Modelling the kinetics of milk emission during machine milking in dairy ewes

The individual milking time is one of the aspects which affect the routine of milking in dairy ewes and the time to devote to this laborious task. The positive effect of an appropriate udder conformation in the reduction of manual interventions (stripping) during milking, have been clarified by numerous studies (Marie-Etancelin et al., 2001), leading to the development of appraisal methods of the udder which are being implemented in several breeding programs to improve udder morphology for milkability. On the other hand, a lack of knowledge on kinetics of the milk emission during machine milking still persists, mainly as a consequence of the difficulty of a large scale recording. Recently an automatic device able to follow individual kinetics of milk emission, developed by INRA (Ricard et al., 1995), was installed at the IZCS. The first purpose of this work was modelling the average shape of milk emission curves during machine milking by fitting an appropriate polynomial. Furthermore, since previous analysis showed that milk flow parameters, such as maximum or average milk flow, manifested an individual variability (Carta et al., 2000), it was investigated whether this variability is also present in the shape of individual curves. With this goal a linear mixed model with random regression coefficients was implemented

Genetic diversity of Sardinian goat population based on microsatellites

During the last century, the selection for production traits of the main livestock species has led to a reduction in number of local populations with consequent loss of genetic variability. In Sardinia, the genetic improvement strategy has been based on selection for the local pure breed in sheep, whereas in the other species (cattle, swine and goat), an often unplanned crossbreeding with improved breeds has been applied. In this context, several studies on genetic diversity of these populations have been started with the final aim of recovering the autochthonous genetic types. The global approach involves different steps: - characterization of the farming system and typical products; - morphological and productive evaluation of the animals; - genetic characterization of the populations through molecular DNA analyses (microsatellites, AFLP, mitochondrial DNA, etc.); - creation of nucleus flocks in public farms and germoplasm banks; - organization of herd-books involving farmers interested in the safeguard of local breeds and valorisation of traditional products. A far as the goat population is concerned, Sardinia is the Italian region with the largest goat stock, (209.000 heads, about 23% of the total national stock). Farms are located in mountains, low hills and even plans (Macciotta et al., 2002) resulting in a quite large variability (Brandano and Piras, 1978) in terms of feeding and management techniques; but extensive and semi extensive systems in marginal areas prevail (Carta et al., 2001; Usai et al., 2004). The current population has been constituted by crossbreeding the autochthonous animals with other improved Mediterranean breeds,mainly Maltese goat. The aim of this paper is to study the genetic variability of this population through the analysis of 17 microsatellite markers

An overlook on the current registries for rare and complex connective tissue diseases and the future scenario of TogethERN ReCONNET

European Reference Networks; Rare and complex connective tissue diseases; RegistriesRedes Europeas de Referencia; Enfermedades raras y complejas del tejido conjuntivo; RegistrosXarxes de referència europees; Malalties rares i complexes del teixit conjuntiu; RegistresBackground: Patient registries play a crucial role in supporting clinical practice, healthcare planning and medical research, offering a real-world picture on rare and complex connective tissue diseases (rCTDs). ERN ReCONNET launched the first European Registry Infrastructure with the aim to plan, upgrade and link registries for rCTDs, with the final goal to promote a harmonized data collection approach all over Europe for rCTDs. Methods: An online survey addressed to healthcare professionals and patients' representatives active in the field of rCTDs was integrated by an extensive database search in order to build a mapping of existing registries for rCTDs. Findings: A total of 140 registries were found, 38 of which include multiple diseases. No disease-specific registry was identified for relapsing polychondritis, mixed connective tissue disease and undifferentiated connective tissue disease. Discussion: This overview on the existing registries for rCTDs provides a useful starting point to identify the gaps and the strengths of registries on the coverage of rCTDs, and to develop a common data set and data collection approach for the establishment of the TogethERN ReCONNET Infrastructure.This work was funded by the European Union's Health Program (2014–2020). ERN ReCONNET is one of the 24 European Reference Networks (ERNs) approved by the ERN Board of Member States. The ERNs are co-funded by the EC (European Commission) (grant no. 947700)

