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Heterodyne detection based on interband cascade lasers (ICL) has been demonstrated in a wide range of different applications. However, it is still often limited to bulky tabletop systems using individual components such as dual laser setups, beam shaping elements, and discrete detectors. In this work, a versatile integrated ICL platform is investigated for tackling this issue. A RF-optimized, two-section ICL approach is employed, consisting of a short section typically used for efficient modulation of the cavity field and a long gain section. Such a laser is operated in reversed mode, with the entire Fabry–Pérot waveguide utilized as a semiconductor optical amplifier (SOA) and the electrically separated short section as detector. Furthermore, a racetrack cavity is introduced as on-chip single-mode reference generator. The field of the racetrack cavity is coupled into the SOA waveguide via an 800 nm gap. By external injection of a single mode ICL operating at the appropriate wavelength, a heterodyne beating between the on-chip reference and the injected signal can be observed on the integrated detector section of the SOA-detector.

Applications of mode-locked fiber lasers benefit from robust and self-starting mode-locking, spectral tuning, high pulse energy and high average power. All-polarization-maintaining (PM) fiber lasers mode-locked with a phase-biased nonlinear amplifying loop mirror (NALM) have been shown to be very robust and reliably self-starting, and provide either spectral tuning or high pulse energy, but not both. We report on a simple method for concurrent spectral tuning and nanojoule-level pulse energy scaling of an all-PM phase-biased NALM mode-locked Yb:fiber laser, which we demonstrate over a 54 nm tuning range, reaching up to 1.67 nJ pulse energy and 126 mW average power. Unlike other laser configurations, our results show that net normal dispersion is not necessary or optimal for scaling the pulse energy of this type of mode-locked fiber laser.

In questo contributo si introduce un approccio temporale al diritto come potenzialmente innovativo per la teoria e la pratica giuridica. Si sostiene che un’analisi del rapporto tra diritto e tempo sia cruciale per attuare un decentramento del soggetto convenzionalmente inteso nel diritto moderno occidentale e per concepire strumenti giuridici in grado di riconoscere reti, legami e assemblaggi. L’attuale fase di cambiamento climatico e crisi ecologica viene interpretata come un contesto in cui è possibile ripensare le forme giuridiche fondamentali del diritto moderno, e del diritto privato in particolare, per consentire l’ingresso di temporalità non lineari e non umane nel pensiero e nella tecnica giuridica.

The architectural module has long been associated with the concept of measurement, where standardisation of the human body is used to define absolute modularity. With the awareness of human diversity, this narrow view of the module’s applicability is problematic, particularly in processes of environmental accessibility and inclusion. This paper critically explores the limits of the traditional measurement module, rethinking the concept of modularity to account for physical and perceptive diversity. By doing so, we aim to promote social inclusion and universal design in architectural projects for people. The paper concludes that the evolution of the concepts of the module and the human being requires a revision of their very meanings, calling for a more inclusive approach to design and planning in our contemporary world. Article info Received: 16/09/2023; Revised: 19/10/2023; Accepted: 30/10/2023

This article introduces a temporal approach to law as potentially innovative for socio-legal studies. It argues that bringing a focus on time into legal thought and practice is an important move for decentering the individual subject as conventionally conceived and for developing legal tools capable of recognising networks, ties and assemblages, and challenging the anthropocentric character of modern law. It frames climate change and the ecological crisis as a context for rethinking a number of fundamental legal forms, such as property and contract, as ways in which modern law can deal simultaneously with different temporalities – the present, an intergenerational time and a planetary time. Este artículo explora la relación entre derecho y tiempo en el contexto del cambio ecológico y climático. Sostiene que centrar la atención en el tiempo en el análisis y la práctica jurídicas es un paso importante para descentrar al sujeto individual tal y como se concibe convencionalmente y para desarrollar instrumentos jurídicos capaces de reconocer las redes, los ensamblajes y los colectivos, así como de cuestionar el carácter antropocéntrico del derecho moderno. Considera el cambio ecológico y climático como un contexto para repensar una serie de formas jurídicas fundamentales como formas mediante las cuales el derecho moderno puede tratar simultáneamente con diferentes temporalidades: el presente, un tiempo intergeneracional y un tiempo planetario.

