Evidence of extensive non-allelic gene conversion among LTR elements in the human genome

Long Terminal Repeats (LTRs) are nearly identical DNA sequences found at either end of Human Endogenous Retroviruses (HERVs). The high sequence similarity that exists among different LTRs suggests they could be substrate of ectopic gene conversion events. To understand the extent to which gene conversion occurs and to gain new insights into the evolutionary history of these elements in humans, we performed an intra-species phylogenetic study of 52 LTRs on different unrelated Y chromosomes. From this analysis, we obtained direct evidence that demonstrates the occurrence of ectopic gene conversion in several LTRs, with donor sequences located on both sex chromosomes and autosomes. We also found that some of these elements are characterized by an extremely high density of polymorphisms, showing one of the highest nucleotide diversities in the human genome, as well as a complex patchwork of sequences derived from different LTRs. Finally, we highlighted the limits of current short-read NGS studies in the analysis of genetic diversity of the LTRs in the human genome. In conclusion, our comparative re-sequencing analysis revealed that ectopic gene conversion is a common event in the evolution of LTR elements, suggesting complex genetic links among LTRs from different chromosomes

Stem cells in clinical practice: applications and warnings

Stem cells are a relevant source of information about cellular differentiation, molecular processes and tissue homeostasis, but also one of the most putative biological tools to treat degenerative diseases. This review focuses on human stem cells clinical and experimental applications. Our aim is to take a correct view of the available stem cell subtypes and their rational use in the medical area, with a specific focus on their therapeutic benefits and side effects. We have reviewed the main clinical trials dividing them basing on their clinical applications, and taking into account the ethical issue associated with the stem cell therapy

On codimension-1 submanifolds of the real and complex projective space

Inspired by the analogous result in the algebraic setting (Theorem1) we show (Theorem2) that the product M 7 RP^n of a closed and orientable topological manifold M with the n-dimensional real projective space cannot be embedded into RP^(m+n+1) for all even n > m

Inter- and intraspecies phylogenetic analyses reveal extensive X-Y gene conversion in the evolution of gametologous sequences of human sex chromosomes.

International audienceIt has long been believed that the male-specific region of the human Y chromosome (MSY) is genetically independent from the X chromosome. This idea has been recently dismissed due to the discovery that X-Y gametologous gene conversion may occur. However, the pervasiveness of this molecular process in the evolution of sex chromosomes has yet to be exhaustively analyzed. In this study, we explored how pervasive X-Y gene conversion has been during the evolution of the youngest stratum of the human sex chromosomes. By comparing about 0.5 Mb of human-chimpanzee gametologous sequences, we identified 19 regions in which extensive gene conversion has occurred. From our analysis, two major features of these emerged: 1) Several of them are evolutionarily conserved between the two species and 2) almost all of the 19 hotspots overlap with regions where X-Y crossing-over has been previously reported to be involved in sex reversal. Furthermore, in order to explore the dynamics of X-Y gametologous conversion in recent human evolution, we resequenced these 19 hotspots in 68 widely divergent Y haplogroups and used publicly available single nucleotide polymorphism data for the X chromosome. We found that at least ten hotspots are still active in humans. Hence, the results of the interspecific analysis are consistent with the hypothesis of widespread reticulate evolution within gametologous sequences in the differentiation of hominini sex chromosomes. In turn, intraspecific analysis demonstrates that X-Y gene conversion may modulate human sex-chromosome-sequence evolution to a greater extent than previously thought

A deep learning mixed-data type approach for the classification of FHR signals

The Cardiotocography (CTG) is a widely diffused monitoring practice, used in Ob-Gyn Clinic to assess the fetal well-being through the analysis of the Fetal Heart Rate (FHR) and the Uterine contraction signals. Due to the complex dynamics regulating the Fetal Heart Rate, a reliable visual interpretation of the signal is almost impossible and results in significant subjective inter and intra-observer variability. Also, the introduction of few parameters obtained from computer analysis did not solve the problem of a robust antenatal diagnosis. Hence, during the last decade, computer aided diagnosis systems, based on artificial intelligence (AI) machine learning techniques have been developed to assist medical decisions. The present work proposes a hybrid approach based on a neural architecture that receives heterogeneous data in input (a set of quantitative parameters and images) for classifying healthy and pathological fetuses. The quantitative regressors, which are known to represent different aspects of the correct development of the fetus, and thus are related to the fetal healthy status, are combined with features implicitly extracted from various representations of the FHR signal (images), in order to improve the classification performance. This is achieved by setting a neural model with two connected branches, consisting respectively of a Multi-Layer Perceptron (MLP) and a Convolutional Neural Network (CNN). The neural architecture was trained on a huge and balanced set of clinical data (14.000 CTG tracings, 7000 healthy and 7000 pathological) recorded during ambulatory non stress tests at the University Hospital Federico II, Napoli, Italy. After hyperparameters tuning and training, the neural network proposed has reached an overall accuracy of 80.1%, which is a promising result, as it has been obtained on a huge dataset

Influence of Gestational Diabetes on Fetal Heart Rate in Antepartum Cardiotocographic Recordings

