Rapid detection of cardiac pathologies by neural networks using ECG signals (1D) and sECG images (3D)

Usually, cardiac pathologies are detected using one-dimensional electrocardiogram signals or two-dimensional images. When working with electrocardiogram signals, they can be represented in the time and frequency domains (one-dimensional signals). However, this technique can present difficulties, such as the high cost of private health services or the time the public health system takes to refer the patient to a cardiologist. In addition, the variety of cardiac pathologies (more than 20 types) is a problem in diagnosing the disease. On the other hand, surface electrocardiography (sECG) is a little-explored technique for this diagnosis. sECGs are three-dimensional images (two dimensions in space and one in time). In this way, the signals were taken in one-dimensional format and analyzed using neural networks. Following the transformation of the one-dimensional signals to three-dimensional signals, they were analyzed in the same sense. For this research, two models based on LSTM and ResNet34 neural networks were developed, which showed high accuracy, 98.71% and 93.64%, respectively. This study aims to propose the basis for developing Decision Support Software (DSS) based on machine learning models. © 2022 by the authors. Licensee MDPI, Basel, Switzerland

In vivo assessment of optical properties of melanocytic skin lesions and differentiation of melanoma from non-malignant lesions by high-definition optical coherence tomography

One of the most challenging problems in clinical dermatology is the early detection of melanoma. Reflectance confocal microscopy (RCM) is an added tool to dermoscopy improving considerably diagnostic accuracy. However, diagnosis strongly depends on the experience of physicians. High-definition optical coherence tomography (HD-OCT) appears to offer additional structural and cellular information on melanocytic lesions complementary to that of RCM. However, the diagnostic potential of HD-OCT seems to be not high enough for ruling out the diagnosis of melanoma if based on morphology analysis. The aim of this paper is first to quantify in vivo optical properties such as light attenuation in melanocytic lesions by HD-OCT. The second objective is to determine the best critical value of these optical properties for melanoma diagnosis. The technique of semi-log plot whereby an exponential function becomes a straight line has been implemented on HD-OCT signals coming from four successive skin layers (epidermis, upper papillary dermis, deeper papillary dermis and superficial reticular dermis). This permitted the HD-OCT in vivo measurement of skin entrance signal (SES), relative attenuation factor normalized for the skin entrance signal (µraf1) and half value layer (z1/2). The diagnostic accuracy of HD-OCT for melanoma detection based on the optical properties, µraf1, SES and z1/2 was high (95.6, 82.2 and 88.9 %, respectively). High negative predictive values could be found for these optical properties (96.7, 89.3 and 96.3 %, respectively) compared to morphologic assessment alone (89.9 %), reducing the risk of mistreating a malignant lesion to a more acceptable level (3.3 % instead of 11.1 %). HD-OCT seems to enable the combination of in vivo morphological analysis of cellular and 3-D micro-architectural structures with in vivo analysis of optical properties of tissue scatterers in melanocytic lesions. In vivo HD-OCT analysis of optical properties permits melanoma diagnosis with higher accuracy than in vivo HD-OCT analysis of morphology alone.SCOPUS: ar.jinfo:eu-repo/semantics/publishe

The effects of spatial resolution on Integral Field Spectrograph surveys at different redshifts. The CALIFA perspective

Over the past decade, 3D optical spectroscopy has become the preferred tool for understanding the properties of galaxies and is now increasingly used to carry out galaxy surveys. Low redshift surveys include SAURON, DiskMass, ATLAS3D, PINGS and VENGA. At redshifts above 0.7, surveys such as MASSIV, SINS, GLACE, and IMAGES have targeted the most luminous galaxies to study mainly their kinematic properties. The on-going CALIFA survey ($z\sim0.02$) is the first of a series of upcoming Integral Field Spectroscopy (IFS) surveys with large samples representative of the entire population of galaxies. Others include SAMI and MaNGA at lower redshift and the upcoming KMOS surveys at higher redshift. Given the importance of spatial scales in IFS surveys, the study of the effects of spatial resolution on the recovered parameters becomes important. We explore the capability of the CALIFA survey and a hypothetical higher redshift survey to reproduce the properties of a sample of objects observed with better spatial resolution at lower redshift. Using a sample of PINGS galaxies, we simulate observations at different redshifts. We then study the behaviour of different parameters as the spatial resolution degrades with increasing redshift.Comment: 20 pages, 16 figures. Accepted for publication in A&

