Natural History of MYH7-Related Dilated Cardiomyopathy

BACKGROUND: Variants in myosin heavy chain 7 (MYH7) are responsible for disease in 1% to 5% of patients with dilated cardiomyopathy (DCM); however, the clinical characteristics and natural history of MYH7-related DCM are poorly described. OBJECTIVE: We sought to determine the phenotype and prognosis of MYH7-related DCM. We also evaluated the influence of variant location on phenotypic expression. METHODS: We studied clinical data from 147 individuals with DCM-causing MYH7 variants (47.6% female; 35.6 ± 19.2 years) recruited from 29 international centers. RESULTS: At initial evaluation, 106 (72.1%) patients had DCM (left ventricular ejection fraction: 34.5% ± 11.7%). Median follow-up was 4.5 years (IQR: 1.7-8.0 years), and 23.7% of carriers who were initially phenotype-negative developed DCM. Phenotypic expression by 40 and 60 years was 46% and 88%, respectively, with 18 patients (16%) first diagnosed at <18 years of age. Thirty-six percent of patients with DCM met imaging criteria for LV noncompaction. During follow-up, 28% showed left ventricular reverse remodeling. Incidence of adverse cardiac events among patients with DCM at 5 years was 11.6%, with 5 (4.6%) deaths caused by end-stage heart failure (ESHF) and 5 patients (4.6%) requiring heart transplantation. The major ventricular arrhythmia rate was low (1.0% and 2.1% at 5 years in patients with DCM and in those with LVEF of ≤35%, respectively). ESHF and major ventricular arrhythmia were significantly lower compared with LMNA-related DCM and similar to DCM caused by TTN truncating variants. CONCLUSIONS: MYH7-related DCM is characterized by early age of onset, high phenotypic expression, low left ventricular reverse remodeling, and frequent progression to ESHF. Heart failure complications predominate over ventricular arrhythmias, which are rare

Effects of exposure to pharmaceuticals (diclofenac and carbamazepine) spiked sediments in the midge, Chironomus riparius (Diptera, Chironomidae)

Human and veterinary pharmaceuticals and degradation products are continuously introduced into the environment. To date, there is a lack of information about the effects of pharmaceuticals in spiked toxicity tests with non-target organisms. In this study, we have evaluated the effects of exposure to two common pharmaceuticals in the midge Chironomus riparius in spiked sediment experiments. The selected pharmaceuticals are the nonsteroidal anti-inflammatory drug (NSAID) diclofenac (DF) and the anti-depressant drug carbamazepine (CBZ). In order to assess the effects of the pharmaceuticals, a chronic toxicity test with the midge was carried out. The endpoints survival, growth and developmental stage by means of biomass, were measured after 10 days, and emergence rates and sex-ratio (male/female) were measured after 21 days of exposure. Significant mortality was observed in organisms at day 10 with a 40% of larvae surviving in the highest exposure concentration of CBZ. DF decreased the emergence ratio with respect to the controls in organisms exposed at concentrations of 34.0 μg·g− 1 whereas CBZ reduced the growth of the midges (30,6% with respect to the control) and induced a significant change in sex-ratio at concentrations of 31.4 μg·g− 1. The results obtained in the present study indicate possible adverse effects on aquatic invertebrates, which should be taken into account for environmental risk assessment of pharmaceutical compounds in sediments. © 2017 Elsevier B.V

Lectura y comprensión

Resumen basado en ficha elaborada por los autoresEl proyecto ha sido realizado por 16 profesores del CP Menéndez Pelayo en el mismo centro. Los objetivos planteados son dar a conocer a los alumnos un conjunto de técnicas cognitivas (formular preguntas, hipótesis, etc.) y meta cognitivas (ideas previas, valoración de textos, dificultades de comprensión, poner a disposición de los alumnos lecturas que aborden temas sugeridos por ellos, desarrollar estrategias de animación a la lectura y enriquecer el vocabulario a través de la confección de un diccionario individual y/o de aula. Para el desarrollo de la actividad, el tutor explicaba a los alumnos en que consistía la estrategia presentada y su puesta en práctica, posteriormente se aplicaba la misma técnica a las lecturas habituales y a los textos que la maestra estimaba de interés didáctico. Para la valoración del trabajo se han realizado dos encuestas (una a los profesores y otra a los alumnos) de las que se decanta que se mejora el aprendizaje de los alumnos, pero sobre todo el de los alumnos de atención a la diversidad. Se han empleado programas de estrategias cognitivas y meta cognitivas para comprender la lectura de A. Vallés Arandiga y C. Vallés Tortosa. El proyecto no ha sido publicado.Consejería de Educación y Juventud de CantabriaCantabriaES