There is a growing interest in the composition of amniotic fluid (AF) in both humans and animals. In addition to its nutritional and protective functions for the foetus, current knowledge demonstrates that AF also serves advanced diagnostic, prognostic, and therapeutic roles. Newborn dogs have an underdeveloped immune system, making them highly susceptible to dangerous pathogens such as canine parvovirus (CPV-2), canine infectious hepatitis virus (CAdV-1), and canine distemper virus (CDV), thus exposing them to a high risk of mortality in the first weeks of life. Immunoglobulins G (IgGs) represent the only antibody isotype capable of crossing the placenta in a small amount and have been detected also in canine AF. The primary aim of this study was to investigate the reliability of AF collected at birth as a marker of passive immunity in canine species. For this purpose, total and specific IgGs against CPV-2, CAdV-1, and CDV were investigated and quantified in both maternal plasma and AF collected at the time of caesarean section. The vaccination status of the bitches was also taken into consideration. Since the immune system can be influenced by gestational age, with preterm infants having immature innate and adaptive immunity, IgG concentrations were correlated with amniotic lecithin, sphingomyelin, cortisol, surfactant protein A, and pentraxin 3 levels. In a previous study from our group on foetal maturity these molecules were measured in the same samples. Finally, correlations between their amniotic content and neonatal outcomes were investigated. This study demonstrates that AF analysis at birth can provide valuable insights into neonatal immunity in puppies, offering a non-invasive method to detect potential early health risks, for improved puppy care and management.

Abstract Egyptian fruit bats have gained increasing interest being a natural reservoir for emerging zoonotic viruses. Anaesthesia is often required to allow safe handling of bats. We aimed to compare the sedative and cardiopulmonary effects of two balanced anaesthetic protocols in bats undergoing gonadectomy. Group DK (n = 10) received intramuscular dexmedetomidine (40 µg/kg) and ketamine (7 mg/kg), whereas group DBM (n = 10) received intramuscular dexmedetomidine (40 µg/kg), butorphanol (0.3 mg/kg) and midazolam (0.3 mg/kg). Induction time and cardiopulmonary parameters were recorded. If anaesthetic plan was inadequate, isoflurane was titrated-to-effect. At the end of surgery venous blood gas analysis was performed and atipamezole or atipamezole-flumazenil was administered for timed and scored recovery. In DBM group heart rate and peripheral oxygen saturation were significantly higher (p = 0.001; p = 0.003 respectively), while respiratory rate was significantly lower (p = 0.001). All bats required isoflurane supplementation with no significant differences between groups. Induction and recovery times showed no significant differences. In group DK a better recovery was scored (p = 0.034). Sodium and chloride were significantly higher in DBM group (p = 0.001; p = 0.002 respectively). Both anaesthetic protocols were comparable and can be recommended for minor procedures in bats.

Thiamine metabolism dysfunction syndrome-4 (THMD4) includes episodic encephalopathy, often associated with a febrile illness, causing transient neurologic dysfunction and a slowly progressive axonal polyneuropathy. Until now only two mutations (G125S and S194P) have been reported in the SLC25A19 gene as causative for this disease and a third mutation (G177A) as related to the Amish lethal microcephaly. In this work, we describe the clinical and molecular features of a patient carrying a novel mutation (c.576G>C; Q192H) on SLC25A19 gene. Functional studies on this mutation were performed explaining the pathogenetic role of c.576G>C in affecting the translational efficiency and/or stability of hMTPPT protein instead of the mRNA expression. These findings support the pathogenetic role of Q192H (c.576G>C) mutation on SLC25A19 gene. Moreover, despite in other patients the thiamine supplementation leaded to a substantial improvement of peripheral neuropathy, our patient did not show a clinical improvement.

Active and passive smoking in pregnant women is associated with perinatal morbidity and mortality risk, including abortion, preterm birth, low birthweight, and malformations. No data are available on intrauterine exposure to smoking during pregnancy in dogs. This study aimed to fill this gap by exploring the detectability and quantity of cotinine, the major metabolite of nicotine, in maternal (serum and hair) and newborn (amniotic fluid and hair) biospecimens collected at birth in dogs. For this purpose, twelve pregnant bitches, six exposed to the owner’s smoke and six unexposed, were enrolled. A further six non-pregnant bitches exposed to passive smoke were included to investigate the role of pregnancy status on cotinine uptake. Exposed dogs, dams, and puppies had greater cotinine concentrations than unexposed ones. Although without statistical significance, serum and hair cotinine concentrations were higher in pregnant compared to non-pregnant bitches, suggesting a different sensitivity to tobacco smoke exposure during gestation. The present results provide evidence for cotinine transplacental passage in the dog. It is conceivable that fragile patients such as pregnant, lactating, and neonate dogs may be more susceptible to the harmful effects of second-hand smoke exposure. Owners should be sensitized to the risk of smoke exposure for their pets.

