409 research outputs found

    Hyalinizing trabecular tumour of the thyroid: fine-needle aspiration cytological diagnosis and correlation with histology.

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    Hyalinizing trabecular tumour (HTT) is a rare thyroid neoplasm of follicular cell origin characterised by a trabecular growth pattern and prominent intratrabecular and intertrabecular hyalinisation. These peculiar histological features allow the prompt recognition of this neoplasm in surgical specimens. However, cytological diagnosis of HTT remains elusive and misleading because of overlapping characteristics with other thyroid tumours, particularly papillary thyroid carcinoma (PTC), medullary thyroid carcinoma (MTC) and the newly described non-invasive follicular thyroid neoplasm with papillary-like nuclear features (NIFTP). Nevertheless, the proper recognition of this neoplasm on preoperative cytological preparations is important to avoid unnecessary overtreatment of this indolent lesion. A thorough review of the literature has revealed that the correct diagnosis of HTT in cytological smears is achieved in only 8% of cases. In a further 6% of cases, diagnostic doubt has been indicated. Sixty percent of published cases of HTT have been misdiagnosed as suggestive, suspicious or positive for PTC. These findings underline the difficulties of a cytological-based diagnosis of such entity. In this article we review the cytomorphological features of HTT and their correlation to histological features to provide the reader with the tools to improve diagnostic performance in the identification of HTT on preoperative cytology

    SARS-COV-2 comorbidity network and outcome in hospitalized patients in Crema, Italy

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    We report onset, course, correlations with comorbidities, and diagnostic accuracy of nasopharyngeal swab in 539 individuals suspected to carry SARS-COV-2 admitted to the hospital of Crema, Italy. All individuals underwent clinical and laboratory exams, SARS-COV-2 reverse transcriptase-polymerase chain reaction on nasopharyngeal swab, and chest X-ray and/or computed tomography (CT). Data on onset, course, comorbidities, number of drugs including angiotensin converting enzyme (ACE) inhibitors and angiotensin-II-receptor antagonists (sartans), follow-up swab, pharmacological treatments, non-invasive respiratory support, ICU admission, and deaths were recorded. Among 411 SARS-COV-2 patients (67.7% males) median age was 70.8 years (range 5-99). Chest CT was performed in 317 (77.2%) and showed interstitial pneumonia in 304 (96%). Fatality rate was 17.5% (74% males), with 6.6% in 60-69 years old, 21.1% in 70-79 years old, 38.8% in 80-89 years old, and 83.3% above 90 years. No death occurred below 60 years. Non-invasive respiratory support rate was 27.2% and ICU admission 6.8%. Charlson comorbidity index and high Creactive protein at admission were significantly associated with death. Use of ACE inhibitors or sartans was not associated with outcomes. Among 128 swab negative patients at admission (63.3% males) median age was 67.7 years (range 1-98). Chest CT was performed in 87 (68%) and showed interstitial pneumonia in 76 (87.3%). Follow-up swab turned positive in 13 of 32 patients. Using chest CT at admission as gold standard on the entire study population of 539 patients, nasopharyngeal swab had 80% accuracy. Comorbidity network analysis revealed a more homogenous distribution 60-40 aged SARS-COV-2 patients across diseases and a crucial different interplay of diseases in the networks of deceased and survived patients. SARS-CoV-2 caused high mortality among patients older than 60 years and correlated with pre-existing multiorgan impairment. Copyright

    Electromagnetic response functions of few-nucleon systems

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    Inclusive electromagnetic reactions in few-nucleon systems are studied basing on accurate three- and four-body calculations. The longitudinal 4He(e,e') response function obtained at q\le 600 MeV/c completely agrees with experiment. The exact 4He spectral function obtained in a semirealistic potential model is presented, and the accuracy of the quasielastic response calculated with its help is assessed, as well as the accuracy of some simpler approximations for the response. The photodisintegration cross section of 3He obtained with the realistic AV14 NN force plus UrbanaVIII NNN force agrees with experiment. It is shown that this cross section is very sensitive to underlying nuclear dynamics in the E_\gamma\simeq 70-100 MeV region. In particular, the NNN nuclear force clearly manifests itself in this region.Comment: 10 pages, Latex, style file is included, 7 ps figures, to appear in Proc. of the 2nd Int. Conf. on Perspectives in Hadronic Physics, ITCP, Triest, May 1999, World Sci., Singapor