A genome-wide association analysis for body, udder, and leg conformation traits recorded in Murciano-Granadina goats

Morphological traits are of great importance to dairy goat production given their effect on phenotypes of economic interest. However, their underlying genomic architecture has not yet been extensively characterized. Herein, we aimed to identify genomic regions associated with body, udder, and leg conformation traits recorded in 825 Murciano-Granadina goats. We genotyped this resource population using the GoatSNP50 BeadChip (Illumina Inc., San Diego, CA) and performed genome-wide association analyses using the GEMMA software. We found 2 genome-wide significant associations between markers rs268273468 [Capra hircus (CHI) 16:69617700] and rs268249346 (CHI 28:18321523) and medial suspensory ligament. In contrast, we did not detect any genome-wide significant associations for body and leg traits. Moreover, we found 12, 19, and 7 chromosome-wide significant associations for udder, body, and leg traits, respectively. Comparison of our data with previous studies revealed a low level of positional concordance between regions associated with morphological traits. In addition to technical factors, this lack of concordance could be due to a substantial level of genetic heterogeneity among breeds or to the strong polygenic background of morphological traits, which makes it difficult to detect genetic factors that have small phenotypic effects

The evolution of the equivalent width of the Hα emission line and specific star formation rate in star-forming galaxies at 1 < z < 5

We present the results of a study which uses spectral energy distribution (SED) fitting to investigate the evolution of the equivalent width (EW) of the Halpha emission line in star-forming galaxies over the redshift interval 1<z<5. After first demonstrating the ability of our SED-fitting technique to recover EW(Ha) using a sample of galaxies at z~1.3 with EW(Ha) measurements from 3D-HST grism spectroscopy, we proceed to apply our technique to samples of spectroscopically confirmed and photometric-redshift selected star-forming galaxies at z>=1 in the CANDELS UDS and GOODS-S fields. Confining our analysis to a constant stellar mass range (9.5<log(M/Msun)<10.5), we find that the median EW(Ha) evolves only modestly with redshift, reaching a rest-frame value of EW(Ha)=301+/-30 Angs by redshift z~4.5. Furthermore, using estimates of star-formation rate (SFR) based on both UV luminosity and Ha line flux, we use our galaxy samples to compare the evolution of EW(Ha) and specific star-formation rate (sSFR). Our results indicate that over the redshift range 1<z<5, the evolution displayed by EW(Ha) and sSFR is consistent, and can be adequately parameterized as: propto (1+z)^(1.0+/-0.2). As a consequence, over this redshift range we find that the sSFR and rest-frame EW(Ha) of star-forming galaxies with stellar masses M~10^(10) Msun are related by: EW(Ha)/Ang=(63+/-7)sSFR/Gyr^(-1). Given the current uncertainties in measuring the SFRs of high-redshift galaxies, we conclude that EW(Ha) provides a useful independent tracer of sSFR for star-forming galaxies out to redshifts of z=5.Comment: Version accepted to publication in MNRAS, 11 pages, 5 figures, 1 tabl

