A meta-analysis of genetic and phenotypic diversity of European local pig breeds reveals genomic regions associated with breed differentiation for production traits.

BACKGROUND: Intense selection of modern pig breeds has resulted in genetic improvement of production traits while the performance of local pig breeds has remained lower. As local pig breeds have been bred in extensive systems, they have adapted to specific environmental conditions, resulting in a rich genotypic and phenotypic diversity. This study is based on European local pig breeds that have been genetically characterized using DNA-pool sequencing data and phenotypically characterized using breed level phenotypes related to stature, fatness, growth, and reproductive performance traits. These data were analyzed using a dedicated approach to detect signatures of selection linked to phenotypic traits in order to uncover potential candidate genes that may underlie adaptation to specific environments. RESULTS: Analysis of the genetic data of European pig breeds revealed four main axes of genetic variation represented by the Iberian and three modern breeds (i.e. Large White, Landrace, and Duroc). In addition, breeds clustered according to their geographical origin, for example French Gascon and Basque breeds, Italian Apulo Calabrese and Casertana breeds, Spanish Iberian, and Portuguese Alentejano breeds. Principal component analysis of the phenotypic data distinguished the larger and leaner breeds with better growth potential and reproductive performance from the smaller and fatter breeds with low growth and reproductive efficiency. Linking the signatures of selection with phenotype identified 16 significant genomic regions associated with stature, 24 with fatness, 2 with growth, and 192 with reproduction. Among them, several regions contained candidate genes with possible biological effects on stature, fatness, growth, and reproductive performance traits. For example, strong associations were found for stature in two regions containing, respectively, the ANXA4 and ANTXR1 genes, for fatness in a region containing the DNMT3A and POMC genes and for reproductive performance in a region containing the HSD17B7 gene. CONCLUSIONS: In this study on European local pig breeds, we used a dedicated approach for detecting signatures of selection that were supported by phenotypic data at the breed level to identify potential candidate genes that may have adapted to different living environments and production systems.

Influence of weight variation on long-term mortality of patients with heart failure.

BACKGROUND: In heart failure, weight loss predicts dismal prognosis. Weight variations have not been addressed in obese patients with heart failure. AIM: To study the impact of weight variation on heart failure mortality according to body mass index strata. METHODS: Retrospective study of patients with chronic heart failure with left ventricular ejection fraction<50%. Only patients with ≥1 year of follow-up were included. Patients with missing data for body mass index at the index and 1-year appointments were excluded. Patients were classified into three groups according to weight variation: weight gain>5%; weight loss>5%; and weight stability. Follow-up was set from the 1-year appointment. Cox-regression analysis was used to assess the prognostic impact of weight variation. RESULTS: We studied 589 patients: 69.8% male; mean age, 69 years. Over 1 year, 148 patients (25.1%) gained>5% weight, 97 (16.5%) lost>5% weight and the remaining 344 were weight-stable. During 49 months of median follow-up, 248 patients died. Patients who lost>5% of their weight presented a higher death risk than the others (hazard ratio 1.61, 95% confidence interval 1.18-2.19). After multivariable adjustment, the hazard ratio for death for low/normal-weight patients who lost>5% of their weight was 1.81 (95% confidence interval 1.02-3.21; P=0.04) compared with the others. Among the overweight, those who lost>5% of their weight had a hazard ratio of 2.34 (95% confidence interval 1.32-4.12). In the initially obese subgroup, weight loss>5% was not associated with prognosis (hazard ratio 1.08, 95% confidence interval 0.53-2.19). CONCLUSIONS: Weight loss predicted mortality in low/normal-weight and overweight patients with heart failure. However, in obese patients, significant weight loss did not predict poorer survival. Weight loss should not be discouraged in obese patients with heart failure.

Reproductive Consequences of Electrolyte Disturbances in Domestic Animals.

Electrolyte balance is essential to maintain homeostasis in the body. The most crucial electrolytes are sodium (Na+), potassium (K+), magnesium (Mg2+), chloride (Cl-), and calcium (Ca2+). These ions maintain the volume of body fluids, and blood pressure, participate in muscle contractions, and nerve conduction, and are important in enzymatic reactions. The balance is mainly ensured by the kidneys, which are an important organ that regulates the volume and composition of urine, together with which excess electrolytes are excreted. They are also important in the reproductive system, where they play a key role. In the male reproductive system, electrolytes are important in acrosomal reaction and sperm motility. Sodium, calcium, magnesium, and chloride are related to sperm capacitation. Moreover, Mg2+, Ca2+, and Na+ play a key role in spermatogenesis and the maintenance of morphologically normal spermatozoa. Infertility problems are becoming more common. It is known that disturbances in the electrolyte balance lead to reproductive dysfunction. In men, there is a decrease in sperm motility, loss of sperm capacitation, and male infertility. In the female reproductive system, sodium is associated with estrogen synthesis. In the contraction and relaxation of the uterus, there is sodium, potassium, and calcium. Calcium is associated with oocyte activation. In turn, in women, changes in the composition of the follicular fluid are observed, leading to a restriction of follicular growth. Imbalance of oocyte electrolytes, resulting in a lack of oocyte activation and, consequently, infertility.

