Reasociación e inventario de conjuntos de restos óseos humanos mezclados

In this paper, some unmingling methods were evaluated within two contexts of commingled skeletal human remains with opposite levels of preservation. Also, the zonation and landmarks inventory methods were used in order to calculate the MNI along with other proposed equations. Afterwards, different indices, including a new one proposed in here, were applied in order to express the level of conservation of both archaeological contexts. After reviwing the extant research on commingled remains, the variety of methods used to unmingle them and the archaeological background of the two contexts worked in here, the results of the Ossuary of San Ignacio Temple and the Conjunto 07 of Bloque A10 of the Cementerio Central bone colection of Bogotá, Colombia, are introduced. These two particular contexts went from presenting a MNI of 34 and 106 to 37 and 110 respectively. At the end of the text, an evaluation of the used methods is made along with their advantages and limitations, and, as the final appendix, a proposal for a methodological guide to the unmingling of commingled remains is provided.En este trabajo se evaluaron métodos de reasociación en dos contextos de restos óseos humanos mezclados con niveles de preservación opuestos. Además, se utilizaron los sistemas de inventario de zonificación y de puntos de referencia para calcular el NMI junto con otras ecuaciones propuestas. Posteriormente, se aplicaron distintos índices y se propuso uno nuevo para expresar el nivel de conservación de los dos contextos arqueológicos. Tras una revisión de las investigaciones existentes en restos mezclados, de la gran variedad de métodos para reasociarlos y de los antecedentes arqueológicos de los dos contextos revisados, se presentan los resultados del Osario del Templo de San Ignacio y del Conjunto 07 del Bloque A10 de la colección del Cementerio Central de Bogotá, Colombia. Estos dos contextos pasaron de tener un NMI de 34 y 106 a uno de 37 y 110 respectivamente. Al final del texto se realiza una evaluación de los métodos utilizados, sus ventajas, sus limites y, como anexo final, se aporta una propuesta de guía metodológica para la reasociación de restos mezclados.Línea de Investigación: Línea de arqueología y bioantropologíaMaestrí

eHealth tools for assessing psychomotor activity in schizophrenia: A systematic review

Objective: Psychomotor abnormalities are relevant symptoms in the clinical presentation of schizophrenia, and assessing them could facilitate monitoring. New technologies can measure psychomotor activity objectively and continuously, but evidence on the topic is scarce. Our aim is to systematically review the existing evidence about eHealth tools for assessing psychomotor activity in patients diagnosed with schizophrenia. Method: We performed a systematic search of the PubMed and Embase databases and identified 15 relevant articles on eHealth tools for assessing psychomotor activity in schizophrenia. Results: eHealth devices accurately assessed psychomotor activity and were well accepted. Abnormalities in psychomotor activity helped differentiate between different subtypes of schizophrenia. Abnormal increases in psychomotor activity were correlated with acute presentations, while lower activity was associated with relapses, deterioration, and negative symptoms. Conclusion: Actigraphy is still the preferred eHealth device in research settings, but mobile applications have great potential. Further studies are needed to explore the possibilities of psychomotor monitoring and mobile health applications for preventing relapses in schizophrenia. eHealth could be useful for monitoring psychomotor activity, which might help prevent relapses.This study received grant support from the Instituto de Salud Carlos III (Grant/Award Number: ISCIII CM19/ 00026)

A New Set of in Silico Tools to Support the Interpretation of ATM Missense Variants Using Graphical Analysis

Establishing the pathogenic nature of variants in ATM, a gene associated with breast cancer and other hereditary cancers, is crucial for providing patients with adequate care. Unfortunately, achieving good variant classification is still difficult. To address this challenge, we extended the range of in silico tools with a series of graphical tools devised for the analysis of computational evidence by health care professionals. We propose a family of fast and easy-to-use graphical representations in which the impact of a variant is considered relative to other pathogenic and benign variants. To illustrate their value, the representations are applied to three problems in variant interpretation. The assessment of computational pathogenicity predictions showed that the graphics provide an intuitive view of pre-diction reliability, complementing and extending conventional numerical reliability indexes. When applied to variant of unknown significance populations, the representations shed light on the nature of these variants and can be used to prioritize variants of unknown significance for further studies. In a third application, the graphics were used to compare the two versions of the ATM-adapted American College of Medical Genetics and Genomics and Association for Molecular Pathology guidelines, obtaining valuable information on their relative virtues and weaknesses. Finally, a server [ATMision (ATM missense in silico interpretation online)] was generated for users to apply these representations in their variant interpretation problems, to check the ATM-adapted guidelines' criteria for computational evidence on their variant(s) and access different sources of information. (J Mol Diagn 2024, 26: 17-28; https://doi.org/10.1016/j.jmoldx.2023.09.009

