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We present the first search for the pair production of dark particles X via K_{L}^{0}âXX with X decaying into two photons using the data collected by the KOTO experiment. No signal was observed in the mass range of 40-110 MeV/c^{2} and 210-240 MeV/c^{2}. This sets upper limits on the branching fractions as B(K_{L}^{0}âXX)<(1-4)×10^{-7} and B(K_{L}^{0}âXX)<(1-2)×10^{-6} at the 90% confidence level for the two mass regions, respectively.
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Site-selective probing of iodine 4d orbitals at 13.1 nm was used to characterize the photolysis of CH2I2 and CH2BrI initiated at 202.5 nm. Time-dependent fragment ion momenta were recorded using Coulomb explosion imaging mass spectrometry and used to determine the structural dynamics of the dissociating molecules. Correlations between these fragment momenta, as well as the onset times of electron transfer reactions between them, indicate that each molecule can undergo neutral three-body photolysis. For CH2I2, the structural evolution of the neutral molecule was simultaneously characterized along the C-I and I-C-I coordinates, demonstrating the sensitivity of these measurements to nuclear motion along multiple degrees of freedom.
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BACKGROUND: Drug reaction with eosinophilia and systemic symptoms (DRESS) is a severe adverse drug reaction generally accompanied by skin manifestations as the first and most frequent symptoms. However, skin manifestations and associated clinical features of DRESS have not been fully explored and evaluated. OBJECTIVES: This study aimed to describe the skin manifestations of DRESS in detail and analyse their association with demographic characteristics and extra-cutaneous clinical features. METHODS: We conducted this retrospective study on patients with DRESS diagnosed between September 2009 and August 2021 at three medical institutes and validated using the RegiSCAR score. Data regarding demographics, skin manifestations and clinical characteristics were retrieved through thorough chart reviews. RESULTS: Among 182 potential cases of DRESS, the validated 125 cases were analysed. A widespread rash extending over more than 50% of the body surface area was observed in 122 patients (97.6%) and typical facial oedema was experienced by 67 patients (53.6%). Polymorphous maculopapules were the most common rash morphology (106, 84.8%): specifically, exfoliative (59, 47.2%), urticarial (57, 45.6%) and purpuric forms (39, 31.2%) were common. Mucosal involvement was observed in 41 patients (32.8%). Patients with carboxamide antiepileptics (carbamazepine and oxcarbazepine) experienced more oedema (P = 0.014) and typical facial oedema than those with allopurinol (P = 0.021). The RegiSCAR score was higher in patients with purpura (P < 0.01). CONCLUSIONS: Skin manifestations of DRESS exhibit a wide range of skin lesions and can vary according to the culprit drugs. Early suspicion and prompt intervention are needed to improve prognosis.
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Síndrome de Hipersensibilidad a Medicamentos , Eosinofilia , Exantema , Carbamazepina/efectos adversos , Síndrome de Hipersensibilidad a Medicamentos/diagnóstico , Síndrome de Hipersensibilidad a Medicamentos/etiología , Eosinofilia/patología , Exantema/inducido químicamente , Exantema/patología , Humanos , Estudios RetrospectivosRESUMEN
Free-space optical communication (FSO) is used to provide network configuration flexibility. A network-flying platform-based vertical FSO connection can be employed to enhance mobile network coverage and capacity. Solar background noise can be a potential risk that disrupts the seamless connection in the vertical FSO downlink channel. In this paper, we propose signal transmission using an orbital angular momentum (OAM) beam. The OAM demodulation process can filter sunlight out of the optical receiver except for the signal corresponding to the azimuthal state. We experimentally verified that most of the solar background noise could be reduced. To verify the feasibility of the proposed scheme in a vertical FSO channel, we modeled a FSO vertical downlink with an OAM modulation/demodulation process.
