1,202 research outputs found

    Magnetic Resonance Imaging-Guided Focused Ultrasound Surgery for the Treatment of Symptomatic Uterine Fibroids

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    Uterine broids, the most common benign tumor in women of childbearing age, may cause symptoms including pelvic pain, menorrhagia, dysmenorrhea, pressure, urinary symptoms, and infertility. Various approaches are available to treat symptomatic uterine broids. Magnetic Resonance-guided Focused Ultrasound Surgery (MRgFUS) represents a recently introduced noninvasive safe and e ective technique that can be performed without general anesthesia, in an outpatient setting. We review the principles of MRgFUS, describing patient selection criteria for the treatments performed at our center and we present a series of ve selected patients with symptomatic uterine broids treated with this not yet widely known technique, showing its e cacy in symptom improvement and broid volume reduction

    Respondents of health survey powered by the innovative NURO app exhibit correlations between exercise frequencies and diet habits, and between stress levels and sleep wellness

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    Nurosene's NURO app (nurosene.com) is an innovative smartphone application that gathers and analyzes active self-report metrics from users, empowering them with data-driven health machine intelligence. We present the data collected and analyzed from the initial round of participants who responded to a 12-question survey on their life-style and health status. Exploratory results using a variational autoencoder (VAE) suggested that much of the variability of the 12 dimensional data could be accounted for by two approximately uncorrelated latent variables: one pertaining to stress and sleep, and the other pertaining to exercise and diet. Subsequent modeling of the data using exploratory and confirmatory factor analyses (EFAs and CFAs) found that optimal data fits consisted of four factors, namely exercise, diet, stress, and sleep. Covariance values were high between exercise and diet, and between stress and sleep, but much lower between other pairings of non-identical factors. Both EFAs and CFAs provided extra contexts to and quantified the more preliminary VAE observations. Overall, our results significantly reduce the apparent complexity of the response data. This reduction allows for more efficient future stratification and analyses of participants based on simpler latent variables. Our discovery of novel relationships between stress and sleep, and between exercise and diet suggests the possibility of applying predictive analytics in future efforts

    Whole genome semiconductor based sequencing of farmed European sea bass (Dicentrarchus labrax) Mediterranean genetic stocks using a DNA pooling approach

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    European sea bass (Dicentrarchus labrax) is an important marine species for commercial and sport fisheries and aquaculture production. Recently, the European sea bass genome has been sequenced and assembled. This resource can open new opportunities to evaluate and monitor variability and identify variants that could contribute to the adaptation to farming conditions. In this work, two DNA pools constructed from cultivated European sea bass were sequenced using a next generation semiconductor sequencing approach based on Ion Proton sequencer. Using the first draft version of the D. labrax genome as reference, sequenced reads obtained a total of about 1.6 million of single nucleotide polymorphisms (SNPs), spread all over the chromosomes. Transition/transversion (Ti/Tv) was equal to 1.28, comparable to what was already reported in Salmon species. A pilot homozygosity analysis across the D. labrax genome using DNA pool sequence datasets indicated that this approach can identify chromosome regions with putative signatures of selection, including genes involved in ion transport and chloride channel functions, amino acid metabolism and circadian clock and related neurological systems. This is the first study that reported genome wide polymorphisms in a fish species obtained with the Ion Proton sequencer. Moreover, this study provided a methodological approach for selective sweep analysis in this species

    Associations between children’s behavioural and emotional development and objectively measured physical activity and sedentary time: Findings from the UK Millennium Cohort Study

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    Physical activity (PA) can have a positive influence on mental health. Less is known about the influence of mental health on recent and later PA and sedentariness in childhood. This study investigated cross-sectional and distal associations between behavioural and emotional development, and objectively-measured moderate-to-vigorous PA (MVPA) and sedentary time, in seven-year-old children participating in the Millennium Cohort Study (n = 6497). Markers of behavioural/emotional development (scores for total difficulties, internalising and externalising problems) were obtained using the Strengths and Difficulties Questionnaire at ages three, five and seven years. Associations between sedentary time or MVPA (outcomes) and behavioural/emotional development (exposures) were analysed using median regressions, stratified by sex. In cross-sectional analyses, boys’ sedentary time decreased with higher total difficulties scores (-1.1 minutes/day per score unit), boys’ and girls’ sedentary time decreased with higher externalising scores (-2.3 minutes/day per unit), and girls with higher internalising scores were more sedentary (1.4 minutes/day per unit). In analyses of MVPA, boys and girls were marginally more active with higher externalising scores (0.4 and 0.5 minutes/day per unit), and boys were less active for higher internalising scores (-0.7 minutes/day per unit). Distal associations showed similar patterns: children with increasing total difficulty and externalising scores at all ages were less sedentary at age seven; girls with increasing internalising scores more so. Boys and girls with increasing externalising scores were more active at age seven, whilst increasing internalising problems reduced MVPA for boys. In conclusion, behavioural behavioural/emotional development is associated with mid-childhood sedentary time and, more weakly, MVP

