GENETICS OF LINEAR TYPE TRAITS IN LOCAL DUAL PURPOSE BREEDS AND RELATIONSHIPS WITH PRODUCTIVE TRAITS

Linear type traits describe biological extremes for a range of visual characteristics of an animal and one of the primary reason for collecting them is to allow breeders to select the most functional and profitable cows. Following this main objective, every year the National Breeders Associations train specific classifiers with the purpose to evaluate linear type traits in cows. Using data from the morphological evaluations on two Italian dual-purpose autochthonous breeds, the scores for each type trait has been investigated aiming to assess their genetic aspects and their correlations with the productive traits. Selection goals among the dual-purpose and indigenous breeds used in the study are very similar and lead to maintain both milk and meat production aptitudes. For this reason, the Associations give great emphasis to detect the correct weights to attribute to traits included in the indexes. The understanding of the genetics of both morphological and productive traits is therefore fundamental. The first two steps of the study have been conducted for two different dual-purpose breeds, but following almost the same analysis and taking into account in the model the same effects: the fixed effect of herd-year-classifier contemporary group, the days in milk and age at calving accounted into different classes and the genetic effect of the animal. For the first study, data regarding 20 different type traits from 10,735 first parity cows of the Italian Rendena breed (mainly raised in Trentino Alto Adige region, Italy) were analysed through single trait animal model for the heritability estimates evaluation and using a multi-trait animal model to assess the genetic and phenotypic correlations between type traits. The most heritable type trait was stature (0.52), whereas the lowest was feet (0.12). The same group of type traits showed strong genetic correlations: ≥0.69 among the individual body size traits, ≥0.87 among the individual muscularity traits, from -0.39 to 0.22 among the individual body shape traits, whereas a wider range were found among the individual udder traits (from –0.39 to 0.91). Furthermore, almost all the genetic correlations between the individual muscularity and individual udder traits resulted negative (from -0.53 between shoulder fore view and rear udder attachment, to -0.15 between back, loins and rump and teat placement side view), with only few exception represented by genetic correlations of udder depth and teat length with all the four individual muscularity traits that showed slightly positive correlations (from 0.07 to 0.31). In this first step, also the genetic trends from 2000 to 2009 of type traits have been analysed. The most important result was that the genetic merit for muscularity traits decreased, whereas the genetic merit of the individual udder traits slowly increased over time, meaning that the dual-purpose characteristics of the Rendena cows are becoming more like specialized in milk production. The second step of the study was carried out with the aim to evaluate the genetic parameters of linear type traits in another dual-purpose indigenous breed: the Valdostana breed (mainly raised in Valle d’Aosta region, Italy). Morphological evaluations on 25,183 cows of the Aosta Red Pied (ARP) strain and 14,701 cows of the Aosta Black Pied and Chestnut (ABP-CHES) strain were used to analyse heritability and genetic correlations of 26 different type traits within strain. Heritability estimates obtained from the single-trait animal model analysis ranged from 0.03 (thinness for both strains) to 0.32 (ARP) and 0.29 (ABP-CHES) of stature. Regarding the genetic correlations between the individual type traits, for ARP strain the strongest correlation was between thigh, buttocks side and rear view (0.97), whereas for the ABP-CHES strain the highest correlations were observed between stature and body length (0.98), meaning that selecting for one trait lead to the simultaneous improvement of the other. Also for the Valdostana breed, most of the genetic correlations between muscularity and udder traits resulted negative, especially those involving udder volume. These results indicate a substantial antagonistic behaviour of type traits related to dairy and beef characteristics of animals. The following step has been addressed to the analysis of a simpler way to manage the large number of information given by the type traits scored on animals and managed by the Breeders Associations. To avoid redundant information