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A total of 25,306 psoriasis participants were matched to 101,224 controls, and the occurrence of osteoporosis was analyzed. Additionally, 79,212 osteoporosis patients were matched to 79,212 controls and a previous history of psoriasis was analyzed. Psoriasis increased the risk of osteoporosis among participants aged ≥ 40 years. INTRODUCTION: The aim of the present study was to evaluate the association between psoriasis and osteoporosis using two different studies. METHODS: Data from the Korean National Health Insurance Service-Health Screening Cohort of participants aged ≥ 40 years were collected from 2002 to 2013. Psoriasis and osteoporosis were included using International Classification of Diseases (ICD)-10 codes. In study I (a follow-up study), a total of 25,306 psoriasis participants were matched to 101,224 controls with respect to age, sex, income, and region of residence, and the occurrence of osteoporosis was analyzed. Crude (simple) and adjusted hazard ratios (HRs) were analyzed using a stratified Cox proportional hazard model. In study II (a nested case-control study), a total of 79,212 osteoporosis patients were matched to 79,212 controls and a previous history of psoriasis was analyzed. Crude and adjusted odds ratios (ORs) were analyzed using a conditional logistic regression analysis. Subgroup analyses were conducted according to age group and sex. RESULTS: The adjusted HR of osteoporosis was 1.09 (95% confidence interval [CI] = 1.05-1.13, P < 0.001) in study I. In the subgroup analysis according to age and sex, the results were consistent except for ≥ 60-year-old women. The adjusted OR of psoriasis was 1.21 (95% CI = 1.16-1.27, P < 0.001) in study II. All subgroups demonstrated high adjusted ORs of osteoporosis for psoriasis. CONCLUSIONS: Psoriasis increased the risk of osteoporosis among participants aged ≥ 40 years in Korea.
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Osteoporosis , Psoriasis , Anciano , Estudios de Casos y Controles , Femenino , Estudios de Seguimiento , Humanos , Estudios Longitudinales , Persona de Mediana Edad , Osteoporosis/epidemiología , Osteoporosis/etiología , Psoriasis/complicaciones , Psoriasis/epidemiología , República de Corea/epidemiología , Factores de RiesgoRESUMEN
The rare decay K_{L}âπ^{0}νν[over ¯] was studied with the dataset taken at the J-PARC KOTO experiment in 2016, 2017, and 2018. With a single event sensitivity of (7.20±0.05_{stat}±0.66_{syst})×10^{-10}, three candidate events were observed in the signal region. After unveiling them, contaminations from K^{±} and scattered K_{L} decays were studied, and the total number of background events was estimated to be 1.22±0.26. We conclude that the number of observed events is statistically consistent with the background expectation. For this dataset, we set an upper limit of 4.9×10^{-9} on the branching fraction of K_{L}âπ^{0}νν[over ¯] at the 90% confidence level.
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Many neutron star properties, such as the proton fraction, reflect the symmetry energy contributions to the equation of state that dominate when neutron and proton densities differ strongly. To constrain these contributions at suprasaturation densities, we measure the spectra of charged pions produced by colliding rare isotope tin (Sn) beams with isotopically enriched Sn targets. Using ratios of the charged pion spectra measured at high transverse momenta, we deduce the slope of the symmetry energy to be 42
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OBJECTIVES: This study aimed to examine the association between statin exposure and dementia risk in individuals with hypercholesterolaemia using data from the NHIS-HEALS database between 2002 and 2015. METHODS: Subjects were classified into statin exposure and statin nonexposure groups according to medication possession ratio. Dementia was defined as those with primary diagnostic dementia codes such as F00-F03, G30, G31.1, G31.9 or G31.82. Cox proportional hazards regression models were adopted after stepwise adjustment for confounders to investigate the prospective association between statin exposure and dementia risk. RESULTS: During the follow-up period (median follow-up 11.7 years), 711 cases of dementia occurred, accounting for 11.5% of the total study population (statin exposure group, 8.2%; statin nonexposure group, 12.9%). Compared to the statin nonexposure group, fully adjusted hazard ratios (HRs) (95% confidence intervals [CIs]) for overall dementia in the statin exposure group were 0.63 (0.43-0.91) and 0.62 (0.50-0.78) in men and women, respectively. Compared to the statin nonexposure group, the HRs (95% CIs) for Alzheimer's disease and related dementia, vascular dementia and other types of dementia in the statin exposure group were 0.54 (0.32-0.91), 2.45 (0.69-8.68) and 0.59 (0.32-1.07), respectively, in men and 0.53 (0.38-0.73), 1.29 (0.42-3.96) and 0.70 (0.51-0.96), respectively, in women. CONCLUSIONS: Hypercholesterolaemic individuals exposed to statin had a lower risk of overall dementia and Alzheimer's disease and related dementia in both sexes, and a lower risk of other types of dementia in women, than subjects who were not exposed to statins.