The discovery of circulating fetal DNA in the plasma of pregnant women has greatly promoted advances in noninvasive prenatal testing. Screening performance is enhanced with higher fetal fraction and analysis of samples whose fetal DNA fraction is lower than 4% are unreliable. Although current approaches to fetal fraction measurement are accurate, most of them are expensive and time consuming. Here we present a simple and cost-effective solution that provides a quick and reasonably accurate fetal fraction by directly evaluating the size distribution of circulating DNA fragments in the extracted maternal cell-free DNA. The presented approach could be useful in the presequencing stage of noninvasive prenatal testing to evaluate whether the sample is suitable for the test or a repeat blood draw is recommended.

The studies that highlight the central role of consumption in the so called ‘postmodern’ society make evident the effect that the prevalence of new means of consumption have on the image of cities and their very structure. The spectacularization of merchandise and the transformation of purchasing into new forms of experience produce a kind of screaming architecture that trivializes the perception of the architectural space and has a profound impact on the city, its appearance, its functions, its mode of exploitation and its own meaning. Finally, a situation is envisaged concerning the effects of the recent acceleration of e-commerce which could lead to the aggravation of the solitary habits of the consumer, depriving him of what remains of sociability in current retail spaces.

Abstract Background Intrauterine fetal death (IUFD) is a tragic event and, despite efforts to reduce rates, its incidence remains difficult to reduce. The objective of the present study was to examine the etiological factors that contribute to the main causes and conditions associated with IUFD, over an 11-year period in a region of North-East Italy (Friuli Venezia Giulia) for which reliable data in available. Methods Retrospective analysis of all 278 IUFD cases occurred between 2005 and 2015 in pregnancies with gestational age ≥ 23 weeks. Results The incidence of IUFD was 2.8‰ live births. Of these, 30% were small for gestational age (SGA), with immigrant women being significantly over-represented. The share of SGA reached 35% in cases in which a maternal of fetal pathological condition was present, and dropped to 28% in the absence of associated pathology. In 78 pregnancies (28%) no pathology was recorded that could justify IUFD. Of all IUFDs, 11% occurred during labor, and 72% occurred at a gestational age above 30 weeks. Conclusion The percentage of IUFD cases for which no possible cause can be identified is quite high. Only the adoption of evidence-based diagnostic protocols, with integrated immunologic, genetic and pathologic examinations, can help reduce this diagnostic gap, contributing to the prevention of future IUFDs.

The adverse health effects of both active and passive tobacco smoke have been well-known in humans for a long time. It is presumable that even pets, which intimately share the owner’s lifestyle, may be exposed to the same risks. This study aimed to detect and quantify cotinine (a metabolite of nicotine) in the serum and hair of dogs using a specific commercial ELISA immunoassay kit. A total of 32 dogs, 16 exposed and 16 unexposed to the owner’s smoke, were enrolled. The cotinine concentration was higher in the exposed than the unexposed group in both matrices (p < 0.001), with greater values in serum than in hair (p < 0.001). Exposed bitches had higher hair cotinine than male dogs (p < 0.001). Conversely, serum and fur cotinine concentrations were lower in female than male dogs of the unexposed group (p < 0.01). The exposure intensity, age, and weight of the dogs did not affect cotinine concentrations. A cut-off value of 2.78 ng/mL and 1.13 ng/mL cotinine concentration in serum and fur, respectively, was estimated to distinguish between the exposed and unexposed dogs. Cotinine was confirmed as a valuable marker of passive smoking also in dogs. Although owners do not perceive secondhand smoke as a risk for their dogs, greater awareness should be advisable, especially in pregnant animals.

Scepticism towards law’s potential of fostering social change has been widespread in critical theory and contributed to strengthen social movements’ mistrust vis-à-vis the use of legal tools to advance their claims. Such “anti-law” posture is based on the assumption that law would formalise existing relations of domination and posits the need for a political praxis liberated from “legalistic drifts”. This article discusses how legal tactics in favour of social change have been employed by social movements exerting a counter-hegemonic use of law in the post-2008 economic crisis conjuncture. The example of the struggle for the commons will be analysed as paradigmatic of how the interests of the marginalised can be protected by resorting to existing property arrangements, and how it is possible to reclaim law from the margins. El escepticismo acerca del potencial que tiene la ley para fomentar el cambio social es general en la teoría crítica y contribuyó a fortalecer la desconfianza de los movimientos sociales respecto al uso de instrumentos legales para reivindicar sus reclamaciones. Esta postura “antilegal” se basa en la idea de que el derecho formalizaría las relaciones de dominación ya existentes; y afirma la necesidad de una práctica política libre de cualquier “deriva legalista”. Este artículo analiza cómo las tácticas legales a favor del cambio social han sido empleadas por movimientos que han ejercido un uso contrahegemónico del derecho en la coyuntura posterior a la crisis económica de 2008. El ejemplo de la lucha italiana por los bienes comunes se analizará como paradigmático de cómo se pueden proteger los intereses de los marginalizados recurriendo a las formas de propiedad existentes, y cómo es posible reivindicar el derecho desde los márgenes. Available from: https://doi.org/10.35295/osls.iisl/0000-0000-0000-1216