Congenital remnants as a cause of neonatal respiratory impairment

Neonatal respiratory distress is a potentially life-threatening condition, representing a diagnostic and therapeutic challenge for physicians, especially when it is caused by rare pathologies. Head and neck remnants are benign congenital neoplasms rarely observed in newborns. Teratoma is the most common congenital tumor in childhood, while head and neck epithelial and mesenchymal hamartomas are uncommon. We report three cases of pharyngeal congenital remnants presenting with neonatal airway obstruction. We observed a 9-month-old, 35-day-old, and 15-hour-old patients, who have been referred to our Department of Otorhinolaryngology with acute airway distress. All the patients showed a pharyngeal benign lesion, since teratomas originated from the left lateral wall of the pharynx in two cases and one “fibrovascular” hamartoma originated from the base of the tongue. Timely surgical excision through transoral CO2 laser microsurgery was curative in all the cases. Dyspnoea in newborns is a challenging condition and must be managed, when possible, by a well-trained paediatric team. When clinicians face obstructive airway congenital remnants, a timely and radical surgical excision is necessary to avoid potentially lethal asphyxia

IGHV mutational status of nodal marginal zone lymphoma by NGS reveals distinct pathogenic pathways with different prognostic implications

The precise B cell of origin and molecular pathogenesis of nodal marginal zone lymphoma (NMZL) remain poorly defined. To date, due to the rarity of NMZL, the vast majority of already-published studies have been conducted on a limited number of samples and the technical approach to analyze the immunoglobulin genes was of amplifying rearranged variable region genes with the classical direct sequencing of the PCR products followed by cloning. Here, we studied the B cell Ig heavy-chain repertoires by next-generation sequencing (NGS) in 30 NMZL cases. Most of the cases were mutated (20/28; 71.5%) with homologies to the respective germ line genes ranging from 85 to 97, 83%, whereas 8/28 (28.5%) were unmutated. In addition, our results show that NMZL cases have a biased usage of specific immunoglobulin heavy-chain variable (IGHV) region genes. Moreover, we documented intraclonal diversity in all (100%) of the mutated cases and ongoing somatic hypermutations (SHM) have been confirmed by hundreds of reads. We analyzed the mutational pattern to detect and quantify antigen selection pressure and we found a positive selection in 4 cases, whereas in the remaining cases there was an unspecific stimulation. Finally, the disease-specific survival and the progression-free survival were significantly different between cases with mutated and unmutated IGHV genes, pointing out mutational status as a possible new biomarker in NMZL

Dietary triacylglycerols with palmitic acid in the sn-2 position modulate levels of N-acylethanolamides in rat tissues

BACKGROUND: Several evidences suggest that the position of palmitic acid (PA) in dietary triacylglycerol (TAG) influences different biological functions. We aimed at evaluating whether dietary fat with highly enriched (87%) PA in sn-2 position (Hsn-2 PA), by increasing PA incorporation into tissue phospholipids (PL), modifies fatty acid profile and biosynthesis of fatty acid-derived bioactive lipids, such as endocannabinoids and their congeners. STUDY DESIGN: Rats were fed for 5 weeks diets containing Hsn-2 PA or fat with PA randomly distributed in TAG with 18.8% PA in sn-2 position (Lsn-2 PA), and similar total PA concentration. Fatty acid profile in different lipid fractions, endocannabinoids and congeners were measured in intestine, liver, visceral adipose tissue, muscle and brain. RESULTS: Rats on Hsn-2 PA diet had lower levels of anandamide with concomitant increase of its congener palmitoylethanolamide and its precursor PA into visceral adipose tissue phospholipids. In addition, we found an increase of oleoylethanolamide, an avid PPAR alpha ligand, in liver, muscle and brain, associated to higher levels of its precursor oleic acid in liver and muscle, probably derived by elongation and further delta 9 desaturation of PA. Changes in endocannabinoids and congeners were associated to a decrease of circulating TNF alpha after LPS challenge, and to an improved feed efficiency. CONCLUSIONS: Dietary Hsn-2 PA, by modifying endocannabinoids and congeners biosynthesis in different tissues may potentially concur in the physiological regulation of energy metabolism, brain function and body fat distribution

Usefulness of salivary sampling for the molecular detection of a genetic variant associated with bipolar disorders

Under certain conditions, the hyperthymic temperament traits associated with an increased risk of developing bipolar disorders may in fact produce adaptive responses. The purpose of this study is to see if the type of biological material used for genetic analysis (saliva or blood) affects the detection of mutations in the CACNA1C (RS1006737) gene. The first experimental group consisted of Sardinian migrants (“volunteers”) in South American and European megacities. The second experimental group consisted of older healthy subjects with hyperactivity and novelty-seeking characteristics from Cagliari, Italy. The genetic procedure included DNA extraction, real-time PCR, and the Sanger method. Nonetheless, the authors believe that saliva is the most appropriate biological material, given its many advantages. In contrast to blood, saliva can be collected by any type of healthcare provider after following a few simple instructions