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Demencia/epidemiología , Demencia/prevención & control , Inhibidores de Hidroximetilglutaril-CoA Reductasas/uso terapéutico , Hipercolesterolemia/tratamiento farmacológico , Adulto , Anciano , Femenino , Humanos , Estimación de Kaplan-Meier , Masculino , Persona de Mediana Edad , Modelos de Riesgos Proporcionales , Estudios Retrospectivos , Factores de Riesgo , Distribución por SexoRESUMEN
The discovery of a two-dimensional electron gas (2DEG) at the LaAlO3/SrTiO3 interface 1 has resulted in the observation of many properties2-5 not present in conventional semiconductor heterostructures, and so become a focal point for device applications6-8. Its counterpart, the two-dimensional hole gas (2DHG), is expected to complement the 2DEG. However, although the 2DEG has been widely observed 9 , the 2DHG has proved elusive. Herein we demonstrate a highly mobile 2DHG in epitaxially grown SrTiO3/LaAlO3/SrTiO3 heterostructures. Using electrical transport measurements and in-line electron holography, we provide direct evidence of a 2DHG that coexists with a 2DEG at complementary heterointerfaces in the same structure. First-principles calculations, coherent Bragg rod analysis and depth-resolved cathodoluminescence spectroscopy consistently support our finding that to eliminate ionic point defects is key to realizing a 2DHG. The coexistence of a 2DEG and a 2DHG in a single oxide heterostructure provides a platform for the exciting physics of confined electron-hole systems and for developing applications.
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A search for the rare decay K_{L}âπ^{0}νν[over ¯] was performed. With the data collected in 2015, corresponding to 2.2×10^{19} protons on target, a single event sensitivity of (1.30±0.01_{stat}±0.14_{syst})×10^{-9} was achieved and no candidate events were observed. We set an upper limit of 3.0×10^{-9} for the branching fraction of K_{L}âπ^{0}νν[over ¯] at the 90% confidence level (C.L.), which improved the previous limit by almost an order of magnitude. An upper limit for K_{L}âπ^{0}X^{0} was also set as 2.4×10^{-9} at the 90% C.L., where X^{0} is an invisible boson with a mass of 135 MeV/c^{2}.
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AIMS: To evaluate the effect of a DNA priming and protein boosting immunization scheme in ducks. METHODS AND RESULTS: Pekin ducks were immunized with pTCY/VP2 DNA vaccine; on day 14 (D14) after primary immunization, the ducks were boosted with either the same vaccine (DNA + DNA) or the rVP2 vaccine (DNA + rVP2). CpG oligodeoxynucleotides containing three copies of GACGTT motifs were used as the adjuvant in the vaccines. Compared with unimmunized controls, both immunization schemes significantly increased the titre of antigen-specific antibodies, lymphocyte proliferation index, percentage of CD4+ and CD8+ cells in peripheral blood mononuclear cells (PBMCs) and mRNA expression of interferon (IFN)-α, IFN-γ, interleukin (IL)-6 and IL-12 in antigen-stimulated PBMCs. Furthermore, compared with the DNA + DNA homologous scheme, the DNA + rVP2 heterologous scheme significantly increased lymphocyte proliferation, percentage of CD4+ and CD8+ cells in PBMCs and upregulation of mRNA expression of cytokines 2 weeks after the boost (D28). CONCLUSIONS: The DNA + rVP2 immunization scheme enhanced immune responses, mainly Th1 type, against parvovirus in ducks. SIGNIFICANCE AND IMPACT OF THE STUDY: The DNA priming and protein boosting heterologous immunization strategy can be applied to develop vaccines against viral infections in ducks. It can potentially be used in breeding ducks because of long-term immunity may confer protection for ducklings.