The knowledge about ovarian physiology in small ruminants is still limited, especially when compared to other domestic species. Ovarian function in goats is mainly assessed by ultrasonographic techniques, whereas a quali-quantitative feature of the follicular and luteal structures throughout the reproductive cycle in naturally cycling goats is scarce. This study provides a detailed description of the functional morphology and size of 742 ovarian structures (follicles, corpora hemorrhagica and corpora lutea) in relation to the oestrus phase, the body weight and the age of 25 Alpine goats (Capra hircus). The current study demonstrated that, the number and size of the follicles were related to the stage of the reproductive cycle (P < 0.0001). Also, the mean number of follicles was high during both prepubertal anestrus and diestrus, whereas it was low in the oestrus. Large (3-4 mm in diameter) and very large follicles (> 4 mm) (P < 0.001), and small follicles (< 2 mm; P < 0.05) varied throughout the reproductive cycle, while medium follicles (2-3 mm) were invariably observed. Large and very large follicles were predominant during the diestrus phase and small follicles in the prepubertal anestrus. It is evident from the current study that the number of follicles (P < 0.05) was significantly affected with both body weight and age. On the other hand, the size of follicles was significantly affected with body weight only (P < 0.0001). These results could contribute to a deeper understanding of ovarian transformations with important implications in assisted reproductive technologies, thereby concurring in advancing the efficiency of ultrasound in breeding programs for this species.

Abstract Background During 2015–2016 an outbreak of invasive meningococcal disease due to N. meningitidis serogroup C ST-11 (cc11) occurred in Tuscany, Italy. The outbreak affected mainly the age group 20–30 years, men who have sex with men, and the area located between the cities of Firenze, Prato and Empoli, with discos and gay-venues associated-clusters. A cross-sectional-survey was conducted to assess the prevalence and risk factors for meningococcal-carriage, in order to address public health interventions. Methods A convenience sample of people aged 11–45 years provided oropharyngeal swab specimens and completed questionnaires on risk factors for meningococcal carriage during a 3 months study-period, conducted either in the outbreak-area and in a control-area not affected by the outbreak (cities of Grosseto and Siena). Isolates were tested by culture plus polymerase chain reaction. Serogroup C meningococcal isolates were further characterized using multilocus sequence typing. Univariate and multivariate analyses were performed to estimate adjusted odds ratios (AORs) for meningococcal carriage. Results A total of 2285 oropharyngeal samples were collected. Overall, meningococcal carriage prevalence was 4.8% (n = 110), with nonencapsulated meningococci most prevalent (2.3%; n = 52). Among encapsulated meningococci, serogroup B was the most prevalent (1.8%; n = 41), followed by serogroup Y (0.5%; n = 11) and serogroup C (0.2%; n = 4); one carrier of serogroup E and one of serogroup Z, were also found (0.04%). Three individuals from the city of Empoli were found to carry the outbreak strain, C:ST-11 (cc11); this city also had the highest serogroup C carriage prevalence (0.5%). At the multivariate analyses, risk factors for meningococcal carriage were: illicit-drugs consumption (AOR 6.30; p

Neuroglial choristomas are rare malformations consisting of heterotopic mature neural tissue at a site isolated from the brain or spinal cord. In human medicine, neuroglial choristomas are predominantly reported in the head and in the neck, except for one recent case reported in a foot of a child. In domestic animals, neuroglial choristomas are exceedingly rare, reported only in the retina of a dog, in the pharynx and in the skin of two kittens, and within the oropharynx of a harbor seal. A three-year-old intact female Jack Russell Terrier presented for elective ovariectomy exhibited a cystic lesion 2 cm in diameter expanding in the right ovary. Histological examination of the lesion revealed a mass composed of well-organized neuroglial tissue. Immunohistochemistry with primary antibodies against GFAP, NSE, and IBA-1 confirmed the neuroglial origin of the mass. At the time of this writing, 7 years after ovariectomy, the dog was clinically normal. Together with a recent case described in the foot of a child, this case confirms that neuroglial choristoma may also be found far from the skull or spine, supporting the hypothesis that they may arise from an early embryological migration defect.