in selection indexes, only a limited number of type traits with a known biological relationship with production should be used in the morphological evaluation. Factor analysis resulted to be a useful procedure to group type traits, so that correlated traits could be isolated in the same factor, and therefore each factor could include traits with common biological characteristics. In this study, a factor analysis was applied to 20 individual linear type traits evaluated on 11,399 Rendena cows, and to 22 individual linear type traits evaluated on 36,168 ARP cows. From this procedure, six latent common factors, for each breed, with eigenvalues ≥1 were obtained, explaining 63% (Rendena) and 58% (ARP) of the total variance. For both breeds, factor 1 (F1) included type traits mainly related to muscularity and factor 2 (F2) to body size traits. Factor 3 (F3) and factor 4 (F4) accounted for udder size and udder conformation type traits, respectively. Type traits regarded feet and legs were included in factor 5 (F5), whereas factor 6 (F6) did not show any biological meaning. The greatest heritability estimates trough the REML single-trait animal model for factor scores were 0.52 in the Rendena and 0.37 in the ARP, respectively for F2. Heritability for F1 resulted 0.40 for the Rendena, and 0.32 for the ARP. Rank correlations between Estimated Breeding Value (EBV) of the individual type traits and of factors showed strongly similar coefficients than those observed in factor analysis. From this study, it was appreciable that for both breeds the number of linear type traits could be easily represented by few factors without reducing in accuracy in describing the conformation of animals evaluated from classifiers. Therefore, the use of factor analysis in genetic evaluation could be taken into account for the morphological evaluation aimed at obtaining individual EBVs. The final step of the study was to estimate the relationships between linear type traits and milk production traits. Factor analysis was applied to muscularity and udder individual type traits for 33,206 first and second parity cows belonging to the Aosta Red Pied strain of the Valdostana breed, obtaining three latent factors. The F1 reflected the individual muscularity traits, F2 included dimensional udder traits, and finally, F3 represented a good dairy conformation. Furthermore, data from 169,008 test-day (TD) yield records, regarding milk, fat and protein content (kg/day), belonging to the first 3 lactations of 16,605 cows were analysed. Through a series of AIREML single-trait analysis, genetic parameters of both morphological factors and milk related traits were obtained. The models for the two datasets accounted for different effects: for the morphological information, herd-year-classifier, classes of age at calving and of days in milk as fixed effects, and the random additive effect of cow were taken into account. For milk traits, herd-TD within lactation, classes of gestation, classes of age at parity and of month of parity both within lactation, and permanent environment effect were considered for the repeatability TD model, together with the additive genetic component. All the previous effects were jointly retained for the AIREML bi-trait analysis, to assess the phenotypic and genetic correlations among and between traits. Heritability estimates were moderate for both group of traits. F1, F2 and F3 showed heritability values of 0.31, 0.17 and 0.20, whereas milk, fat and protein content presented values of 0.20, 0.13 and 0.17, respectively. Strong and positive genetic correlations were found between all the three milk production traits and F2 (udder dimension traits; ȓ ≥0.83). On the other hand, negative genetic correlations were obtained between milk yield traits and both F1 (muscularity traits) and F3 (udder conformation traits), ranging from -0.23 to -0.53. Phenotypic correlations resulted lower than the genetic ones in all the four steps analysed. Results from this study could be of great interest in planning the correct weights to give to analysed traits in case of simultaneous selection, as possible for dual purpose breeds like those taken into account. Indeed, in both the Rendena and the Valdostana breeds the selection for purposes play an important role, and represent the main selection goal in both Breeders Associations. Therefore, a deep understanding of the relationships between the antagonistic muscularity and udder type traits and also between them and the productive traits should be of the primary interest for future breeding plans in the two breeds