A Collaborative Effort to Define Classification Criteria for ATM Variants in Hereditary Cancer Patients

Background Gene panel testing by massive parallel sequencing has increased the diagnostic yield but also the number of variants of uncertain significance. Clinical interpretation of genomic data requires expertise for each gene and disease. Heterozygous ATM pathogenic variants increase the risk of cancer, particularly breast cancer. For this reason, ATM is included in most hereditary cancer panels. It is a large gene, showing a high number of variants, most of them of uncertain significance. Hence, we initiated a collaborative effort to improve and standardize variant classification for the ATM gene. Methods Six independent laboratories collected information from 766 ATM variant carriers harboring 283 different variants. Data were submitted in a consensus template form, variant nomenclature and clinical information were curated, and monthly team conferences were established to review and adapt American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) criteria to ATM, which were used to classify 50 representative variants. Results Amid 283 different variants, 99 appeared more than once, 35 had differences in classification among laboratories. Refinement of ACMG/AMP criteria to ATM involved specification for twenty-one criteria and adjustment of strength for fourteen others. Afterwards, 50 variants carried by 254 index cases were classified with the established framework resulting in a consensus classification for all of them and a reduction in the number of variants of uncertain significance from 58% to 42%. Conclusions Our results highlight the relevance of data sharing and data curation by multidisciplinary experts to achieve improved variant classification that will eventually improve clinical management.FEDER funds-a way to build Europe PI19/00553 PI16/00563 PI16/01898 SAF2015-68016-RGeneralitat de Catalunya 2017SGR1282 2017SGR496CERCA Program: Government of CataloniaXunta de GaliciaInstituto de Salud Carlos III. AES PI19/00340Spanish Government SAF2016-80255-REuropean Commission EFA086/15Instituto de Salud Carlos III European Commissio

The Synoptic All-Sky Infrared (SASIR) Survey

We are proposing to conduct a multicolor, synoptic infrared (IR) imaging survey of the Northern sky with a new, dedicated 6.5-meter telescope at San Pedro M\'artir (SPM) Observatory. This initiative is being developed in partnership with astronomy institutions in Mexico and the University of California. The 4-year, dedicated survey, planned to begin in 2017, will reach more than 100 times deeper than 2MASS. The Synoptic All-Sky Infrared (SASIR) Survey will reveal the missing sample of faint red dwarf stars in the local solar neighborhood, and the unprecedented sensitivity over such a wide field will result in the discovery of thousands of z ~ 7 quasars (and reaching to z > 10), allowing detailed study (in concert with JWST and Giant Segmented Mirror Telescopes) of the timing and the origin(s) of reionization. As a time-domain survey, SASIR will reveal the dynamic infrared universe, opening new phase space for discovery. Synoptic observations of over 10^6 supernovae and variable stars will provide better distance measures than optical studies alone. SASIR also provides significant synergy with other major Astro2010 facilities, improving the overall scientific return of community investments. Compared to optical-only measurements, IR colors vastly improve photometric redshifts to z ~ 4, enhancing dark energy and dark matter surveys based on weak lensing and baryon oscillations. The wide field and ToO capabilities will enable a connection of the gravitational wave and neutrino universe - with events otherwise poorly localized on the sky - to transient electromagnetic phenomena.Comment: Revised version of submitted whitepaper to the "Optical and IR Astronomy from the Ground" Program Prioritization Panel of the Astro2010 Decadal Survey; 23 page

Comparison of seven prognostic tools to identify low-risk pulmonary embolism in patients aged <50 years

publishersversionPeer reviewe

Clonal chromosomal mosaicism and loss of chromosome Y in elderly men increase vulnerability for SARS-CoV-2

