226 research outputs found

    Volumetric study of the maxillary sinus in patients with sinus pathology

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    OBJECTIVES: The aim of this study is 1) to obtain the area and volumes of the maxillary sinuses in patients affected by clinically unilateral sinus pathology by comparing the results to the contralateral sinus and 2) to determine the importance of the volumetric measures when diagnosing the percentage of sinus obliteration. MATERIALS AND METHODS: A single-centre observational retrospective clinical study was conducted in 214 patients with clinically unilateral sinus pathologies. Linear (mm), area (mm2) and volume (mm3) measurements were taken from Cone Beam Computed Tomography (CBCT) images of the affected sinus as well as from the contralateral ones. Histopathological study was performed using haematoxylin/eosin and PAS or Groccot stains. The lesions were classified into non-specific sinusitis, polyps, inverted papilloma, fungal sinusitis, cysts, mucocele and other lesions. Chi-squared test, ANOVA for independent samples and Pearson test were used for the statistical analysis. RESULTS: A total of 100 sinuses were measured in 50 patients (28 men and 22 women, with an age of 43.6 years (SD = 18.3), 50 pathological and 50 healthy contralateral sinuses. The three-dimensional occupation volume of the affected sinuses was 97.1 mm3 (62.5%) vs. 40.6 mm3 (22.8%) in the healthy ones (p<0.0001). The medial-lateral width of the sinus in the frontal plane was significantly higher in the cysts group (32.4 mm, CI: 23-41.8 mm). CONCLUSION: In medical terms, the global percentage of occupation determined using the classic manual determination method does not differ from the three-dimensional percentage calculated using specific complex software

    Validation of an IGF1 Screening Method for Retinopathy of Pre-maturity

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    Retinopathy of pre-maturity (ROP) is a retinal disease that causes arrest of vascularization of the retina and can result in retinal detachment and blindness. Current screening protocols may not be sufficiently accurate to identify all at-risk patients. The aim of this study is to validate a method for improved identification of newborns at risk of ROP. We conducted a prospective clinical trial of pre-term newborns <32 weeks of gestation and/or <1,500 g birth weight during a 6-year period in a tertiary care hospital. We applied our new method based on measurement of insulin-like growth factor 1 (IGF1) levels at 3 weeks of age and the presence of sepsis during the first 3 weeks of life. Our screening protocol allowed exclusion of 121 (79.1%) patients for whom American Academy of Pediatrics (AAP) guidelines recommended screening, had a negative predictive value of 100%, and correctly identified all patients with ROP. Following retrospective assessment of our data based on these findings, we propose further restriction of the current AAP indications for screening to <1,100 g and <28 weeks of gestation in order to improve diagnostic efficacy while ensuring optimal use of restriction of human and material resources

    Rapid Phenotype-Driven Gene Sequencing with the NeoSeq Panel: A Diagnostic Tool for Critically Ill Newborns with Suspected Genetic Disease

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    New genomic sequencing techniques have shown considerable promise in the field of neonatology, increasing the diagnostic rate and reducing time to diagnosis. However, several obstacles have hindered the incorporation of this technology into routine clinical practice. We prospectively evaluated the diagnostic rate and diagnostic turnaround time achieved in newborns with suspected genetic diseases using a rapid phenotype-driven gene panel (NeoSeq) containing 1870 genes implicated in congenital malformations and neurological and metabolic disorders of early onset (<2 months of age). Of the 33 newborns recruited, a genomic diagnosis was established for 13 (39.4%) patients (median diagnostic turnaround time, 7.5 days), resulting in clinical management changes in 10 (76.9%) patients. An analysis of 12 previous prospective massive sequencing studies (whole genome (WGS), whole exome (WES), and clinical exome (CES) sequencing) in newborns admitted to neonatal intensive care units (NICUs) with suspected genetic disorders revealed a comparable median diagnostic rate (37.2%), but a higher median diagnostic turnaround time (22.3 days) than that obtained with NeoSeq. Our phenotype-driven gene panel, which is specific for genetic diseases in critically ill newborns is an affordable alternative to WGS and WES that offers comparable diagnostic efficacy, supporting its implementation as a first-tier genetic test in NICUs