Immunocastration has been pointed out as an alternative to surgical castration; though, most of the scientific studies were performed in light pig production. This study aimed to evaluate the effect of immunocastration on animal welfare in heavy pig production through the evaluation of behaviour and body lesions. A total of 188 commercial-hybrid pigs were randomly allocated into two treatment groups: surgical castration (SC) and immunocastration with Improvac® (IC). Data on behaviour, body lesions, and salivary testosterone levels were collected the day before each vaccination at 15, 22, 32, and 36 weeks of age. IC and SC pigs were slaughtered at 40 and 41 weeks of age, respectively; productive and carcass traits data were also collected. Considering productive performance, our results confirmed that IC pigs grew faster and presented a higher weight at slaughter. A critical period for pig welfare was observed before 32 weeks: testosterone concentration and body lesion score were significantly higher in IC pigs compared to SC pigs; active behaviours were significantly more frequent in IC at 15 weeks. Immunocastration may represent a suitable alternative to surgical castration with profitable productive performances, whereas the impairment of welfare during the period before the effective vaccination should be further investigated as a potential critical aspect in heavy pig production.

This article explores the process by which the Digitally Encoded Census Information and Mapping Archive (DECIMA) endeavoured to create a complete interactive 3D urban map of sixteenth-century Florence. Originally, the project consisted of a projection of tax census data from 1551, 1561 and 1632 onto an axonometric visual map from our period of inquiry drawn by Stefano Buonsignori in 1584 georeferenced onto a contemporary map of the city. Transforming this into a threedimensional projection was a means to display census information with greater precision. However, this process was fraught with project accessibility and methodological considerations. DECIMA is first and foremost a web-based open access platform for research on the early modern city. Scaling the web application up to three- dimensions risked jeopardizing user accessibility. Finding sources to create a historical city proved difficult since much is known about major historical structures while the rest of the city’s minor architectural heritage remains elusive. To resolve these issues, DECIMA researchers opted for a recreation of the city designed to match the visuals of Buonsignori’s map, preserving the framework already utilized in the original project while making the finished product an optional feature for users to ensure accessibility was preserved. Utilizing urban digital design software City Engine, the existing geographic information system was scaled up into a 3D environment enhancing the precision of the data projection and offering opportunities for further technological enhancements to the web application for more in-depth research on Florence’s historic urban community.DOI: https://doi.org/10.20365/disegnarecon.21.2018.10

Stress exposure during perinatal period may lead to maternal cortisol increase that negatively affects the offspring development. In recent years, the interest on non-invasive sampling methods to measure cortisol as a marker of stress is increasing in both humans and animals. Indeed, discomfort due to blood collection may compromise the diagnostic outcome, mainly in uncooperative patients. So far, some alternative matrices but not milk have been explored in adult dogs, while no data are available on the neonate and paediatric live pups. This study aimed to measure cortisol concentration in different biological substrates in both dams (blood, saliva, hair and milk) and pups (saliva and hair) at established times from proestrus up to two months after parturition. For this purpose, five female German shepherd bitches and their 22 pups were enrolled. Cortisol concentration was assessed using the enzyme immunoassay kit (Salivary Cortisol ELISA kit, Salimetrics) after matrices appropriate preparation if required. Cortisol was measurable in all the substrates, except some milk samples below the detection limit. Maternal cortisol concentrations differed among the matrices (P

Abstract In 2014, the Italian Working Group for Infections in Critically Ill Patient of the Italian Association of Clinical Microbiologists updated the recommendations for the diagnostic workflow for bloodstream infections (BSI). Two years after publication, a nationwide survey was conducted to assess the compliance with the updated recommendations by clinical microbiology laboratories. A total of 168 microbiologists from 168 laboratories, serving 204 acute care hospitals and postacute care facilities, were interviewed during the period January–October 2016 using a questionnaire consisting of nineteen questions which assessed the level of adherence to various recommendations. The most critical issues were as follows: (a) The number of sets of blood cultures (BC) per 1,000 hospitalization days was acceptable in only 11% of laboratories; (b) the minority of laboratories (42%) was able to monitor whether BCs were over or under‐inoculated; (c) among the laboratories monitoring BC contamination (80%), the rate of contaminated samples was acceptable in only 12% of cases;(d) the Gram‐staining results were reported within 1 hr since BC positivity in less than 50% of laboratories. By contrast, most laboratories received vials within 2–4 hr from withdrawal (65%) and incubated vials as soon as they were received in the laboratory (95%). The study revealed that compliance with the recommendations is still partial. Further surveys will be needed to monitor the situation in the future.

