden cardiac death. The role of genetics is becoming increasingly important in studying the variants involved, their prognosis, and their role in family screening. OBJECTIVES: making a review about HCM and studying the yield of the genetic test in HCM population in Cantabria. MATERIALS AND METHODS: creation of a data base with clinical, imaging and genetic information of HCM proband cases in Cantabria who underwent a genetic test between January 2018 and January 2020, RESULTS: 140 patients were included (60.71% were men; mean age was 61.33 ±1.25 years). 33 (23.57%) patients had positive test, 19 (13.57%) had VUS test and 88 studies (62.86%) were negative. The most frequent pathogenic variants were MYBPC3 (42.42%) and MYH7 (39.39%). DISCUSSION AND CONCLUSION: the yield of genetic test was lower than the prevalence of pathogenic variants described in literature (23.57% versus about 60%). There were no data enough to assess definitive conclusions.RESUMEN : INTRODUCCIÓN: La miocardiopatía hipertrófica es la cardiopatía hereditaria más frecuente, afectando a 1 de cada 500 personas. Está producida por mutaciones en los genes sarcoméricos que se heredan de manera autosómica dominante, produciendo hipertrofia ventricular no explicable por otras causas, pudiendo no producir síntomas o incluso producir muerte súbita cardiaca. El estudio genético está cobrando cada vez más importancia a la hora de identificar las variantes, su pronóstico y su papel en el cribado familiar. OBJETIVOS: hacer una revisión de la literatura sobre MCH y estudiar la rentabilidad del restudio genético de la enfermedad en Cantabria. MATERIALES Y MÉTODOS: creación de una base de datos con las características clínicas, radiológicas y genéticas de los casos índice de Cantabria a los que se les realizó el estudio genético entre enero de 2018 y enero de 2020. RESULTADOS: se incluyeron 140 casos índice (60.71% eran hombres; la media de edad fue 61.33 ±1.25 años). 33 (23.57%) estudios fueron positivos, 19 (13.57%) tuvieron un resultado con significado incierto y 88 (62.86%) fueron negativos. DISCUSIÓN Y CONCLUSIONES: la rentabilidad del estudio genético encontrando variantes patogénicas fue menor que en la literatura (23.57% frente a 60%). No hubo datos suficientes para extraer conclusiones definitivas.Grado en Medicin

Space Station Freedom program. Commercial infrastructure and technology utilization

The following topics are presented in viewgraph form: (1) the participation of the 'commercial infrastructure' in the evolution of Space Station Freedom (SSF); and (2) the commercial utilization of SSF in terms of developed technologies. Additionally, a comparison between the development of Aviation and Space flight is presented in terms of events occurring on a timeline

Paper Session I-C - Commercial Infrastructure Participation in the Space Station Freedom Program

The evolution phases of Space Station Freedom offer the private sector the opportunity to provide commercial infrastructure to NASA and other users of the Space Station. This paper discusses the opportunities for infrastructure beyond the baseline Space Station and describes several approaches to initiating the provision of commercial infrastructure. These approaches include unsolicited proposals from the private sector, commercial development of infrastructure, and commercial operation of infrastructure

Cytogenetic effects of irradiation on somatic and germ cells

Aquest treball resumeix el resultats obtinguts en dos dels projectes de recerca desenvolupats en el nostre laboratori dins del marc dels programes de protecció radiològica del Consejo de Seguridad Nuclear i la Unió Europea. Aquestes dues línies de recerca estan fonamentalment interconnectades, en el sentit que l'anàlisi dels efectes citogenètics de les radiacions en cèl?lules somàtiques estudia en el mateix individu les conseqüències de l'exposició ocupacional o accidental a la radiació, especialment des del punt de vista del desenvolupament d'alguns tipus de neoplàsia, mentre que els estudis en cèl?lules germinals avaluen el risc de l'exposició per a futures generacions, a través de la transmissió d'anomalies cromosòmiques per via d'espermatozoides afectats. En ambdós casos, aquests estudis, que s'han dut a terme principalment en els darrers sis anys, a més d'aportar dades bàsiques per avaluar les conseqüències de l'exposició a radiacions i de definir les mesures a prendre per tal de prevenir la transmissió d'anomalies cromosòmiques a la descendència en casos d'exposició terapèutica, han estat també fonamentals per desenvolupar noves i més efectives tècniques per a l'avaluació de les conseqüències citogenètiques de l'exposició a les radiacions.This paper summarizes the results obtained in two of the research projects carried out in our laboratory within the radiation protection programs of the Consejo de Seguridad Nuclear and the European Union. These two research lines are fundamentally interconnected, since the analysis of the cytogenetic effects of radiation on somatic cells studies the consequences of occupational or accidental exposure to radiation for the individual, especially from the point of view of developing some type of malignancy, while the studies carried out in germ cells evaluate the risk of exposure for future generations, through the transmission of chromosome abnormalities via affected spermatozoa. In both cases these studies, which were mainly carried out during the last six years, in addition to providing basic data for the assessment of the consequences of radiation exposure and defining the steps to be taken to prevent the transmission of chromosome anomalies to the offspring in cases of therapeutic exposure, have also been fundamental in developing more effective techniques for the evaluation of the cytogenetic consequences of exposure to radiation