    Clinicopathological features of 214 maxillary sinus pathologies. A ten-year single-centre retrospective clinical study

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    BACKGROUND: Diagnosis of maxillary sinus pathology must include the clinical radiological study (CRS) and histopathological analysis. The aim of this study is 1) to describe the clinicopathological features of maxillary sinus lesions, obtained successively in a single medical centre over the last 10 years and 2) to determine the sensitivity and specificity for the diagnosis of malignant lesions based exclusively on the CRS. METHODS: It is a single-centre observational retrospective clinical study on patients who attended the University Hospital Complex of Santiago de Compostela (CHUS) with sinus pathologies during the period of 2009-2019. RESULTS: The sample consisted of 133 men (62.1%) and 81 women (37.9%), with an average age of 46.9 years (SD = 18.8). In terms of frequency, the most frequent pathology was the unspecified sinusitis (44.4%), followed by polyps (18.2%), malignant tumours (9.8%), inverting papilloma (7.5%), fungal sinusitis (4.7%), cysts (3.7%), benign tumours (2.3%), mucocele (2.3%) and other lesions (1.9%). Cysts and benign tumours were diagnosed earliest Vs malignant tumours (65.2 years (SD = 16.1)) were diagnosed the latest (p < 0.001). Based only on the CRS for malignancies, diagnostic indexes were 71.4% sensitivity and 97.9% specificity, with a Kappa value of 0.68 with (p < 0.001). CONCLUSION: Maxillary sinus pathology is very varied with therapeutic and prognostic repercussions. CRS is sometimes insufficient and histopathological confirmation is essential

    BASH: a tool for managing BeadArray spatial artefacts

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    Summary: With their many replicates and their random layouts, Illumina BeadArrays provide greater scope fordetecting spatial artefacts than do other microarray technologies. They are also robust to artefact exclusion, yet there is a lack of tools that can perform these tasks for Illumina. We present BASH, a tool for this purpose. BASH adopts the concepts of Harshlight, but implements them in a manner that utilizes the unique characteristics of the Illumina technology. Using bead-level data, spatial artefacts of various kinds can thus be identified and excluded from further analyses

    Acylcarnitine profile in neonatal hypoxic-ischemic encephalopathy: The value of butyrylcarnitine as a prognostic marker

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    Optimal prognostic markers evaluating early neuroprotective interventions in neonatal hypoxic-ischemic encephalopathy (HIE) are lacking. This study was designed to assess the prognostic value of acylcarnitines in neonatal HIE.An observational cohort study was conducted over 10 years in 67 HIE. Variables analyzed included sex, blood cord pH, Apgar score, hypothermia treatment (yes/no), neuron-specific enolase (NSE) levels, and clinical outcome (neurological examination, brain magnetic resonance imaging [MRI], and electroencephalogram) before discharge and at 6 months. Acylcarnitine profiles were analyzed by tandem-mass spectrometry on dried-blood spots collected on day 3 for newborn screening. A cohort of healthy newborns was used as control group.HIE patients had significantly increased C4, C5, C5:1, C6, C6-OH, C8 levels (all P < .01) and decreased long-chain acylcarnitine levels (P < .03). Hypothermia treatment was associated with a decrease in C4 levels (p = 0.005) and an increase in most long-chain acylcarnitine levels (P < .01). A significant association was found between C4 levels and NSE on day 1 of hypothermia treatment (P = .002) and abnormal brain magnetic resonance imaging (MRI) at discharge (P = .037). In the hypothermia group, C4 levels decreased in patients with favorable outcomes but remained high in those who progressed unfavorably.C4 appears to be a good prognostic marker in HIE, as blood levels correlated with NSE levels and abnormal MRI findings. Furthermore, hypothermia did not lead to decreased levels in patients with adverse outcomes