    Optimized testing strategy for the diagnosis of GAA-FGF14 ataxia/spinocerebellar ataxia 27B

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    Dominantly inherited GAA repeat expansions in FGF14 are a common cause of spinocerebellar ataxia (GAA-FGF14 ataxia; spinocerebellar ataxia 27B). Molecular confirmation of FGF14 GAA repeat expansions has thus far mostly relied on long-read sequencing, a technology that is not yet widely available in clinical laboratories. We developed and validated a strategy to detect FGF14 GAA repeat expansions using long-range PCR, bidirectional repeat-primed PCRs, and Sanger sequencing. We compared this strategy to targeted nanopore sequencing in a cohort of 22 French Canadian patients and next validated it in a cohort of 53 French index patients with unsolved ataxia. Method comparison showed that capillary electrophoresis of long-range PCR amplification products significantly underestimated expansion sizes compared to nanopore sequencing (slope, 0.87 [95% CI, 0.81 to 0.93]; intercept, 14.58 [95% CI, − 2.48 to 31.12]) and gel electrophoresis (slope, 0.84 [95% CI, 0.78 to 0.97]; intercept, 21.34 [95% CI, − 27.66 to 40.22]). The latter techniques yielded similar size estimates. Following calibration with internal controls, expansion size estimates were similar between capillary electrophoresis and nanopore sequencing (slope: 0.98 [95% CI, 0.92 to 1.04]; intercept: 10.62 [95% CI, − 7.49 to 27.71]), and gel electrophoresis (slope: 0.94 [95% CI, 0.88 to 1.09]; intercept: 18.81 [95% CI, − 41.93 to 39.15]). Diagnosis was accurately confirmed for all 22 French Canadian patients using this strategy. We also identified 9 French patients (9/53; 17%) and 2 of their relatives who carried an FGF14 (GAA)≄250 expansion. This novel strategy reliably detected and sized FGF14 GAA expansions, and compared favorably to long-read sequencing

    HUWE1 E3 ligase promotes PINK1/PARKINindependent mitophagy by regulating AMBRA1 activation via IKKa

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    The selective removal of undesired or damaged mitochondria by autophagy, known as mitophagy, is crucial for cellular homoeostasis, and prevents tumour diffusion, neurodegeneration and ageing. The pro-autophagic molecule AMBRA1 (autophagy/beclin-1 regulator-1) has been defined as a novel regulator of mitophagy in both PINK1/PARKIN-dependent and -independent systems. Here, we identified the E3 ubiquitin ligase HUWE1 as a key inducing factor in AMBRA1-mediated mitophagy, a process that takes place independently of the main mitophagy receptors. Furthermore, we show that mitophagy function of AMBRA1 is post-translationally controlled, upon HUWE1 activity, by a positive phosphorylation on its serine 1014. This modification is mediated by the IKKα kinase and induces structural changes in AMBRA1, thus promoting its interaction with LC3/GABARAP (mATG8) proteins and its mitophagic activity. Altogether, these results demonstrate that AMBRA1 regulates mitophagy through a novel pathway, in which HUWE1 and IKKα are key factors, shedding new lights on the regulation of mitochondrial quality control and homoeostasis in mammalian cells

    Urban biodiversity : State of the science and future directions

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    Since the 1990s, recognition of urban biodiversity research has increased steadily. Knowledge of how ecological communities respond to urban pressures can assist in addressing global questions related to biodiversity. To assess the state of this research field in meeting this aim, we conducted a systematic review of the urban biodiversity literature published since 1990. We obtained data from 1209 studies that sampled ecological communities representing 12 taxonomic groups. While advances have been made in the field over the last 30 years, we found that urban biodiversity research has primarily been conducted in single cities within the Palearctic and Nearctic realms, within forest remnants and residential locations, and predominantly surveys plants and birds, with significant gaps in research within the Global South and little integration of multi-species and multi-trophic interactions. Sample sizes remain limited in spatial and temporal scope, but citizen science and remote sensing resources have broadened these efforts. Analytical approaches still rely on taxonomic diversity to describe urban plant and animal communities, with increasing numbers of integrated phylogenetic and trait-based analyses. Despite the implementation of nature-based solutions across the world's cities, only 5% of studies link biodiversity to ecosystem function and services, pointing to substantial gaps in our understanding of such solutions. We advocate for future research that encompasses a greater diversity of taxonomic groups and urban systems, focusing on biodiversity hotspots. Implementing such research would enable researchers to move forward in an equitable and multidisciplinary way to tackle the complex issues facing global urban biodiversity.Peer reviewe