Factors Affecting Linear Type Traits of Valdostana Cattle

Four composite and 22 individual linear type traits, measured between 1997 and 2012 on 33,206 Aosta Red Pied (ARP) and 19,551 Aosta Black Pied and Aosta Chestnut (ABP-CN) strains of Valdostana cattle, were used to investigate the non-genetic factors affecting morphological evaluation. Average values for type traits ranged from 2.81 (teat placement rear view and foot angle) to 3.34 (thinness) for ARP, and from 2.48 (teat placement side view) to 3.67 (udder depth) for ABP-CN. Results from the ANOVA showed significant effect of herd-year-classifier on type traits of both ARPand ABP-CN, and of days in milk and age at calving for almost all traits, with few exceptions. The model used in this study is a useful starting point to calculate genetic parameters for Valdostana cattle

Genetic correlations between type and test-day milk yield in small dual purpose cattle populations: the Aosta Red Pied breed as a case study.

This study aimed at estimating the relationships between linear type traits and milk production in the dual purpose Aosta Red Pied (ARP) cattle breed, by expressing type traits as factor scores with the same biological meaning of the individual traits. Factor analysis was applied to individual type traits for muscularity and udder of 32,275 first parity ARP cows, obtaining 3 factors scores for individual muscularity (F1), udder side (F2) and udder conformation (F3). Data from 169,008 test-day records of milk, fat and protein yield (kg), belonging to the first 3 lactations of 16,605 cows were also analyzed. After obtaining genetic parameters for both morphological factors and milk production traits through a series of AIREML single-trait models, bivariate analyses were performed on a dataset accounting for 201,283 records of 35,530 cows, to assess the phenotypic and genetic correlations among all factor scores and milk yield traits. The heritability estimates obtained proved to be moderate for both groups of traits, ranging from 0.132 (fat) to 0.314 (F1). Muscularity factor showed moderate and negative genetic correlations (ra) with udder size (-0.376) and udder conformation (0.214) factors. A low and negative ra was found between udder factors. Strong and positive ra were found among all the 3 milk production traits and F2 (ra ≥ 0.597). Negative ra with milk traits were obtained for both F1 and F3, ranging from -0.417 to -0.221. Phenotypic correlations resulted lower than the genetic ones, and sometimes close to zero. The antagonism between milk production and meat attitude traits suggests that great attention should be paid in assigning proper weight to the traits, comprising functional traits such as udder conformation, included in selection indices for the dual purpose breed. The ra obtained for factor scores are consistent with previous estimates for the corresponding individual type traits, and this confirms the possible use of factor analysis to improve type traits relevant to beef attitude

Cardiac influence of the β3-adrenoceptor in the goldfish (Carassius auratus): a protective role under hypoxia?

The goldfish (Carassius auratus) exhibits a remarkable capacity to survive and remain active under prolonged and severe hypoxia, representing a well-suited model to study cardiac function when oxygen availability represents a limiting factor. Under hypoxia, the goldfish heart increases its performance, this representing a putative component of hypoxia tolerance; however, underlying mechanisms have not been yet elucidated. We aimed to investigate the role of β3-ARs in the mechanisms which modulate the goldfish heart performance, also in relation to oxygen levels. By western blotting analysis, we found that the goldfish heart expresses β3-ARs, and this expression increases under hypoxia. Effects of β3-ARs stimulation were analysed by using an ex vivo working heart preparation. Under normoxia, the β3-ARs selective agonist BRL37344 (10−12-10−7M) elicited a concentration-dependent increase of contractility abolished by the specific β3-AR antagonist (SR59230A; 10−8M), but not by α/β1/β2-ARs inhibitors (phentolamine, nadolol, and ICI118,551; 10−7M). Under acute hypoxia, BRL37344 did not affect the goldfish heart performance. However, SR59230A, but not phentolamine, nadolol, and ICI118,551, abolished the time-dependent enhancement of contractility which characterizes the hypoxic goldfish heart. Under both normoxia and hypoxia, adenylate cyclase and cAMP were found to be involved in the β3-ARs-dependent downstream transduction pathway. Our findings suggest the presence of functional β3-ARs in the goldfish heart, whose activation modulates the basal performance and contributes to the hypoxia-dependent increase of contractility

Parenting-Related Exhaustion During the Italian COVID-19 Lockdown

Worldwide, the coronavirus disease 2019 (COVID-19) pandemic has generated significant worry, uncertainty, anxiety, sadness, and loneliness. In Italy, these effects have been particularly pronounced. While research on the COVID-19 outbreak has mainly focused on the clinical features of infected patients and the psychological impact on the general population and health professionals, no investigation has yet assessed the psychological impact of the pandemic on parents. In the present research, we conducted a web-based survey of Italian parents to examine the prevalence of parenting-related exhaustion-and to identify its associated risk and protective factors-4 weeks into the lockdown

