A matter of life and death: the Middle Neolithic population from Bom Santo Cave (Lisbon, Portugal)

The study of the Bom Santo Cave (central Portugal), a Neolithic cemetery, indicated a complex social, palaeoeconomic and population scenario. With isotope, aDNA and provenience analyses of raw materials coupled with stylistic variability of material culture items and palaeogeographical data light is shed on the territory and social organization of a population dated to 3800–3400 cal BC, i.e. the middle phase of the period. Results indicate an itinerant farming, segmentary society, where exogamic practices were the norm and patrilocality probably predominated. Its lifeway may be that of the earliest megalithic builders of the region, but further research is needed to correctly evaluate the degree of participation in such phenomenon

Crustal structure of the Spanish Central System: Constraints from ambient noise autocorrelation and controlled source data

This presentation provides an image of the crustal structure underneath the Central System, in the Central Iberian Zone, by means of seismic noise autocorrelation and wide angle seismic dat

Stratigraphic and structural interpretation of the San Pedro Basin (south-eastern Dominican Republic offshore margin)

La cuenca de San Pedro (CSP) se define como una depresión batimétrica con tendencia E-O y una extensión aproximada de 6000 km2, situada en el margen sureste de la isla de La Española (República Dominicana y Haití). Estructuralmente se ubica en la parte trasera del Cinturón Deformado de los Muertos (CDM). Considerada tradicionalmente como una cuenca de edad Mioceno medio, cuyo relleno ha sido depositado en el espacio de configuración generado por la progresiva deformación del CDM. Sin embargo, gracias a la integración de los trabajos de cartografía geológica (Proyectos SYSMIN I y II) con datos de geofísica de subsuelo (sísmica de reflexión, registros de pozo y campos potenciales), ha sido posible proponer un nuevo modelo evolutivo de la cuenca que abarca desde el inicio de la sedimentación en un contexto de retro-arco desde el Cretácico Superior hasta la inversión de la cuenca en el Eoceno medio y la posterior evolución del conjunto CSP-CDM hasta la actualidad, pudiendo correlacionar las principales secuencias estratigráficas y estructuras con los datos de afloramiento y pozo.The San Pedro Basin (SPB) consists of an E-W bathymetric depression with an extension of 6000 km2, located in the south-eastern margin of Hispaniola Island (Dominican Republic and Haiti). Structurally, the SPB is situated at the rear zone of the Muertos Thrust Belt (MTB). The basin has been dated as middle Miocene in the bibliography, with the infill deposited in the configuration space generated by the progressive deformation of the MTB. Nevertheless, the integration of the new systematic geological mapping (SYSMIN I&II Programs) with geophysical data (reflection seismic, well logs and potential fields) led us to propose a new evolution model of the basin from the start of sedimentation in Upper Cretaceous in a retro-arc context to the inversion of the basin in middle Eocene and the later evolution of the SPB-MTB system until present, establishing the correlation between main sequences with outcrops and well data.Depto. de Geodinámica, Estratigrafía y PaleontologíaDepto. de Mineralogía y PetrologíaFac. de Ciencias GeológicasTRUEpu

GWAS for Systemic Sclerosis Identifies Multiple Risk Loci and Highlights Fibrotic and Vasculopathy Pathways

Systemic sclerosis (SSc) is an autoimmune disease that shows one of the highest mortality rates among rheumatic diseases. We perform a large genome-wide association study (GWAS), and meta-analysis with previous GWASs, in 26,679 individuals and identify 27 independent genome-wide associated signals, including 13 new risk loci. The novel associations nearly double the number of genome-wide hits reported for SSc thus far. We define 95% credible sets of less than 5 likely causal variants in 12 loci. Additionally, we identify specific SSc subtype-associated signals. Functional analysis of high-priority variants shows the potential function of SSc signals, with the identification of 43 robust target genes through HiChIP. Our results point towards molecular pathways potentially involved in vasculopathy and fibrosis, two main hallmarks in SSc, and highlight the spectrum of critical cell types for the disease. This work supports a better understanding of the genetic basis of SSc and provides directions for future functional experiments.Funding: This work was supported by Spanish Ministry of Economy and Competitiveness (grant ref. SAF2015-66761-P), Consejeria de Innovacion, Ciencia y Tecnologia, Junta de Andalucía (P12-BIO-1395), Ministerio de Educación, Cultura y Deporte through the program FPU, Juan de la Cierva fellowship (FJCI-2015-24028), Red de Investigación en Inflamación y Enfermadades Reumaticas (RIER) from Instituto de Salud Carlos III (RD16/0012/0013), and Scleroderma Research Foundation and NIH P50-HG007735 (to H.Y.C.). H.Y.C. is an Investigator of the Howard Hughes Medical Institute. PopGen 2.0 is supported by a grant from the German Ministry for Education and Research (01EY1103). M.D.M and S.A. are supported by grant DoD W81XWH-18-1-0423 and DoD W81XWH-16-1-0296, respectively