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Infecciones por Parvoviridae/veterinaria , Parvovirus/inmunología , Enfermedades de las Aves de Corral/prevención & control , Vacunas de ADN/administración & dosificación , Proteínas Virales/administración & dosificación , Adyuvantes Inmunológicos/administración & dosificación , Animales , Citocinas/genética , Citocinas/inmunología , Patos , Inmunización , Inmunización Secundaria , Leucocitos Mononucleares/inmunología , Infecciones por Parvoviridae/inmunología , Infecciones por Parvoviridae/prevención & control , Infecciones por Parvoviridae/virología , Parvovirus/genética , Enfermedades de las Aves de Corral/genética , Enfermedades de las Aves de Corral/inmunología , Enfermedades de las Aves de Corral/virología , Células TH1/inmunología , Vacunas de ADN/genética , Vacunas de ADN/inmunología , Proteínas Virales/genética , Proteínas Virales/inmunologíaRESUMEN
AIM: To compare the diagnostic performance of total counts of metastatic lymph nodes (LN-sum) and conventional multidetector (MD) computed tomography (CT) staging in the nodal evaluation of advanced gastric cancer (AGC) patients. MATERIALS AND METHODS: In total, 127 consecutive patients who underwent preoperative MDCT and gastrectomy for AGC were identified. Metastatic LNs on MDCT were defined as LNs with a short axis ≥8 mm, marked or heterogeneous enhancement, and morphological features (central necrosis, round shape, clustering). The sensitivity, specificity, accuracy, positive predictive value (PPV), and negative predictive value (NPV) of the N-stage using LN-sum and conventional MDCT staging were generated and compared. In addition, metastatic LN counts between the MDCT and the histopathological examinations and correlation between LN-sum and histopathological nodal status were analysed. RESULTS: The total counts of metastatic LNs on MDCT was significantly smaller than those detected in histopathological assessments (p<0.0001). LN-sum showed significant correlation with the pathological N stage and the number of metastatic LNs (rho=0.69, 0.73, p<0.0001). The areas under the receiver operating characteristic curve were 0.896, and 0.835, for N stage ≥N2 and N3, with cut-off values of 12.5 and 23.5 mm, respectively. LN-sum provided better diagnostic performance than conventional MDCT staging for discriminating N0-2 versus N3; sensitivity, accuracy, PPV and NPV of LN-sum were significantly higher (80.4 versus 52.2%, 81.1 versus 68.5%, 71.2 versus 57.1%, and 88 versus 74.1%). CONCLUSION: LN-sum may be sufficiently useful in assessing the N3 stage of AGC and may help to plan appropriate therapy for AGC patients.
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Ganglios Linfáticos/diagnóstico por imagen , Metástasis Linfática/diagnóstico por imagen , Tomografía Computarizada Multidetector , Neoplasias Gástricas/diagnóstico por imagen , Neoplasias Gástricas/patología , Adulto , Anciano , Anciano de 80 o más Años , Femenino , Gastrectomía , Humanos , Masculino , Persona de Mediana Edad , Estadificación de Neoplasias/métodos , Valor Predictivo de las Pruebas , Cuidados Preoperatorios , Estudios Retrospectivos , Sensibilidad y Especificidad , Neoplasias Gástricas/cirugíaRESUMEN
BACKGROUND: The association between psoriasis and risk of malignancy has not been thoroughly evaluated in a large longitudinal cohort of Asian population. OBJECTIVE: To determine the long-term risk of malignancy in Korean adult patients with psoriasis. METHODS: We conducted a nationwide population-based prospective cohort study with a 15-year observational period. During the baseline period (1997-2000), total 1 773 786 Korean subjects who received health insurance from the National Health Insurance System were enrolled and 5788 subjects were defined as a psoriasis group. The number of new-onset malignancy was collected during the observational period (2001-2015). RESULTS: Patients with psoriasis had a higher adjusted hazard ratio (aHR) for development of overall malignancy [aHR 1.08, 95% confidence interval (CI) 1.00-1.18] and gastric cancer (aHR 1.31, 95% CI 1.08-1.58) compared to controls. The risks of non-Hodgkin lymphoma and non-melanoma skin cancer were significantly increased only in patients with psoriasis who received systemic treatments (aHR 2.86, 95% CI 1.07-7.61 and aHR 3.93, 95% CI 1.47-10.47, respectively). CONCLUSION: Psoriasis is associated with long-term risk for overall malignancy in Koreans, which was primarily driven by the increased risk of gastric cancer.