CALIFA, the Calar Alto Legacy Integral Field Area survey: I. Survey presentation

We present here the Calar Alto Legacy Integral Field Area (CALIFA) survey, which has been designed to provide a first step in this direction.We summarize the survey goals and design, including sample selection and observational strategy.We also showcase the data taken during the first observing runs (June/July 2010) and outline the reduction pipeline, quality control schemes and general characteristics of the reduced data. This survey is obtaining spatially resolved spectroscopic information of a diameter selected sample of $\sim600$ galaxies in the Local Universe (0.005< z <0.03). CALIFA has been designed to allow the building of two-dimensional maps of the following quantities: (a) stellar populations: ages and metallicities; (b) ionized gas: distribution, excitation mechanism and chemical abundances; and (c) kinematic properties: both from stellar and ionized gas components. CALIFA uses the PPAK Integral Field Unit (IFU), with a hexagonal field-of-view of \sim1.3\sq\arcmin', with a 100% covering factor by adopting a three-pointing dithering scheme. The optical wavelength range is covered from 3700 to 7000 {\AA}, using two overlapping setups (V500 and V1200), with different resolutions: R\sim850 and R\sim1650, respectively. CALIFA is a legacy survey, intended for the community. The reduced data will be released, once the quality has been guaranteed. The analyzed data fulfill the expectations of the original observing proposal, on the basis of a set of quality checks and exploratory analysis. We conclude from this first look at the data that CALIFA will be an important resource for archaeological studies of galaxies in the Local Universe.Comment: 32 pages, 29 figures, Accepted for publishing in Astronomy and Astrophysic

Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies

Background: Myofibrillar myopathies (MFM) are a group of phenotypically and genetically heterogeneous neuromuscular disorders, which are characterized by protein aggregations in muscle fibres and can be associated with multisystemic involvement. Methods: We screened a large cohort of 38 index patients with MFM for mutations in the nine thus far known causative genes using Sanger and next generation sequencing (NGS). We studied the clinical and histopathological characteristics in 38 index patients and five additional relatives (n = 43) and particularly focused on the associated multisystemic symptoms. Results: We identified 14 heterozygous mutations (diagnostic yield of 37%), among them the novel p.Pro209Gln mutation in the BAG3 gene, which was associated with onset in adulthood, a mild phenotype and an axonal sensorimotor polyneuropathy, in the absence of giant axons at the nerve biopsy. We revealed several novel clinical phenotypes and unusual multisystemic presentations with previously described mutations: hearing impairment with a FLNC mutation, dysphonia with a mutation in DES and the first patient with a FLNC mutation presenting respiratory insufficiency as the initial symptom. Moreover, we described for the first time respiratory insufficiency occurring in a patient with the p.Gly154Ser mutation in CRYAB. Interestingly, we detected a polyneuropathy in 28% of the MFM patients, including a BAG3 and a MYOT case, and hearing impairment in 13%, including one patient with a FLNC mutation and two with mutations in the DES gene. In four index patients with a mutation in one of the MFM genes, typical histological findings were only identified at the ultrastructural level (29%). Conclusions: We conclude that extraskeletal symptoms frequently occur in MFM, particularly cardiac and respiratory involvement, polyneuropathy and/or deafness. BAG3 mutations should be considered even in cases with a mild phenotype or an adult onset. We identified a genetic defect in one of the known genes in less than half of the MFM patients, indicating that more causative genes are still to be found. Next generation sequencing techniques should be helpful in achieving this aim

Lithium reduces apoptosis and autophagy after neonatal hypoxia–ischemia

Lithium is used in the treatment of bipolar mood disorder. Reportedly, lithium can be neuroprotective in models of adult brain ischemia. The purpose of this study was to evaluate the effects of lithium in a model of neonatal hypoxic–ischemic brain injury. Nine-day-old male rats were subjected to unilateral hypoxia–ischemia (HI) and 2 mmol/kg lithium chloride was injected i.p. immediately after the insult. Additional lithium injections, 1 mmol/kg, were administered at 24-h intervals. Pups were killed 6, 24 or 72 h after HI. Lithium reduced the infarct volume from 24.7±2.9 to 13.8±3.3 mm3 (44.1%) and total tissue loss (degeneration + lack of growth) from 67.4±4.4 to 38.4±5.9 mm3 (43.1%) compared with vehicle at 72 h after HI. Injury was reduced in the cortex, hippocampus, thalamus and striatum. Lithium reduced the ischemia-induced dephosphorylation of glycogen synthase kinase-3β and extracellular signal-regulated kinase, the activation of calpain and caspase-3, the mitochondrial release of cytochrome c and apoptosis-inducing factor, as well as autophagy. We conclude that lithium could mitigate the brain injury after HI by inhibiting neuronal apoptosis. The lithium doses used were in the same range as those used in bipolar patients, suggesting that lithium might be safely used for the avoidance of neonatal brain injury