    4H Leukodystrophy: A Brain Magnetic Resonance Imaging Scoring System

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    4H (hypomyelination, hypodontia and hypogonadotropic hypogonadism) leukodystrophy (4H) is an autosomal recessive hypomyelinating white matter (WM) disorder with neurologic, dental, and endocrine abnormalities. The aim of this study was to develop and validate a magnetic resonance imaging (MRI) scoring system for 4H. A scoring system (0-54) was developed to quantify hypomyelination and atrophy of different brain regions. Pons diameter and bicaudate ratio were included as measures of cerebral and brainstem atrophy, and reference values were determined using controls. Five independent raters completed the scoring system in 40 brain MRI scans collected from 36 patients with genetically proven 4H. Interrater reliability (IRR) and correlations between MRI scores, age, gross motor function, gender, and mutated gene were assessed. IRR for total MRI severity was found to be excellent (intraclass correlation coefficient: 0.87; 95% confidence interval: 0.80-0.92) but varied between different items with some (e.g., myelination of the cerebellar WM) showing poor IRR. Atrophy increased with age in contrast to hypomyelination scores. MRI scores (global, hypomyelination, and atrophy scores) significantly correlated with clinical handicap (p < 0.01 for all three items) and differed between the different genotypes. Our 4H MRI scoring system reliably quantifies hypomyelination and atrophy in patients with 4H, and MRI scores reflect clinical disease severity

    Palynological and chemical volatile components of tipically autumnal honeys of the western Mediterranean