    Taking advantage from phenotype variability in a local animal genetic resource: identification of genomic regions associated with the hairless phenotype in Casertana pigs

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    Casertana is an endangered autochthonous pig breed (raised in south-central Italy) that is considered to be the descendant of the influential Neapolitan pig population that was used to improve British breeds in the 19th century. Casertana pigs are characterized by a typical, almost complete, hairless phenotype, even though a few Casertana pigs are normal haired. In this work, using Illumina PorcineSNP60 BeadChip data, we carried out a genome-wide association study and an FST analysis with this breed by comparing animals showing the classical hairless phenotype (n\ua0=\ua081) versus pigs classified as haired (n\ua0=\ua015). Combining the results obtained with the two approaches, we identified two significant regions: one on porcine chromosome (SSC) 7 and one on SSC15. The SSC7 region contains the forkhead box N3 (FOXN3) gene, the most plausible candidate gene of this region, considering that mutations in another gene of the same family (forkhead box N1; Foxn1 or FOXN1) are responsible for the nude locus in rodents and alopecia in humans. Another potential candidate gene, rho guanine nucleotide exchange factor 10 (ARHGEF10), is located in the SSC15 region. FOXN3 and ARHGEF10 have been detected as differentially expressed in androgenetic and senescent alopecia respectively. This study on an autochthonous pig breed contributes to shed some light on novel genes potentially involved in hair development and growth and demonstrates that local animal breeds can be valuable genetic resources for disclosing genetic factors affecting unique traits, taking advantage of phenotype variability segregating in small populations

    Taking advantage from phenotype variability in a local animal genetic resource: identification of genomic regions associated with the hairless phenotype in Casertana pigs

    Get PDF
    Casertana is an endangered autochthonous pig breed (raised in south-central Italy) that is considered to be the descendant of the influential Neapolitan pig population that was used to improve British breeds in the 19th century. Casertana pigs are characterized by a typical, almost complete, hairless phenotype, even though a few Casertana pigs are normal haired. In this work, using Illumina PorcineSNP60 BeadChip data, we carried out a genome-wide association study and an FST analysis with this breed by comparing animals showing the classical hairless phenotype (n = 81) versus pigs classified as haired (n = 15). Combining the results obtained with the two approaches, we identified two significant regions: one on porcine chromosome (SSC) 7 and one on SSC15. The SSC7 region contains the forkhead box N3 (FOXN3) gene, the most plausible candidate gene of this region, considering that mutations in another gene of the same family (forkhead box N1; Foxn1 or FOXN1) are responsible for the nude locus in rodents and alopecia in humans. Another potential candidate gene, rho guanine nucleotide exchange factor 10 (ARHGEF10), is located in the SSC15 region. FOXN3 and ARHGEF10 have been detected as differentially expressed in androgenetic and senescent alopecia respectively. This study on an autochthonous pig breed contributes to shed some light on novel genes potentially involved in hair development and growth and demonstrates that local animal breeds can be valuable genetic resources for disclosing genetic factors affecting unique traits, taking advantage of phenotype variability segregating in small populations

    Malignancy course of pituitary adenoma in MEN1 syndrome: Clinical-Neuroradiological signs

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    Pituitary carcinomas (PCa) are extremely rare, indistinguishable from pituitary adenomas on histopathological grounds and have a poor prognosis. Most PCa start as PRL or ACTH secreting tumors in males, with relapsing invasive behaviour, refractoriness to medical and radiotherapy and increasing hormonal levels. The presence of distant metastases is still required for the diagnosis of PCa. The association with genetic endocrine diseases must be taken into account, since it adds further risk of evolution towards malignancy. Intradural spinal metastases have also been reported, so a complete craniospinal MR evaluation is recommended, when clinically indicated. We report a case of PCa, associated with MEN1 syndrome, with evidence of meningeal spread to the tentorium cerebelli, clival dura and spinal drop metastases mimicking spinal nerves schwannomas