The pandemic caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2, COVID-19) had an estimated overall case fatality ratio of 1.38% (pre-vaccination), being 53% higher in males and increasing exponentially with age. Among 9578 individuals diagnosed with COVID-19 in the SCOURGE study, we found 133 cases (1.42%) with detectable clonal mosaicism for chromosome alterations (mCA) and 226 males (5.08%) with acquired loss of chromosome Y (LOY). Individuals with clonal mosaic events (mCA and/or LOY) showed a 54% increase in the risk of COVID-19 lethality. LOY is associated with transcriptomic biomarkers of immune dysfunction, pro-coagulation activity and cardiovascular risk. Interferon-induced genes involved in the initial immune response to SARS-CoV-2 are also down-regulated in LOY. Thus, mCA and LOY underlie at least part of the sex-biased severity and mortality of COVID-19 in aging patients. Given its potential therapeutic and prognostic relevance, evaluation of clonal mosaicism should be implemented as biomarker of COVID-19 severity in elderly people. Among 9578 individuals diagnosed with COVID-19 in the SCOURGE study, individuals with clonal mosaic events (clonal mosaicism for chromosome alterations and/or loss of chromosome Y) showed an increased risk of COVID-19 lethality

Post-intervention Status in Patients With Refractory Myasthenia Gravis Treated With Eculizumab During REGAIN and Its Open-Label Extension

OBJECTIVE: To evaluate whether eculizumab helps patients with anti-acetylcholine receptor-positive (AChR+) refractory generalized myasthenia gravis (gMG) achieve the Myasthenia Gravis Foundation of America (MGFA) post-intervention status of minimal manifestations (MM), we assessed patients' status throughout REGAIN (Safety and Efficacy of Eculizumab in AChR+ Refractory Generalized Myasthenia Gravis) and its open-label extension. METHODS: Patients who completed the REGAIN randomized controlled trial and continued into the open-label extension were included in this tertiary endpoint analysis. Patients were assessed for the MGFA post-intervention status of improved, unchanged, worse, MM, and pharmacologic remission at defined time points during REGAIN and through week 130 of the open-label study. RESULTS: A total of 117 patients completed REGAIN and continued into the open-label study (eculizumab/eculizumab: 56; placebo/eculizumab: 61). At week 26 of REGAIN, more eculizumab-treated patients than placebo-treated patients achieved a status of improved (60.7% vs 41.7%) or MM (25.0% vs 13.3%; common OR: 2.3; 95% CI: 1.1-4.5). After 130 weeks of eculizumab treatment, 88.0% of patients achieved improved status and 57.3% of patients achieved MM status. The safety profile of eculizumab was consistent with its known profile and no new safety signals were detected. CONCLUSION: Eculizumab led to rapid and sustained achievement of MM in patients with AChR+ refractory gMG. These findings support the use of eculizumab in this previously difficult-to-treat patient population. CLINICALTRIALSGOV IDENTIFIER: REGAIN, NCT01997229; REGAIN open-label extension, NCT02301624. CLASSIFICATION OF EVIDENCE: This study provides Class II evidence that, after 26 weeks of eculizumab treatment, 25.0% of adults with AChR+ refractory gMG achieved MM, compared with 13.3% who received placebo

Minimal Symptom Expression' in Patients With Acetylcholine Receptor Antibody-Positive Refractory Generalized Myasthenia Gravis Treated With Eculizumab

The efficacy and tolerability of eculizumab were assessed in REGAIN, a 26-week, phase 3, randomized, double-blind, placebo-controlled study in anti-acetylcholine receptor antibody-positive (AChR+) refractory generalized myasthenia gravis (gMG), and its open-label extension

Rising rural body-mass index is the main driver of the global obesity epidemic in adults

Body-mass index (BMI) has increased steadily in most countries in parallel with a rise in the proportion of the population who live in cities(.)(1,2) This has led to a widely reported view that urbanization is one of the most important drivers of the global rise in obesity(3-6). Here we use 2,009 population-based studies, with measurements of height and weight in more than 112 million adults, to report national, regional and global trends in mean BMI segregated by place of residence (a rural or urban area) from 1985 to 2017. We show that, contrary to the dominant paradigm, more than 55% of the global rise in mean BMI from 1985 to 2017-and more than 80% in some low- and middle-income regions-was due to increases in BMI in rural areas. This large contribution stems from the fact that, with the exception of women in sub-Saharan Africa, BMI is increasing at the same rate or faster in rural areas than in cities in low- and middle-income regions. These trends have in turn resulted in a closing-and in some countries reversal-of the gap in BMI between urban and rural areas in low- and middle-income countries, especially for women. In high-income and industrialized countries, we noted a persistently higher rural BMI, especially for women. There is an urgent need for an integrated approach to rural nutrition that enhances financial and physical access to healthy foods, to avoid replacing the rural undernutrition disadvantage in poor countries with a more general malnutrition disadvantage that entails excessive consumption of low-quality calories.Peer reviewe