Abstract Background Chromosomal microarray analysis (CMA) is nowadays widely used in the diagnostic path of patients with clinical phenotypes. However, there is no ascertained evidence to date on how to assemble single/combined clinical categories of developmental phenotypic findings to improve the array‐based detection rate. Methods The Italian Society of Human Genetics coordinated a retrospective study which included CMA results of 5,110 Italian patients referred to 17 genetics laboratories for variable combined clinical phenotypes. Results Non‐polymorphic copy number variants (CNVs) were identified in 1512 patients (30%) and 615 (32%) present in 552 patients (11%) were classified as pathogenic. CNVs were analysed according to type, size, inheritance pattern, distribution among chromosomes, and association to known syndromes. In addition, the evaluation of the detection rate of clinical subgroups of patients allowed to associate dysmorphisms and/or congenital malformations combined with any other single clinical sign to an increased detection rate, whereas non‐syndromic neurodevelopmental signs and non‐syndromic congenital malformations to a decreased detection rate. Conclusions Our retrospective study resulted in confirming the high detection rate of CMA and indicated new clinical markers useful to optimize their inclusion in the diagnostic and rehabilitative path of patients with developmental phenotypes.

The identification of multilocus imprinting disturbances (MLID) appears fundamental to uncover molecular pathways underlying imprinting disorders (IDs) and to complete clinical diagnosis of patients. However, MLID genetic associated mechanisms remain largely unknown. To characterize MLID in Beckwith-Wiedemann (BWS) and Silver-Russell (SRS) syndromes, we profiled by MassARRAY the methylation of 12 imprinted differentially methylated regions (iDMRs) in 21 BWS and 7 SRS patients with chromosome 11p15.5 epimutations. MLID was identified in 50% of BWS and 29% of SRS patients as a maternal hypomethylation syndrome. By next-generation sequencing, we searched for putative MLID-causative mutations in genes involved in methylation establishment/maintenance and found two novel missense mutations possibly causative of MLID: one in NLRP2, affecting ADP binding and protein activity, and one in ZFP42, likely leading to loss of DNA binding specificity. Both variants were paternally inherited. In silico protein modelling allowed to define the functional effect of these mutations. We found that MLID is very frequent in BWS/SRS. In addition, since MLID-BWS patients in our cohort show a peculiar pattern of BWS-associated clinical signs, MLID test could be important for a comprehensive clinical assessment. Finally, we highlighted the possible involvement of ZFP42 variants in MLID development and confirmed NLRP2 as causative locus in BWS-MLID.

Information-theoretic uncertainty relations formulate the joint immeasurability of two noncommuting observables in terms of information entropies. The tradeoff of the accuracy in the outcome of two successive measurements manifests in entropic noise-disturbance uncertainty relations. Recent theoretical analysis predicts that projective measurements are not optimal, with respect to the noise-disturbance tradeoffs. Therefore, the results in our previous paper [Phys. Rev. Lett. 115, 030401 (2015)PRLTAO0031-900710.1103/PhysRevLett.115.030401] are outperformed by general quantum measurements. Here, we experimentally test a tight information-theoretic measurement uncertainty relation for three-outcome positive-operator-valued measures, using neutron spin-1/2 qubits. The obtained results violate the lower bound for projective measurements as theoretically predicted.

Abstract Background DNA methylation is a frequently studied epigenetic modification due to its role in regulating gene expression and hence in biological processes and in determining phenotypic plasticity in organisms. Rudimentary DNA methylation patterns for some livestock species are publically available: among these, goat methylome deserves to be further explored. Results Genome-wide DNA methylation maps of the hypothalamus and ovary from Saanen goats were generated using Methyl-CpG binding domain protein sequencing (MBD-seq). Analysis of DNA methylation patterns indicate that the majority of methylation peaks found within genes are located gene body regions, for both organs. Analysis of the distribution of methylated sites per chromosome showed that chromosome X had the lowest number of methylation peaks. The X chromosome has one of the highest percentages of methylated CpG islands in both organs, and approximately 50% of the CpG islands in the goat epigenome are methylated in hypothalamus and ovary. Organ-specific Differentially Methylated Genes (DMGs) were correlated with the expression levels. Conclusions The comparison between transcriptome and methylome in hypothalamus and ovary showed that a higher level of methylation is not accompanied by a higher gene suppression. The genome-wide DNA methylation map for two goat organs produced here is a valuable starting point for studying the involvement of epigenetic modifications in regulating goat reproduction performance.