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Psoriasis/complicaciones , Adulto , Femenino , Humanos , Masculino , Persona de Mediana Edad , Vigilancia de la Población , Estudios Prospectivos , Psoriasis/epidemiología , República de Corea/epidemiología , Factores de RiesgoRESUMEN
Warm dense conditions in titanium foils irradiated with intense femtosecond laser pulses are diagnosed using an x-ray imaging spectroscopy technique. The line shapes of radially resolved titanium Kα spectra are measured with a toroidally bent GaAs crystal and an x-ray charge-coupled device. Measured spectra are compared with the K-shell emissions modeled using an atomic kinetics - spectroscopy simulation code. Kα line shapes are strongly affected by warm (5-40 eV) bulk electron temperatures and imply multiple temperature distributions in the targets. The spatial distribution of temperature is dependent on the target thickness, and a thin target shows an advantage to generate uniform warm dense conditions in a large area.
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The use of calcium phosphate bone cement has been described to allow for retention of reduction. Therefore, we evaluated whether augmentation with resorbable calcium phosphate could improve fracture stability in osteoporotic hip fractures. The results showed that augmentation with calcium phosphate cement significantly improved the stability of intertrochanteric fractures. INTRODUCTION: The aim with this study was to measure whether augmentation with resorbable calcium phosphate cement could improve fracture stability in osteoporotic hip fractures. METHODS: We retrospectively reviewed 82 patients who underwent closed reduction and internal fixation with proximal femoral nail (PFN) for unstable intertrochanteric fractures between 2014 and 2017. In 42 of 82 patients, patients were treated with a PFN alone (group I). These patients were compared with 40 patients for whom the same device combined with calcium phosphate cement for augmentation was used (group II). Questionnaire surveys or telephone interviews were conducted and patients completed a self-report Harris hip score (HHS) and visual analog scale (VAS) scores. Radiographic outcomes including mean sliding distance of screw, femoral shortening, and varus collapse were compared. Postoperative complications were compared. RESULTS: Clinical outcomes at 6 months after surgery were equivalent in both groups. Screw sliding, femoral shortening, and varus collapse were all significantly reduced in the cemented group at the last follow-up (p < 0.001, p = 0.005, p < 0.001, respectively). A total of 9 (21%) complications occurred in group I. In contrast, 2 (5%) complications were seen in group II (p = 0.029). CONCLUSIONS: Augmentation with calcium phosphate cement significantly improved the stability of intertrochanteric fractures fixed with a PFN and reduced overall failure rates. We believe augmentation with resorbable calcium phosphate cement for osteoporotic hip fractures is a reasonable option in selected patients.
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Cementos para Huesos/uso terapéutico , Fosfatos de Calcio/uso terapéutico , Fijación Interna de Fracturas/métodos , Fracturas de Cadera/cirugía , Fracturas Osteoporóticas/cirugía , Anciano , Anciano de 80 o más Años , Femenino , Fijación Interna de Fracturas/efectos adversos , Curación de Fractura , Fracturas de Cadera/diagnóstico por imagen , Humanos , Masculino , Variaciones Dependientes del Observador , Fracturas Osteoporóticas/diagnóstico por imagen , Complicaciones Posoperatorias , Radiografía , Estudios RetrospectivosRESUMEN
The key parameter to discuss the possibility of the pion condensation in nuclear matter, i.e., the so-called Landau-Migdal parameter g^{'}, was extracted by measuring the double-differential cross sections for the (p,n) reaction at 216 MeV/u on a neutron-rich doubly magic unstable nucleus, ^{132}Sn with the quality comparable to data taken with stable nuclei. The extracted strengths for Gamow-Teller (GT) transitions from ^{132}Sn leading to ^{132}Sb exhibit the GT giant resonance (GTR) at the excitation energy of 16.3±0.4(stat)±0.4(syst) MeV with the width of Γ=4.7±0.8 MeV. The integrated GT strength up to E_{x}=25 MeV is S_{GT}^{-}=53±5(stat)_{-10}^{+11}(syst), corresponding to 56% of Ikeda's sum rule of 3(N-Z)=96. The present result accurately constrains the Landau-Migdal parameter as g^{'}=0.68±0.07, thanks to the high sensitivity of the GTR energy to g^{'}. In combination with previous studies on the GTR for ^{90}Zr and ^{208}Pb, the result of this work shows the constancy of this parameter in the nuclear chart region with (N-Z)/A=0.11 to 0.24 and A=90 to 208.