    Successful control of an outbreak of colonization by Klebsiella pneumoniae carbapenemase-producing K.\ua0pneumoniae sequence type 258 in a neonatal intensive care unit, Italy

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    This article reports an outbreak of colonization by Klebsiella pneumoniae carbapenemase-producing K. pneumoniae (KPC-Kp) sequence type (ST) 258 in a neonatal intensive care unit (NICU) in Palermo, Italy. KPC-Kp ST258 was detected by an active surveillance culture programme. Between 18th September and 14th November 2012, KPC-Kp was isolated from 10 out of 54 neonates admitted in the outbreak period. No cases of infection were recorded. Male sex was associated with colonization, whereas administration of ampicilline-sulbactam plus gentamicin was protective. Infection control interventions interrupted the spread of KPC-Kp without the need to close the NICU to new admissions. (C) 2013 The Healthcare Infection Society. Published by Elsevier Ltd. All rights reserved

    Use of Cepheid Xpert Carba-R\uae for Rapid Detection of Carbapenemase-Producing Bacteria in Abdominal Septic Patients Admitted to Intensive Care Unit.

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    Abstract Early institution of effective antibiotic therapy and source control are pivotal to improve survival of abdominal septic patients. Xpert\uae Carba-R is a real time polymerase chain reaction assay for rapid detection and differentiation of five genes (blaKPC, blaVIM, blaOXA-48, blaIMP-1, blaNDM) responsible for carbapenem resistance. We performed an observational study investigating the clinical usefulness and applicability of Xpert\uae Carba-R to detect carbapenem resistance in abdominal septic patients admitted to intensive care unit. We compared the results of Xpert\uae Carba-R with standard microbiological culture. We collected a set of two rectal/stomia swabs and two swabs from abdominal drainage fluid for each patient. We included 20 patients for a total of 45 comparisons between the two methods. In our clinical setting, the overall performance of Xpert\uae Carba-R for detection of carbapenem resistance in the presence of genes detectable and non-detectable by the method was: sensitivity 50% (95% CI 24.6-75.3); specificity 93.1% (95% CI 77.2-99.1); positive predictive value (PPV) 80% (95% CI 44.4-97.5); negative predictive value (NPV) 77.1% (95% CI 56.9-89.6). The inter-rater agreement was 0.47 (SE 0.14; 95% CI 0.20-0.74). When considering the only 5 mechanisms of resistance detected by both methods, the overall diagnostic performance was: sensitivity 100% (95% CI 69.1-100), specificity 94.2 (95% CI 80.8-99.3), PPV 83.3 (95% CI 59.6-97.9) and NPV 100% (95% CI 89.4-100). The inter-rater agreement was 0.88 (SE 0.08; 95% CI 0.71-1). Xpert\uae Carba-R may be considered an additional diagnostic tool for early diagnosis of carbapenem resistance in abdominal septic patients. Clinicians should be aware of their epidemiology before its introduction in the diagnostic protocol of their intensive care units

    The burden of Candida species colonization in NICU patients: a colonization surveillance study

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    Fungal infections are an important cause of morbidity and mortality in neonatal intensive care units (NICUs). The identification of specific risk factors supports prevention of candidemia in neonates. Effective prophylactic strategies have recently become available, but the identification and adequate management of high-risk infants is still a priority. Prior colonization is a key risk factor for candidemia. For this reason, surveillance studies to monitor incidence, species distribution, and antifungal susceptibility profiles, are mandatory. Among 520 infants admitted to our NICU between January 2013 and December 2014, 472 (90.77%) were included in the study. Forty-eight out of 472 (10.17%) patients tested positive for Candida spp. (C.), at least on one occasion. All the colonized patients tested positive for the rectal swab, whereas 7 patients also tested positive for the nasal swab. Fifteen out of 472 patients (3.18%) had more than one positive rectal or nasal swab during their NICU stay. Moreover, 9 out of 15 patients tested negative at the first sampling, suggesting they acquired Candida spp. during their stay. Twenty-five of forty-eight (52.1%) colonized patients carried C.albicans and 15/48 (31.25%) C.parapsilosis. We identified as risk factors for Candida spp. colonization: antibiotic therapy, parenteral nutrition, the use of a central venous catheter, and nasogastric tube. Our experience suggests that effective microbiological surveillance can allow for implementing proper, effective and timely control measures in a highrisk setting
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