Abstract Background Neocentromeres are rare and considered chromosomal aberrations, because a non-centromeric region evolves in an active centromere by mutation. The literature reported several structural anomalies of X chromosome and they influence the female reproductive capacity or are associated to Turner syndrome in the presence of monosomy X cell line. Case presentation We report a case of chromosome X complex rearrangement found in a prenatal diagnosis. The fetal karyotype showed a mosaicism with a 45,X cell line and a 46 chromosomes second line with a big marker, instead of a sex chromosome. The marker morphology and fluorescence in situ hybridization (FISH) characterization allowed us to identify a tricentric X chromosome constituted by two complete X chromosome fused at the p arms telomere and an active neocentromere in the middle, at the union of the two Xp arms, where usually are the telomeric regions. FISH also showed the presence of a paracentric inversion of both Xp arms. Furthermore, fragility figures were found in 56% of metaphases from peripheral blood lymphocytes culture at birth: a shorter marker chromosome and an apparently acentric fragment frequently lost. Conclusions At our knowledge, this is the first isochromosome of an entire non-acrocentric chromosome. The neocentromere is constituted by canonical sequences but localized in an unusual position and the original centromeres are inactivated. We speculated that marker chromosome was the result of a double rearrangement: firstly, a paracentric inversion which involved the Xp arm, shifting a part of the centromere at the p end and subsequently a duplication of the entire X chromosome, which gave rise to an isochromosome. It is possible to suppose that the first event could be a result of a non-allelic homologous recombination mediated by inverted low-copy repeats. As expected, our case shows a Turner phenotype with mild facial features and no major skeletal deformity, normal psychomotor development and a spontaneous development of puberty and menarche, although with irregular menses since the last follow-up.

Abstract Background Cancer is the second cause of death in children and its diagnosis can be difficult, due to the presence of vague and non-specific symptoms. The primary care pediatrician is often involved in the diagnostic process, but no longer in child care once the treatment started. Care models involving both primary care pediatricians and oncologic referral centre highlighted a higher family satisfaction when they worked together. We conducted a survey on primary care pediatricians involved in childhood cancer in order to describe the actual situation. Methods We conducted a retrospective survey enrolling primary care pediatricians from a north-eastern area of Italy. They received a questionnaire that consisted in two parts: the first one aimed to assess the physician’s seniority and experience and the second one pertained to each case of cancer and explored the relationship between the pediatrician, the family and the referral centre, and pediatricians degree of satisfaction and emotional impact. Results We obtained data from 79 pediatricians who described 150 cancer cases. In 99 cases the primary care pediatrician had visited the child at the onset of symptoms and had referred him to the hospital. In 89 cases, he understood the severity of the disease. In 53.3% of cases the pediatrician was informed by the referral centre. The relationship between the pediatrician and child’s family improved in 38% of cases and this was related with their participation to the multidisciplinary meetings on child health. Conclusions Primary pediatricians’ sharing in the management of their patients with cancer was not satisfactory. Development of specific protocols targeted to an integrated care is needed to increase primary pediatricians’ involvement and families’ satisfactions.

This report shows for the first time clinical imaging (ultrasound and computed tomography), histological and immunohistochemical findings of an ovarian leiomyoma, coincidentally diagnosed in an asymptomatic unmated nulliparous ten year-old German shepherd bitch concurrently suffering from multiple mammary tumors. A thorough examination allowed the differentiation of ovarian leiomyoma from other spindle cell tumors. An accurate description of the diagnostic procedures useful in the managing of ovarian leiomyoma could provide valuable information to veterinary practitioners. Indeed, despite its rarity and nonspecific symptoms, ovarian leiomyoma may also affect the dog with an unknown potential risk.

Hereditary hearing loss (HHL) is a common disorder characterized by a huge genetic heterogeneity. The definition of a correct molecular diagnosis is essential for proper genetic counseling, recurrence risk estimation, and therapeutic options. From 20 to 40% of patients carry mutations in GJB2 gene, thus, in more than half of cases it is necessary to look for causative variants in the other genes so far identified (~100). In this light, the use of next-generation sequencing technologies has proved to be the best solution for mutational screening, even though it is not always conclusive. Here we describe a combined approach, based on targeted re-sequencing (TRS) of 96 HHL genes followed by high-density SNP arrays, aimed at the identification of the molecular causes of non-syndromic HHL (NSHL). This strategy has been applied to study 103 Italian unrelated cases, negative for mutations in GJB2, and led to the characterization of 31% of them (i.e., 37% of familial and 26.3% of sporadic cases). In particular, TRS revealed TECTA and ACTG1 genes as major players in the Italian population. Furthermore, two de novo missense variants in ACTG1 have been identified and investigated through protein modeling and molecular dynamics simulations, confirming their likely pathogenic effect. Among the selected patients analyzed by SNP arrays (negative to TRS, or with a single variant in a recessive gene) a molecular diagnosis was reached in ~36% of cases, highlighting the importance to look for large insertions/deletions. Moreover, copy number variants analysis led to the identification of the first case of uniparental disomy involving LOXHD1 gene. Overall, taking into account the contribution of GJB2, plus the results from TRS and SNP arrays, it was possible to reach a molecular diagnosis in ~51% of NSHL cases. These data proved the usefulness of a combined approach for the analysis of NSHL and for the definition of the epidemiological picture of HHL in the Italian population.