Fertility Rate and Assessment of the Cytoprotective Capacity of Various Types of Holothuroidea Extracts on Spermatozoa.

For years, compounds of natural origin have been the subject of extensive biomedical research due to very interesting, new ingredients potentially useful for various pharmaceutical, medical and industrial applications. The therapeutic properties and healing benefits of sea cucumbers may result from the presence of numerous, biologically active ingredients. Sperm subjected to processing and subsequent storage at low temperatures experience a number of damage, including the loss of the integrity of the cytoplasmic membrane, DNA and acrosome defragmentation. Therefore, the aim of this experiment was to investigate the cytoprotective potential of sea cucumber extract against cryopreserved sperm and semen fertility rate. Commercially available sea cucumber extract was taken from the cellulose shell, then 790 mg of powder was weighed out and placed in 3 glass tubes containing, respectively: 10 mL of water-glycerin solution (WG), water-ethanol (EC), glycerin-ethanol (GE), glycerin-DMSO (DG). Tubes were mixed with vortex for 3 min, then placed in a water bath and incubated for 16 h at 40 °C. Six simmental bulls, 3 years old, of known health status were used for the experiment. Semen was collected from each male once a week (for 18 weeks) using an artificial vagina. After an initial assessment of semen quality, the ejaculates were pooled to eliminate individual differences between males, then diluted to a final concentration of 80 × 106 sperm/mL with a commercial extender (Optixcell, IMV, L'Aigle, France) and divided into 16 equal samples. Control (C) without additive, the test samples contained 2, 4, 6, 8 and 10 µL WG, 2, 4, 6, 8 and 10 µL WE, 2, 4, 6, 8 and 10 µL GE, 2, 4, 6, 8 and 10 µL DG. Semen was frozen/thawed and assessed for motility, viability, DNA defragmentation, mitochondrial membrane potential and acrosome integrity. It was shown a positive effect of water-glycerin (WG) and glycerine-ethanol (GE) extracts on the efficiency of sperm preservation at low temperatures. Established that, depending on the type of prepared extract, the sea cucumber can have both cytoprotective (WG, GE, WE) and cytotoxic (DG) effects. Moreover, too high concentrations of the extract can adversely affect the sperm in terms of parameters such as viability, motility, mitochondrial potential, and the integrity of the acrosome or DNA of cells. The present study, thanks to the use of model animals to study the cytoprotective potential of the sea cucumber extract, proves that it can be a potential candidate for use in semen cryopreservation technology to improve the efficiency of storage at low temperatures. Further research is needed to optimize the composition of individual types of extracts and their effect on sperm. The highest effectiveness of female fertilization was observed when doses from GE groups (2 and 4) were used for insemination. The results of this analysis prove that the addition of the tested extract may improve the fertilization efficiency.

Clinical Application of Bioextracts in Supporting the Reproductive System of Animals and Humans: Potential and Limitations.

There is an increasing demand of spices and herbs in developing countries due to the beneficial effects of plants and herbal preparations as medicines. The basic technological process of obtaining extracts from natural raw materials is extraction, consisting in etching with solvents. Plant extracts are extremely complex, multicomponent mixtures obtained from flowers, fruits, leaves, stems, twigs, or seeds of various plant materials. They are a rich source of polyphenols, flavonoids, phytosterols, carotenoids, and vitamins. The search for alternative methods of treatment is increasingly replacing the scientists' excessive focus on the healing properties of bioextracts. Recent research offers great hope for the development of alternative methods to improve the reproductive system. The use of animal models in experimental research has increased knowledge regarding the beneficial effects of bioextracts on both male and female reproductive systems and reproductive cells. Demonstrating the positive effect of plant extracts creates new opportunities for the use of biowaste, which is a by-product in various production sectors. The aim of this review is to present the functional properties of extracts of natural origin, a cross section of modern methods of their preparation, and a discussion of the possibilities of their use in the auxiliary reproductive system.

Correction: Silva et al. Precision Technologies to Address Dairy Cattle Welfare: Focus on Lameness, Mastitis and Body Condition. Animals 2021, 11, 2253.

The authors (Silva, S.R., et al.) unintentionally omitted to cite the article by O'Leary et al. [...].

Precision Technologies to Address Dairy Cattle Welfare: Focus on Lameness, Mastitis and Body Condition.

