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. OBJECTIVES 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. (C) 2022 The Authors. Published by Elsevier on behalf of the American College of Cardiology Foundation

Present and future potential distribution of cold-water corals in the Weddell Sea (N Antarctica) modelled with Biomod2

Interests in exploring Cold Water Corals (CWC) ecosystems witnessed a dramatic increase in the last decades, after the realisation that their habitats are threatened by ocean warming and acidification. However, they are still largely overlooked by the scientific community in deep and harsh environments like the Southern Ocean. Recent advances in species distribution models (SDM) have allowed forecasting species distribution patterns and assessing climate change impacts at different spatial scales. Several limitations related to the accuracy of species presences, the lack of reliable absence data and the limited spatial resolution of environmental factors, have restricted the widespread utilisation of these approaches in polar areas. In this work, real presence-absence records of 13 species were gathered from research expeditions and literature and combined with model-generated pseudo-absences, to cover the study area. Moreover, a final set of 14 high-resolution environmental variables was pre-selected and nine species distribution modelling algorithms were merged with means of the ensemble forecasting platform 'biomod2' to model the habitat suitability for azooxanthallate scleractinian corals, in the Weddell Sea. 'Biomod2' is implemented in 'R' and is a freeware, open source package. Response of scleractinian distribution to the future climate change was also investigated, based on two future scenarios of the bottom sea temperature. Present ensemble prediction maps accurately captured the potential ecological niches of the modelled species (good to excellent true skill statistic (TSS) and area under the receiver operating characteristic curve (AUC) evaluation measures). In the Weddell Sea, scleractinian distribution is limited to the continental shelf and slope areas with preference to small scale features (i.e., seamounts), which have been identified as having a high probability of supporting cold-water coral habitat. The most important factors in determining CWC habitat suitability were distance to coast and ice shelves, bathymetry, calcium carbonate and temperature. The response of scleractinian to future climate revealed some changes in small-scale spatial distribution patterns. Under warmer conditions, the CWC will probably expand their distribution range by a total of 6 to 10%, by 2037 and 2150 respectively, compared to the present. This expansion would concern the Filchner Trough and the adjacent continental shelves as well as the eastern side of the Antarctic Peninsula

(Tables 1, 3) Details of Agassiz trawl stations and numbers of specimens per macro- and megazoobenthic taxon collected during POLARSTERN cruise ANT-XXII/3 (ANDEEP III)

The assemblages inhabiting the continental shelf around Antarctica are known to be very patchy, in large part due to deep iceberg impacts. The present study shows that richness and abundance of much deeper benthos, at slope and abyssal depths, also vary greatly in the Southern and South Atlantic oceans. On the ANDEEP III expedition, we deployed 16 Agassiz trawls to sample the zoobenthos at depths from 1055 to 4930 m across the northern Weddell Sea and two South Atlantic basins. A total of 5933 specimens, belonging to 44 higher taxonomic groups, were collected. Overall the most frequent taxa were Ophiuroidea, Bivalvia, Polychaeta and Asteroidea, and the most abundant taxa were Malacostraca, Polychaeta and Bivalvia. Species richness per station varied from 6 to 148. The taxonomic composition of assemblages, based on relative taxon richness, varied considerably between sites but showed no relation to depth. The former three most abundant taxa accounted for 10-30% each of all taxa present. Standardised abundances based on trawl catches varied between 1 and 252 individuals per 1000 m2. Abundance significantly decreased with increasing depth, and assemblages showed high patchiness in their distribution. Cluster analysis based on relative abundance showed changes of community structure that were not linked to depth, area, sediment grain size or temperature. Generally abundances of zoobenthos in the abyssal Weddell Sea are lower than shelf abundances by several orders of magnitude

Por la cultura de la vida y los niños por nacer

Resumen: El 30 de diciembre de 2020 el Congreso de la Nación sancionó la Ley Nº 27.610, denominada eufemísticamente de “interrupción voluntaria del embarazo”, en donde se estable la regulación de un supuesto “derecho al aborto” e impone como “de orden público” la práctica del mismo a todas las provincias y la Ciudad Autónoma de Buenos Aires. Desde el primer momento esta ley inicua e injusta ha sido motivo de numerosos planteos judiciales que se encuentran en trámite ante tribunales en distintas provincias, así como pedidos de derogación inmediata. Los decanos abajo firmantes, en este nuevo recordatorio del “Día del Niño por Nacer” –que vivimos con gran dolor frente a este manifiesto agravio a la cultura de la vida–, queremos expresar nuestro total apoyo a tales iniciativas. Desde mucho antes de la sanción de esta norma, pero especialmente el 20 de noviembre de 2020, hemos señalado que el proyecto de ley –ahora sancionado– no superaba el mínimo test de constitucionalidad, convencionalidad y congruencia legislativa dentro del Derecho Común

Composition of benthic taxa collected during POLARSTERN cruise ANT-XXI/5 (BENDEX) at Bouvet Island and Spiess Seamound

Bouvet (Bouvetøya) is a geologically young and very remote island just south of the Polar Front. Here we report samples taken during the RV "Polarstern" cruise ANTXXI/2 on 3 days in November 2003 and January 2004. This work was part of SCAR's EASIZ programme and intended, by providing data on the marine fauna of this "white gap" in the Atlantic sector of the Southern Ocean, to contribute to identifying the role of Bouvet in the faunal exchange between the Sub- and high Antarctic. While this goal demands extensive molecular analysis of the material sampled (future work), a checklist of the samples and data at hand widens the faunal and environmental inventory substantially. We suggest some preliminary conclusions on the relationship of Bouvet Island's fauna with that of other regions, such as Magellanic South America, the Antarctic Peninsula, and the high Antarctic Weddell Sea, which have been sampled previously. There seem to be different connections for individual higher taxa rather than a generally valid consistent picture