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    [EN] Twenty-five samples of autumnal honeys from the western Mediterranean (Mallorca and Eivissa, Balearic Islands) were examined for pollen content (qualitative and quantitative melissopalynological analysis), moisture, electrical conductivity, colour, sensorial qualities and volatile components. Quantitative analysis showed that the honey contained Maurizio's Class II: 64%, Class III: 28%, Class IV: 4% and Class V: 4%. Fifty-four pollen types, with an average number of 16.68 per sample, were identified, belonging to 29 botanical families. Only two taxa (Ceratonia siliqua and Erica multiflora) were found in all samples. Seventeen samples were unifloral (68%) - ten (40%) of C. siliqua, six (24%) of E. multiflora and one (4%) of Hedera helix. All honeys have a low honeydew index (<?0.09%), while the values for electrical conductivity and water content were high. The major honey volatile components are: cis- and trans-linalool oxides (64.2%) and hotrienol (10.4%) for the carob (C. siliqua) and trans-linalool oxide (13.4%), p-menthane-1,8-diol (11.1%), safranal (9.7%), limonene (5,4%), -pinene (3.7%) and oxoisophorone (3.4%) for the winter heather (E. multiflora).The authors would like to extend their gratitude to the Mallorca Rural 'Leader plus' programme and the beekeepers of Mallorca and Eivissa for their support and friendly collaboration. The authors also thank an anonymous reviewer for useful comments and suggestions on an earlier version of the manuscript.Boi, M.; Llorens Molina, JA.; CortĂ©s, L.; LladĂł, G.; Llorens, L. (2013). Palynological and chemical volatile components of tipically autumnal honeys of the western Mediterranean. Grana. 52(2):93-105. doi:10.1080/00173134.2012.744774S93105522Andrade, P. B., Amaral, M. T., Isabel, P., Carvalho, J. C. M. F., Seabra, R. M., & Proença da Cunha, A. (1999). 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Journal of Chromatography A, 1216(9), 1458-1462. doi:10.1016/j.chroma.2008.12.066Castro-VĂĄzquez, L., DĂ­az-Maroto, M. C., GonzĂĄlez-Viñas, M. A., & PĂ©rez-Coello, M. S. (2009). Differentiation of monofloral citrus, rosemary, eucalyptus, lavender, thyme and heather honeys based on volatile composition and sensory descriptive analysis. Food Chemistry, 112(4), 1022-1030. doi:10.1016/j.foodchem.2008.06.036Conti, M. E., Stripeikis, J., Campanella, L., Cucina, D., & Tudino, M. B. (2007). Characterization of Italian honeys (Marche Region) on the basis of their mineral content and some typical quality parameters. Chemistry Central Journal, 1(1). doi:10.1186/1752-153x-1-14CustĂłdio, L., Serra, H., Nogueira, J. M. F., Gonçalves, S., & Romano, A. (2006). Analysis of the Volatiles Emitted by Whole Flowers and Isolated Flower Organs of the Carob Tree Using HS-SPME-GC/MS. Journal of Chemical Ecology, 32(5), 929-942. doi:10.1007/s10886-006-9044-9Cuevas-Glory, L., Ortiz-VĂĄzquez, E., Pino, J. A., & Sauri-Duch, E. (2012). Floral classification of Yucatan Peninsula honeys by PCA & HS-SPME/GC-MS of volatile compounds. International Journal of Food Science & Technology, 47(7), 1378-1383. doi:10.1111/j.1365-2621.2012.02983.xDe BolĂČs, O., & Molinier, R. (1984). Vegetation of the Pityusic Islands. Biogeography and Ecology of the Pityusic Islands, 185-221. doi:10.1007/978-94-009-6539-3_9De Maria, C. A. B., & Moreira, R. F. A. (2003). Compostos volĂĄteis em mĂ©is florais. QuĂ­mica Nova, 26(1), 90-96. doi:10.1590/s0100-40422003000100016Guyot, C., Scheirman, V., & Collin, S. (1999). Floral origin markers of heather honeys: Calluna vulgaris and Erica arborea. Food Chemistry, 64(1), 3-11. doi:10.1016/s0308-8146(98)00122-8Herrera, J. (1988). Pollination Relationships in Southern Spanish Mediterranean Shrublands. The Journal of Ecology, 76(1), 274. doi:10.2307/2260469Jerković, I., & Marijanović, Z. (2010). 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 Silva, B. M. (2008). Relevant principal component analysis applied to the characterisation of Portuguese heather honey. Natural Product Research, 22(17), 1560-1582. doi:10.1080/14786410701825004Melliou, E., & Chinou, I. (2011). Chemical constituents of selected unifloral Greek bee-honeys with antimicrobial activity. Food Chemistry, 129(2), 284-290. doi:10.1016/j.foodchem.2011.04.047Pendleton, M. (2006). Descriptions of melissopalynological methods involving centrifugation should include data for calculating Relative Centrifugal Force (RCF) or should express data in units of RCF or gravities (g). Grana, 45(1), 71-72. doi:10.1080/00173130500520479PĂ©rez, R. A., SĂĄnchez-Brunete, C., Calvo, R. M., & Tadeo, J. L. (2002). Analysis of Volatiles from Spanish Honeys by Solid-Phase Microextraction and Gas Chromatography−Mass Spectrometry. Journal of Agricultural and Food Chemistry, 50(9), 2633-2637. doi:10.1021/jf011551rPersano Oddo, L., Piana, L., Bogdanov, S., Bentabol, A., Gotsiou, P., Kerkvliet, J., 
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    Una metodologia di indagine basata su tecniche NDT per la mitigazione del rischio sismico di beni storici soggetti a tutela

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    Sommario In questo lavoro viene presentata una metodologia di indagine NDT (acronimo inglese di Non Destructing Testing), basata su tecniche classiche di misura, telerilevamento prossimale e satellitare ad alta risoluzione spaziale, analisi sismogenetiche ed indagini geofisiche, per la mitigazione del rischio sismico di edifici storici monumentali soggetti a tutela. I risultati sperimentali, ottenuti per il caso di studio del complesso monumentale di Sant’Agostino ubicato nella città di Cosenza, dimostrano l’efficacia dell’approccio proposto sia per applicazioni correnti (il monitoraggio materiale e strutturale di un manufatto), sia per applicazioni emergenti (mitigazione del rischio sismico di beni storici)
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