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BACKGROUND AND AIMS: Bilirubin has antioxidant and anti-inflammatory properties; serum bilirubin levels have been known to be inversely associated with cardiovascular disease. However, the effects of different bilirubin subtypes on cardiometabolic traits are unknown. In this study, we aimed to determine whether direct bilirubin is more strongly correlated with small, dense low-density lipoprotein (sdLDL) compared to other bilirubin subtypes. We also investigated which LDL subfractions exhibited the highest correlation with direct bilirubin. METHODS AND RESULTS: A total of 288 overweight and centrally obese women were included in this study. The Pearson correlation and Steiger's Z test were used to compare the correlation coefficients between bilirubin subtypes and lipoproteins. Multiple linear regression analyses were used to evaluate the independent association between direct bilirubin and mean LDL particle size. Only direct bilirubin levels were significantly associated with the sdLDL subfraction and mean LDL particle size. Mean LDL particle size exhibited a significantly stronger correlation with direct bilirubin than sdLDL, percent sdLDL, and the sdLDL:large LDL ratio. Regression analysis showed that direct bilirubin was significantly associated with mean LDL particle size, according to both the stepwise method (ß = 11.445, P value = 0.002) and the enter method (ß = 11.655, P value = 0.002). CONCLUSIONS: Direct bilirubin is more strongly correlated with the sdLDL subfraction compared with total and indirect bilirubin, and is independently associated with mean LDL particle size in overweight and centrally obese women.
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Bilirrubina/sangre , Lipoproteínas LDL/sangre , Obesidad Abdominal/sangre , Sobrepeso/sangre , Adiposidad , Adolescente , Adulto , Anciano , Biomarcadores/sangre , Estudios Transversales , Femenino , Humanos , Persona de Mediana Edad , Obesidad Abdominal/diagnóstico , Obesidad Abdominal/fisiopatología , Sobrepeso/diagnóstico , Sobrepeso/fisiopatología , Tamaño de la Partícula , Valor Predictivo de las Pruebas , Adulto JovenRESUMEN
AIM: To investigate the prognostic significance of computed tomography (CT) attenuation and 2-[18F]-fluoro-2-deoxy-d-glucose (FDG) uptake in subcutaneous adipose tissue (SAT) and visceral adipose tissue (VAT) for predicting overall survival (OS) in patients with pancreatic adenocarcinoma. MATERIALS AND METHODS: Data were collected retrospectively from 66 patients with pancreatic adenocarcinoma who had undergone pretreatment combined FDG positron-emission tomography (PET)/CT imaging and subsequent curative or palliative treatment. Metabolic parameters of primary tumour including total lesion glycolysis (TLG) and heterogeneity factor were measured. Volume, CT attenuation (attenuation), and FDG uptake of SAT and VAT were derived from PET/CT acquisitions. Survival analysis using Cox proportional hazard modelling was performed to assess the relationship between both attenuation and FDG uptake of fat tissue and OS. RESULTS: During follow-up, 33 patients (50%) died and the median OS was 12 months. There were significant positive correlations between attenuation and mean standardised uptake values of both SAT (p<0.001, r=0.697) and VAT (p<0.001, r=0.742). Attenuation and FDG uptake of adipose tissue were significantly associated with heterogeneity factor and T stage. Patients with high FDG uptake and attenuation of SAT and VAT had significantly worse OS than those with low values. On multivariate analysis, attenuation of SAT (p=0.047) and VAT (p=0.021), and FDG uptake of VAT (p=0.005) were correlated significantly with OS after adjusting for age, sex, body mass index, TNM stage, and TLG. CONCLUSIONS: CT attenuation of SAT and VAT, and FDG uptake of VAT significantly correlated with OS in patients with pancreatic adenocarcinoma, independent of TNM staging and TLG.