Specific animal-based indicators that can be used to predict animal welfare have been the core of protocols for assessing the welfare of farm animals, such as those produced by the Welfare Quality project. At the same time, the contribution of technological tools for the accurate and real-time assessment of farm animal welfare is also evident. The solutions based on technological tools fit into the precision livestock farming (PLF) concept, which has improved productivity, economic sustainability, and animal welfare in dairy farms. PLF has been adopted recently; nevertheless, the need for technological support on farms is getting more and more attention and has translated into significant scientific contributions in various fields of the dairy industry, but with an emphasis on the health and welfare of the cows. This review aims to present the recent advances of PLF in dairy cow welfare, particularly in the assessment of lameness, mastitis, and body condition, which are among the most relevant animal-based indications for the welfare of cows. Finally, a discussion is presented on the possibility of integrating the information obtained by PLF into a welfare assessment framework.

Describing variability in pig genes involved in coronavirus infections for a One Health perspective in conservation of animal genetic resources.

Coronaviruses silently circulate in human and animal populations, causing mild to severe diseases. Therefore, livestock are important components of a "One Health" perspective aimed to control these viral infections. However, at present there is no example that considers pig genetic resources in this context. In this study, we investigated the variability of four genes (ACE2, ANPEP and DPP4 encoding for host receptors of the viral spike proteins and TMPRSS2 encoding for a host proteinase) in 23 European (19 autochthonous and three commercial breeds and one wild boar population) and two Asian Sus scrofa populations. A total of 2229 variants were identified in the four candidate genes: 26% of them were not previously described; 29 variants affected the protein sequence and might potentially interact with the infection mechanisms. The results coming from this work are a first step towards a "One Health" perspective that should consider conservation programs of pig genetic resources with twofold objectives: (i) genetic resources could be reservoirs of host gene variability useful to design selection programs to increase resistance to coronaviruses; (ii) the described variability in genes involved in coronavirus infections across many different pig populations might be part of a risk assessment including pig genetic resources.

Whole-genome sequencing of European autochthonous and commercial pig breeds allows the detection of signatures of selection for adaptation of genetic resources to different breeding and production systems.

BACKGROUND: Natural and artificial directional selection in cosmopolitan and autochthonous pig breeds and wild boars have shaped their genomes and resulted in a reservoir of animal genetic diversity. Signatures of selection are the result of these selection events that have contributed to the adaptation of breeds to different environments and production systems. In this study, we analysed the genome variability of 19 European autochthonous pig breeds (Alentejana, Bísara, Majorcan Black, Basque, Gascon, Apulo-Calabrese, Casertana, Cinta Senese, Mora Romagnola, Nero Siciliano, Sarda, Krskopolje pig, Black Slavonian, Turopolje, Moravka, Swallow-Bellied Mangalitsa, Schwäbisch-Hällisches Schwein, Lithuanian indigenous wattle and Lithuanian White old type) from nine countries, three European commercial breeds (Italian Large White, Italian Landrace and Italian Duroc), and European wild boars, by mining whole-genome sequencing data obtained by using a DNA-pool sequencing approach. Signatures of selection were identified by using a single-breed approach with two statistics [within-breed pooled heterozygosity (HP) and fixation index (FST)] and group-based FST approaches, which compare groups of breeds defined according to external traits and use/specialization/type. RESULTS: We detected more than 22 million single nucleotide polymorphisms (SNPs) across the 23 compared populations and identified 359 chromosome regions showing signatures of selection. These regions harbour genes that are already known or new genes that are under selection and relevant for the domestication process in this species, and that affect several morphological and physiological traits (e.g. coat colours and patterns, body size, number of vertebrae and teats, ear size and conformation, reproductive traits, growth and fat deposition traits). Wild boar related signatures of selection were detected across all the genome of several autochthonous breeds, which suggests that crossbreeding (accidental or deliberate) occurred with wild boars. CONCLUSIONS: Our findings provide a catalogue of genetic variants of many European pig populations and identify genome regions that can explain, at least in part, the phenotypic diversity of these genetic resources.

The cholesterol paradox may be attenuated in heart failure patients with diabetes.

BACKGROUND: In heart failure (HF) patients, a lower total cholesterol (TC) appears to portend an ominous prognosis. We studied if the prognostic impact of TC was different according to diabetes mellitus (DM) status in a chronic HF population. METHODS: Patients with systolic HF under optimized and stable evidence-based therapy were prospectively recruited from our HF clinic. We excluded patients on renal replacement therapy and those hospitalized in the previous 2 months. A venous blood sample was collected. Patients were followed for up to 5 years and all-cause mortality was the endpoint under analysis. The prognostic impact of TC was analyzed using a Cox-regression analysis. Analysis was stratified according to coexistence of DM. RESULTS: We studied 262 chronic HF patients, 182 males, mean age 69 years, 98 (37.4%) diabetic and 62.2% with severe left ventricular systolic dysfunction. Median B-type natriuretic peptide: 237.8 pg/mL; median TC: 169 mg/dL. During follow-up 121 (46.2%) patients died. Patients with TC>200 mg/dL had better survival than those with lower TC; however, this protective effect was mostly observed in non-diabetic HF patients. In non-diabetics the multivariate adjusted 5-year mortality hazard ratio (HR) was 0.36 (95% CI: 0.16-0.79) for those with TC>200 mg/dL. In diabetic HF patients, there was a non-significant survival benefit of TC>200 mg/dL; HR 0.51 (95% CI: 0.20-1.30). CONCLUSIONS: Non-diabetic chronic HF patients with TC>200 mg/dL have a 64% lower risk of 5-year death. In diabetics, there is a non-significant 49% protective effect of elevated TC. The cholesterol paradox may be attenuated in diabetic HF patients.