Factors Affecting Linear Type Traits of Valdostana Cattle

Four composite and 22 individual linear type traits, measured between 1997 and 2012 on 33,206 Aosta Red Pied (ARP) and 19,551 Aosta Black Pied and Aosta Chestnut (ABP-CN) strains of Valdostana cattle, were used to investigate the non-genetic factors affecting morphological evaluation. Average values for type traits ranged from 2.81 (teat placement rear view and foot angle) to 3.34 (thinness) for ARP, and from 2.48 (teat placement side view) to 3.67 (udder depth) for ABP-CN. Results from the ANOVA showed significant effect of herd-year-classifier on type traits of both ARPand ABP-CN, and of days in milk and age at calving for almost all traits, with few exceptions. The model used in this study is a useful starting point to calculate genetic parameters for Valdostana cattle

New Insights and Perspectives in Congenital Diarrheal Disorders

Purpose of Review We highlight new entities of congenital diarrheal disorders (CDDs) and progresses in understanding of functionally related genes, opening new diagnostic and therapeutic perspectives. Recent Findings The more significant advances have been made in field of pathogenesis, encouraging a better under- standing not only of these rare diseases but also of more com- mon pathogenetic mechanisms. Summary CDDs represent an evolving group of rare chronic enteropathies with a typical onset early in the life. Usually, severe chronic diarrhea is the main clinical manifestation, but in other cases, diarrhea is only a component of a more complex systemic disease. The number of conditions has gradually increased, and many new genes have been indentified and functionally related to CDDs, opening new diagnostic and therapeutic perspectives. Advances in molecu- lar analysis procedures havemodified the diagnostic approach in CDDs, leading to a reduction in invasive and expensive procedures. Keywords Chronic diarrhe

Selenoprotein T as a new positive inotrope in the goldfish, Carassius auratus.

Selenoprotein T (SELENOT) is a thioredoxin-like protein, which mediates oxidoreductase functions via its redox active motif Cys-X-X-Sec. In mammals, SELENOT is expressed during ontogenesis and progressively decreases in adult tissues. In the heart, it is re-expressed after ischemia and induces cardioprotection against ischemia/reperfusion (I/R) injury. SELENOT is present in teleost fish, including the goldfish Carassius auratus. This study aimed to evaluate the cardiac expression of SELENOT, and the effects of exogenous PSELT (a 43-52 SELENOT derived-peptide) on the heart function of C. auratus, a hypoxia tolerance fish model. We found that SELENOT was expressed in cardiac extracts of juvenile and adult fish, located in the sarcoplasmic reticulum (SR) together with calsequestrin-2. Expression increased under acute hypoxia. On ex vivo isolated and perfused goldfish heart preparations, under normoxia, PSELT dose-dependently increased Stroke Volume (SV), Cardiac Output (Q̇), and Stroke Work (SW), by involving cAMP, PKA, L-type calcium channels, SERCA2a pumps, and pAkt. Under hypoxia, PSELT did not affect myocardial contractility. Only at higher concentrations (10−8 -10−7 M) an increase of SV and Q̇ was observed. It also reduced the cardiac expression of 3-NT, a tissue marker of nitrosative stress which increases under low oxygen availability. These data are the first to propose SELENOT 43-52, PSELT, as a cardiac modulator in fish, with a potential protective role under hypoxia

Neutrophil gelatinase-associated lipocalin and acute kidney injury in endovascular aneurysm repair or open aortic repair: a pilot study