    Creación de empresas turísticas en entornos rurales: el caso de Arte-Gaia

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    This case aims to describe an innovative example of tourism entrepreneurship in a rural setting: Arte-Gaia, a small firm located in the town of Artenara on the island of Gran Canaria and created to contribute to local sustainable development. With information collected through personal interviews and various secondary sources, the entrepreneurial process followed by its founder, Juanate Gil, is analysed by evaluating the various strategic decisions adopted in the creation of this innovative business (concretion of the idea, definition of the service, choice of competitive strategy, search for financing, strategic alliances, etc.), as well as its main future challenges.Este caso tiene como finalidad describir una innovadora de emprendimiento turístico en entornos rurales: la empresa Arte-Gaia, ubicada la localidad de Artenara de la isla de Gran Canaria y concebida para contribuir al desarrollo sostenible local. Con información recopilada mediante entrevistas personales y diversas fuentes secundarias, se estudia el proceso emprendedor seguido por su impulsora, Juanate Gil, analizando las distintas decisiones estratégicas adoptadas en la creación de este negocio innovador (concreción de la idea, definición del servicio a ofertar, elección de la estrategia competitiva, búsqueda de financiación, alianzas estratégicas, etc.), así como sus principales retos de futuro

    Plan de negocios para la implementaci?n de un restobar en la ciudad de Trujillo

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    La presente tesis realiza un an?lisis para determinar la viabilidad a nivel de mercado, t?cnico y econ?mico que permita implementar un restobar en la ciudad de Trujillo, para ello se realiz? un estudio de mercado aplicando una encuesta a 544 personas del NSE B y C1 de los distritos de Trujillo y Victor Larco, de los cuales 386 personas suelen asistir al menos una vez al mes a un restobar, pub o bar. Para captar el p?blico objetivo el restobar ?SO PARA VOCE? realizar? una estrategia de segmentaci?n, diferenciaci?n y posicionamiento. Para ejecutar el proyecto, se requiere una inversi?n total de S/ 223,394.00. Los socios aportar?n el 60% del importe total, la diferencia ser? financiada por un pr?stamo bancario. El restobar en el a?o 2020 llega al umbral de rentabilidad, con un total de 17,925 tickets y ventas por S/ 1,193,958.00; a partir de este a?o la demanda del proyecto sobrepasa este punto de equilibrio en promedio del 44% anual. Al quinto a?o la evaluaci?n del proyecto se determina que este modelo de negocio generar? un VAN de S/ 209,988.25 y un TIR del 43%, lo que significa que el proyecto es viable y est? generando valor a los accionistas

    Global Gene Expression Characterization of Circulating Tumor Cells in Metastasic Castration-Resistant Prostate Cancer Patients

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    BACKGROUND: Current therapeutic options in the course of metastatic castration-resistant prostate cancers (mCRPC) reinforce the need for reliable tools to characterize the tumor in a dynamic way. Circulating tumor cells (CTCs) have emerged as a viable solution to the problem, whereby patients with a variety of solid tumors, including PC, often do not have recent tumor tissue available for analysis. The biomarker characterization in CTCs could provide insights into the current state of the disease and an overall picture of the intra-tumor heterogeneity. METHODS: in the present study, we applied a global gene expression characterization of the CTC population from mCRPC (n = 9), with the goal to better understand the biology of these cells and identify the relevant molecules favoring this tumor progression. RESULTS: This analysis allowed the identification of 50 genes specifically expressed in CTCs from patients. Six of these markers (HOXB13, QKI, MAOA, MOSPD1, SDK1, and FGD4), were validated in a cohort of 28 mCRPC, showing clinical interest for the management of these patients. Of note, the activity of this CTC signature was related to the regulation of MYC, a gene strongly implicated in the biology of mCRPC. CONCLUSIONS: Overall, our results represent new evidence on the great value of CTCs as a non-invasive biopsy to characterize PC
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