Diversity across major and candidate genes in European local pig breeds.

The aim of this work was to analyse the distribution of causal and candidate mutations associated to relevant productive traits in twenty local European pig breeds. Also, the potential of the SNP panel employed for elucidating the genetic structure and relationships among breeds was evaluated. Most relevant genes and mutations associated with pig morphological, productive, meat quality, reproductive and disease resistance traits were prioritized and analyzed in a maximum of 47 blood samples from each of the breeds (Alentejana, Apulo-Calabrese, Basque, Bísara, Majorcan Black, Black Slavonian (Crna slavonska), Casertana, Cinta Senese, Gascon, Iberian, Krskopolje (Krskopoljski), Lithuanian indigenous wattle, Lithuanian White Old Type, Mora Romagnola, Moravka, Nero Siciliano, Sarda, Schwäbisch-Hällisches Schwein (Swabian Hall pig), Swallow-Bellied Mangalitsa and Turopolje). We successfully analyzed allelic variation in 39 polymorphisms, located in 33 candidate genes. Results provide relevant information regarding genetic diversity and segregation of SNPs associated to production and quality traits. Coat color and morphological trait-genes that show low level of segregation, and fixed SNPs may be useful for traceability. On the other hand, we detected SNPs which may be useful for association studies as well as breeding programs. For instance, we observed predominance of alleles that might be unfavorable for disease resistance and boar taint in most breeds and segregation of many alleles involved in meat quality, fatness and growth traits. Overall, these findings provide a detailed catalogue of segregating candidate SNPs in 20 European local pig breeds that may be useful for traceability purposes, for association studies and for breeding schemes. Population genetic analyses based on these candidate genes are able to uncover some clues regarding the hidden genetic substructure of these populations, as the extreme genetic closeness between Iberian and Alentejana breeds and an uneven admixture of the breeds studied. The results are in agreement with available knowledge regarding breed history and management, although largest panels of neutral markers should be employed to get a deeper understanding of the population's structure and relationships.

Haemolytic anaemia secondary to arsenic poisoning: a case report.

We report the case of a 56-year-old white man who presented at the Emergency Department for evaluation of dark-red urine. Rapid development of acute renal failure and haemolytic anaemia initially elicited the hypothesis of a haemolytic-uremic syndrome. A previous exposure to a gas mixture containing arsenic and copper was later recognized as the probable aetiology while other differential diagnoses were excluded. Chelating treatment was promptly initiated before laboratorial confirmation of arsenic and copper poisoning. Renal and haematological recovery was gradually observed and the patient survived with no sequelae.

Prognosis of decompensated heart failure patients with preserved systolic function is predicted by NT-proBNP variations during hospitalization.

BACKGROUND: Almost half of heart failure (HF) patients have preserved left ventricular systolic function (LVSF). Although morbidity is similar in patients with preserved and depressed LVSF, clinicians have limited information on prognostic factors of patients with preserved LVSF. We aimed to evaluate the prognostic value of NT-proBNP in patients with decompensated HF regardless of LVSF. METHODS: Patients hospitalised due to decompensated HF were followed for 6 months. The primary endpoint was death or hospital readmission. We evaluated 224 patients with NT-proBNP measured at admission and discharge and an echocardiogram performed. NT-proBNP decreased on average during hospitalization in patients with preserved LVSF (n=63) and in patients with depressed LVSF (n=161). The morbidity was not different between patients with preserved and depressed LVSF. Among patients with preserved LVSF, predictors of adverse events were serum creatinine, haemoglobin, NT-proBNP levels at discharge and the variation in NT-proBNP during hospitalisation. Among patients with depressed LVSF, predictors of adverse events were female gender, atrial fibrillation, non-prescription of ACE-inhibitor at discharge, NT-proBNP levels at discharge and the variation in NT-proBNP during hospitalisation. CONCLUSIONS: These results suggest that, in HF patients with preserved LVSF as in patients with depressed LVSF, NT-proBNP can play a role as a tool to identify patients at risk of an adverse outcome.