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Adenocarcinoma/diagnóstico por imagen , Tejido Adiposo/metabolismo , Fluorodesoxiglucosa F18/farmacocinética , Neoplasias Pancreáticas/diagnóstico por imagen , Tomografía Computarizada por Tomografía de Emisión de Positrones , Radiofármacos/farmacocinética , Tomografía Computarizada por Rayos X , Adenocarcinoma/patología , Adulto , Anciano , Anciano de 80 o más Años , Femenino , Humanos , Masculino , Persona de Mediana Edad , Neoplasias Pancreáticas/patología , Valor Predictivo de las Pruebas , Pronóstico , Estudios Retrospectivos , Carga TumoralRESUMEN
AIM: To evaluate the prevalence, clinical relevance, and magnetic resonance imaging (MRI) features of extra-capsular ganglia at the gastrocnemius origin and to assess their association with internal derangement and osteoarthritis of the knee. MATERIALS AND METHODS: One hundred consecutive knee MRI examinations, obtained within a 6-month period from patients with no history of recent knee trauma, recent injections, inflammatory arthritis, infection, or tumours, were evaluated retrospectively for the presence of ganglia at the gastrocnemius origin. The lesions were divided into two groups: an intra-capsular and an extra-capsular group. Cyst morphology (size, shape, and internal septa), internal derangement of the knee (cartilage lesion, cruciate ligament injury, meniscal tear, and corner injury on MRI, and osteoarthritis of the knee on radiographs) were evaluated. The chi-square, Fisher's exact, and t-tests were used to compare the two groups, in addition to multivariate stepwise logistic regression analysis. RESULTS: Thirty-nine ganglia with an extra-capsular location were identified on 100 knee MRI (39 %). Rounded shape and internal septa were more common in the extra-capsular than in the intra-capsular group (p<0.001). Frequencies of high-grade cartilage, meniscal tear, and high-grade osteoarthritis significantly differed between the groups (p≤0.038). In multivariate analysis, the only significant association was between high-grade osteoarthritis and the extra-capsular group. CONCLUSION: Extra-capsular ganglia at the gastrocnemius origin were not uncommon on knee MRI and had features typical of ganglia found at other sites. High-grade osteoarthritis was significantly associated with extra-capsular ganglia.
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Ganglios/diagnóstico por imagen , Imagen por Resonancia Magnética/métodos , Músculo Esquelético/diagnóstico por imagen , Osteoartritis de la Rodilla/diagnóstico por imagen , Adolescente , Adulto , Anciano , Femenino , Humanos , Interpretación de Imagen Asistida por Computador , Masculino , Persona de Mediana Edad , Estudios RetrospectivosRESUMEN
OBJECTIVE: To identify the molecular genetic etiology of an individual with a dysmorphic face, unusual teeth mobility, and root resorption. SUBJECTS AND METHODS: DNA samples were collected from a trio of family members, and whole-exome sequencing was performed. RESULTS: Mutational analysis revealed a de novo mutation (c.6787C>T) in the last exon of the NOTCH2 gene. This mutation would introduce a premature stop codon [p.(Gln2263*)] and generate a truncated protein without C-terminus, escaping from the nonsense-mediated decay system. Sanger sequencing confirmed that this mutation was generated spontaneously. CONCLUSIONS: In this study, we identified a novel nonsense mutation in the last exon of the NOTCH2 gene causing Hajdu-Cheney syndrome. We described the genotype and phenotype correlation and the related dental complications. These results will advance the understanding of the NOTCH2 signaling in periodontitis and root resorption.