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

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

Nuevos registros de ofiuroideos (Echinodermata: Ophiuroidea) para localidades de Zihuatanejo (Guerrero) y Puerto Escondido (Oaxaca), Pacífico mexicano New records of ophiuroids (Echinodermata: Ophiuroidea) from localities at Zihuatanejo (Guerrero) and Puerto Escondido (Oaxaca), Mexican Pacific

Se presentan nuevos registros de ofiuroideos para localidades de Zihuatanejo, Guerrero y de Puerto Escondido, Oaxaca en el Pacífico mexicano. Mediante recolectas realizadas en diversos sustratos se obtuvieron 12 especies, de las cuales Ophiocoma alexandri Lyman, 1860 y Ophiothela mirabilis (Verrill, 1867) fueron las más ampliamente distribuidas. Este número de especies, el más alto registrado respecto a trabajos previos, se atribuye a la mayor amplitud espacial del esfuerzo de muestreo y a la mayor diversidad de sustratos explorados. Se dan a conocer nuevos sustratos habitados por O. mirabilis y Ophioderma panamensis Lütken, 1859. Se presenta el primer registro de asociación de un organismo juvenil de O. alexandri con un hidrozoo del orden Leptothecata en el Pacífico oriental. A pesar del incremento en el número de especies reconocidas para las localidades, se sugiere llevar a cabo una prospección más amplia del Pacífico tropical mexicano y un mayor esfuerzo de muestreo en diversos sustratos con el fin de incrementar el conocimiento de la biodiversidad de ofiuros en la zona.<br>New records of ophiuroids from localities at Zihuatanejo, Guerrero and Puerto Escondido, Oaxaca in the Mexican Pacific are presented. Based on specimens collected on diverse substrata, 12 species were identified; Ophiocoma alexandri Lyman, 1860 and Ophiothela mirabilis (Verrill, 1867) being the most widely distributed. The larger number of recorded species compared to previous studies may result from a spatially broader sampling and a more thorough survey involving a larger variety of substrata. New substrata for O. mirabilis and Ophioderma panamensis Lütken, 1859 are reported. We document, for first time, the relationship between a juvenile of O. alexandri and a hydrozoan of the order Leptothecata in the Eastern Pacific. Although this paper documents a significant increase in the number of recorded species in the study area, we highlight the need for a large scale survey in the tropical Mexican Pacific, along with a more thorough sampling on a larger number of substrata in order to increase our knowledge about ophiuroids in the area

Sedimentación en comunidades arrecifales de Bahías de Huatulco, Oaxaca, México

Aún cuando la sedimentación en arrecifes es importante pues sus efectos alteran procesos como la simbiosis, reproducción, reclutamiento y crecimiento, se carece de estudios en el Pacífico mexicano. Debido a lo anterior, se evaluó la tasa de sedimentación y su variación espacio-temporal en seis comunidades coralinas de Oaxaca. Durante febrero 2006-enero 2007 (exceptuando abril, julio y agosto), instalamos al azar dos estructuras con cuatro recolectores de sedimento cada una. Los recolectores fueron reemplazados aproximadamente cada 38 días y los sedimentos fueron enjuagados, filtrados, secados y pesados. La tasa de sedimentación fue heterogénea entre localidades (F5,36 = 7.06, P 0.5); no obstante, durante la temporada de secas (noviembre-marzo) la tasa de sedimentación en la zona osciló entre 6.8-73.5 mg cm-2 día-1, mientras que durante lluvias (mayo-octubre) osciló entre 74.5-147.6 mg cm-2 día-1, es decir, durante la temporada de lluvias la tasa de sedimentación fue 141-1088 % mayor que durante secas (Mann-Whitney U = 137, n = 42, P = 0.03). La relación entre la cantidad de sedimento y la precipitación pluvial fue significativa (Spearman R = 0.83, n = 8, P = 0.009), sugiriendo que el aporte de sedimento está relacionado con la escorrentía regional. La tasa de sedimentación registrada en Isla Montosa (366.64 mg cm-2 día-1) e Isla Cacaluta (366.03 mg cm-2 día-1) durante la temporada de lluvias, puede ser considerada como letal-subletal en función de la tolerancia y de la capacidad de rechazo de sedimento por parte de los corales; no obstante, la ausencia de mortalidad coralina, en respuesta a los niveles de sedimentación registrados durante la época de lluvias, y el desarrollo coralino observado en la región pudiera estar relacionado al efecto combinado de: a) la eficiencia de la remoción activa de sedimento, b) el posible incremento en la tolerancia fisiológica al sedimento por parte de los corales pétreos de Bahías de Huatulco, y c) la remoción pasiva de sedimentos vía la turbulencia de la zona. No obstante, el efecto combinado de la sedimentación natural aunado a la sedimentación resultado de actividades antropogénicas en la región, podría promover un cambio en la estructura arrecifal provocando la eventual pérdida de las comunidades coralinas en Bahías de Huatulco