In pregnancy, diabetes is known to increase the risk of adverse maternal and neonatal outcomes. It would be beneficial to find techniques that allow early investigation of the physio-pathological mechanisms involved to provide clinicians with tools for prevention and therapies. For that, cardiotocography (CTG) is a promising tool. However, the evidence is still scarce and the impact on clinical practice little. In this study, we aim at characterizing the changes induced by gestational diabetes (GDM) on the fetal heart rate series. To do so, we performed a retrospective cohort study on a CTG dataset containing more than 20000 recordings of which 852 belong to 301 GDM-diagnosed patients. We divided the recordings by gestational age (G.A.) into 4 groups (weeks: 31-35, 36, 37, 38 to delivery) and for each we identified a control population of equal size matched by comorbidities. We analyzed a comprehensive set of parameters from the time domain, frequency domain and non-linear analysis and assessed variations in median values on each feature. For all G.A. below the 38th week, we found a significant increase in the power in the movement frequency band (p<0.01) and an increase in the absolute value of Deceleration Reserve (p<0.01) in GDM vs control. Other significant values were also identified and are discussed in more detail in the paper

A retrospective study after 10 years (2010–2019) of meat inspection activity in a domestic swine abattoir in tuscany: The slaughterhouse as an epidemiological observatory

Veterinarians belonging to the Health Authorities are responsible for the safety of food of animal origin. The control activities performed at the slaughterhouse comprise inspections before and after slaughtering to verify the health and welfare of the animals and the wholesomeness of the animal products. In this study, data deriving from ten years (2010-2019) of meat inspection activity in a pig slaughterhouse in Tuscany (Italy) were analyzed to investigate the frequencies of death during transport of whole carcass and partial condemnations and their causes. In total 1,246,309 pigs from 8 different regions of Central and Northern Italy were slaughtered. The mortality rate was found to be lower than the threshold internationally recommended to ensure animal welfare and in line with the mortality values reported at the European level. Overalls 372 carcasses were condemned mainly due to erysipelas, generalized jaundice, lipomatous pseudohypertrophy, generalized abscesses, acute or generalized enteritis, and peritonitis. As regards partial condemnations, liver, lungs, and kidney were the most frequently condemned organs. The results of this study describe a non-worrying situation as regards to the investigated aspects and confirm the slaughterhouse as a privileged observation point for monitoring the trend of the main diseases over time, the results of the efforts for their control, and also the compliance with animal welfare standards

Liver collision lesion: inflammatory hepatocellular adenoma within focal nodular hyperplasia

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First evidence of resistance to pyrethroid insecticides in Italian Aedes albopictus populations after 26 years since invasion

Aedes albopictus has spread during the last decades all over the world. This has increased significantly the risk of exotic arbovirus transmission (e.g. Chikungunya, Dengue, and Zika) also in temperate areas, as testified by the Chikungunya 2007- and 2017-outbreaks in north-east and central Italy. Insecticides represent a main tool for limiting the circulation of these mosquito-borne viruses. The aim of the present study is to start filling the current gap of knowledge on pyrethroid insecticide resistance of European Ae. albopictus populations focusing on populations from Italy, Albania and Greece

First evidence of pyrethroid resistance in Italian populations of West Nile virus vector Culex pipiens

13openInternationalItalian coauthor/editorCulex pipiens (Linnaeus), one of the most abundant mosquito species in Europe, plays a crucial role in the endemic transmission of West Nile virus and caused the large outbreak with >1600 human cases in 2018. Although evidence of resistance to pyrethroids has been reported for Cx. pipiens populations from Spain and Greece, resistance monitoring has been largely neglected in Italy. Herein, we investigate susceptibility of Italian Cx. pipiens populations to the pyrethroids permethrin and deltamethrin. Results from WHO-tube-bioassays revealed mortalities ranging from 14–54%, indicating high levels of resistance, in four out of 10 populations exposed to permethrin (0.75%) and of 63% in one of three populations exposed to deltamethrin (0.05%). Reduced susceptibility (mortality<98%) was detected in almost all other populations. A clear association is shown between the resistant phenotype and the presence of kdr-alleles in position 1014 of the VSSC, strongly suggesting its role in reducing susceptibility. The study provides the first evidence of pyrethroid-resistance in Italian Cx. pipiens populations and reports levels of resistance paralleled in the European region only in Turkey. This highlights the urgent need to implement insecticide-resistance management plans to restore the efficacy of the nowadays only chemical weapon available to control arbovirus transmission in Europe.openPichler, Verena; Giammarioli, Carola; Bellini, Romeo; Veronesi, Rodolfo; Arnoldi, Daniele; Rizzoli, Annapaola; Lia, Riccardo Paolo; Otranto, Domenico; Ballardini, Marco; Cobre, Pietro; Serini, Paola; Della Torre, Alessandra; Caputo, BeniaminoPichler, V.; Giammarioli, C.; Bellini, R.; Veronesi, R.; Arnoldi, D.; Rizzoli, A.; Lia, R.P.; Otranto, D.; Ballardini, M.; Cobre, P.; Serini, P.; Della Torre, A.; Caputo, B