Due to the lack of unequivocal scientific evidence, gonadectomy’s effects on dogs’ behavior are still debated. Since veterinarians differ in their opinion, there may be considerable diversity in the advice received by owners. This study aimed to evaluate the effects of gonadectomy on dog behavior across time. Ninety-six dog owners (48 control dogs and 48 experimental dogs) were interviewed twice (T0 and T1, nine months later) to obtain information about their dog’s behavior. No change was found in the eating behavior or weight of dogs of both groups. Compared to T0, at T1, experimental dogs were reported to show less mounting behavior, pull on the leash, and roaming behaviors. Marking behavior did not vary across time for both groups of dogs. A tendency to reduce owner-directed aggression was observed at T1 for experimental male dogs, while no change was observed for male controls. The literature reports conflicting information about the effect of gonadectomy on behavior, suggesting that further studies about this topic should be undertaken.

Aim: To define the prognostic value of Doppler ultrasonographic morphology of ductus venosus (DV) waveform on canine neonatal mortality. Materials and Methods: Fifty-four healthy pregnant bitches underwent fetal ultrasonographic assessment. The DV waveforms were classified as diphasic (dDVw) or triphasic (tDVw) and compared with neonatal mortality. Results: Ninety-three fetuses were evaluated. Twenty fetuses belonged to litters with neonatal mortality, in which tDVw was observed. Seven fetuses belonged to litters without neonatal mortality, in which tDVw was observed. Fifty-eight fetuses belonged to litters without neonatal mortality, in which only dDVw was observed. Eight fetuses belonged to litters with neonatal mortality, in which only dDVw was observed. The correlation between tDVw and neonatal mortality was statistically significant (odds ratio [OR], 20.7; p

Uvod. Razvojni zaostanek in displastične znake ugotavljamo pri 1-3% otrok. Molekularne citogenetske tehnike z visoko ločljivostjo (CGH- in SNP-mikromreže) so v zadnjih letih postale ključna preiskava v rutinski klinični diagnostiki pri preiskovancih z razvojnim zaostankom, displastičnimi znaki in drugimi nepravilnostmi. Metode in rezultati. V prispevku želimo prikazati klinične prednosti molekularnega citogenetskega pristopa v diagnostičnem postopku dveh otrok z razvojnim zaostankom, displastičnimi znaki in drugimi nepravilnostmi. Potrditev kromosomske preureditve z metodo FISH je potrebna za opredelitev točne kromosomske lokacije in mehanizma nastanka kromosomske nepravilnosti. Zaključek. V prispevku predstavljamo dva tipa kromosomskih nepravilnosti, ki smo jih ugotovili in potrdili z različnimi molekularnimi metodami. Poudariti želimo pomen potrjevanja in analize pri starših za opredelitev izvora nastanka kromosomske preureditve. Rezultati genetske preiskave so ključni pri genetskem svetovanju prizadetim posameznikom in njihovim družinam.

Background and aims: Blood culture (BC) results are essential to guide antimicrobial chemotherapy for patients with sepsis. However, BC is a time-consuming exam, which can take several days. Reducing BCs turn around time (TAT) could impact on multiple outcome parameters and TAT monitoring is an important tool for measurement of microbiology laboratory performance. The aim of this study was to provide an overview of BC TATs among Italian microbiology laboratories. Materials and methods: Five laboratories collected and recorded, for a month period, date and time of the BC processing events. Cumulative TATs were analysed using the GraphPad software. Results: Participating laboratories reported data from 302 sepsis episodes. The median time from when the BC system produced a positive signal until Gram-stain results were reported was 7.6 hours. A rapid molecular identification and antimicrobial susceptibility testing (AST) was performed in 26.5% of BCs. Mean TAT for identification report was significantly lower when a molecular approach was adopted (12 vs. 28.7 hours, PConclusions: BC is a time-consuming exam, however, molecular identification and AST methods can drastically reduce time to results. The lack of difference between TATs observed for laboratories working 7 days/week and 6 days/week, coupled with a high rate of BCs turning positive during the night enable to conclude that the most urgent measure to reduce TATs is the expansion of laboratory regular duty hours.