Introduction: Acute kidney injury (AKI) occurs frequently after abdominal aortic surgery and there is currently no effective marker able to detect early onset. The aim of this study is to evaluate the ability of neutrophil gelatinase-associated lipocalin (NGAL) to early identify the development of acute renal damage in patients undergoing endovascular aneurysm repair (EVAR) or open aortic repair (OAR). Materials and methods: Serial samples of blood and urine were obtained from 25 patients undergoing both EVAR and OAR. Seven male subjects with AKI and 18 subjects with no-AKI (17 males, 1 female) were included in the study. We determined concentrations of serum creatinine (sCr) and urinary, serum and whole blood NGAL (uNGAL, sNGAL, bNGAL) collected at baseline, and after 4 and 18 hours. AKI was defined according to the RIFLE criteria (risk, injury, failure, loss of kidney function, and end-stage kidney disease): increase by 50% in sCr or reduction of at least 25% of estimated glomerular filtration rate (eGFR) from baseline. Results: Seven patients developed AKI in the stage Risk. There was no significant difference in sNGAL concentrations in the AKI group as compared to no-AKI group. However, the uNGAL/uCreatinine ratio and bNGAL concentrations were significantly higher after 18 hours in the AKI group (no-AKI 1.69 (0.91 - 2.47) vs AKI 3.2 (2.08 - 5.92) ng/mg for uNGAL/uCreatinine ratio, P = 0.036; and no-AKI 83 (59 - 131) vs AKI 164 (126 – 263) ng/mL for bNGAL, P = 0.029). Conclusions: Our results suggest that uNGAL, sNGAL and bNGAL, after abdominal aortic surgery, are not suitable as early biomarkers of AKI

Results from CHIPIX-FE0, a Small Scale Prototype of a New Generation Pixel Readout ASIC in 65nm CMOS for HL-LHC

CHIPIX65-FE0 is a readout ASIC in CMOS 65nm designed by the CHIPIX65 project for a pixel detector at the HL-LHC, consisting of a matrix of 64x64 pixels of dimension 50x50 μm2. It is fully functional, can work at low thresholds down to 250e− and satisfies all the specifications. Results confirm low-noise, fast performance of both the synchronous and asynchronous front-end in a complex digital chip. CHIPIX65-FE0 has been irradiated up to 600 Mrad and is only marginally affected on analog performance. Further irradiation to 1 Grad will be performed. Bump bonding to silicon sensors is now on going and detailed measurements will be presented. The HL-LHC accelerator will constitute a new frontier for particle physics after year 2024. One major experimental challenge resides in the inner tracking detectors, measuring particle position: here the dimension of the sensitive area (pixel) has to be scaled down with respect to LHC detectors. This paper describes the results obtained by CHIPIX65-FE0, a readout ASIC in CMOS 65nm designed by the CHIPIX65 project as small-scale demonstrator for a pixel detector at the HL-LHC. It consists of a matrix of 64x64 pixels of dimension 50x50 um2 pixels and contains several pieces that are included in RD53A, a large scale ASIC designed by the RD53 Collaboration: two out of three front-ends (a synchronous and an asynchronous architecture); several building blocks; a (4x4) pixel region digital architecture with central local buffer storage, complying with a 3 GHz/cm2 hit rate and a 1 MHz trigger rate maintaining a very high efficiency (above 99%). The chip is 100% functional, either running in triggered or trigger-less mode. All building-blocks (DAC, ADC, Band Gap, SER, sLVS-TX/RX) and very front ends are working as expected. Analog performance shows a remarkably low ENC of 90e-, a fast-rise time below 25ns and low-power consumption (about 4μA/pixel) in both synchronous and asynchronous front-ends; a very linear behavior of CSA and discriminator. No significant cross talk from digital electronics has been measured, achieving a low threshold of 250e-. Signal digitization is obtained with a 5b-Time over Threshold technique and is shown to be fairly linear, working well either at 80 MHz or with higher frequencies of 300 MHz obtained with a tunable local oscillator. Irradiation results up to 600 Mrad at low temperature (-20°C) show that the chip is still fully functional and analog performance is only marginally degraded. Further irradiation will be performed up to 1 Grad either at low or room temperature, to further understand the level of radiation hardness of CHIPIX65-FE0. We are now in the process of bump bonding CHIPIX65-FE0 to 3D and possibly planar silicon sensors during spring. Detailed results will be presented in the conference paper