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1.
Opt Express ; 27(22): 31889-31899, 2019 Oct 28.
Artículo en Inglés | MEDLINE | ID: mdl-31684412

RESUMEN

Time-resolved cameras with high temporal resolution (down to ps) enable a huge set of novel applications ranging from biomedicine and environmental science to material and device characterization. In this work, we propose, and experimentally validate, a novel detection scheme for time-resolved imaging based on a compressed sampling approach. The proposed scheme unifies into a single element all the required operations, i.e. space modulation, space integration and time-resolved detection, paving the way to dramatic cost reduction, performance improvement and ease of use.

2.
Opt Express ; 27(11): 15956-15967, 2019 May 27.
Artículo en Inglés | MEDLINE | ID: mdl-31163784

RESUMEN

We introduce a high-performance hyperspectral camera based on the Fourier-transform approach, where the two delayed images are generated by the Translating-Wedge-Based Identical Pulses eNcoding System (TWINS) [Opt. Lett. 37, 3027 (2012)], a common-path birefringent interferometer that combines compactness, intrinsic interferometric delay precision, long-term stability and insensitivity to vibrations. In our imaging system, TWINS is employed as a time-scanning interferometer and generates high-contrast interferograms at the single-pixel level. The camera exhibits high throughput and provides hyperspectral images with spectral background level of -30dB and resolution of 3 THz in the visible spectral range. We show high-quality spectral measurements of absolute reflectance, fluorescence and transmission of artistic objects with various lateral sizes.

3.
Lupus ; 28(14): 1705-1711, 2019 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-31707917

RESUMEN

OBJECTIVE: To evaluate the impact of duration of remission on the health-related quality of life (HRQoL) of patients with systemic lupus erythematosus (SLE). METHODS: We conducted a 5-year retrospective study on two Italian cohorts. Remission was defined as a continuative period of no clinical disease activity, according to the Systemic Lupus Erythematosus Disease Activity Index 2 K, and a permitted maximum prednisone dose of 5 mg/day. HRQoL was measured using the 36-Item Short-Form Health Survey (SF36) during the last visit. RESULTS: We enrolled 136 female SLE patients. During observation, 15 (11%) patients had been in remission for ≥1 and <2 years, 15 (11%) for ≥2 and <3 years, 19 (14%) for ≥3 and <4 years, 9 (7%) for ≥4 and <5 years, and 53 (39%) had been in prolonged remission for ≥5 years. In the multivariate model, considering depression and fatigue as covariates, patients in prolonged remission showed significantly better scores in the physical functioning (p = 0.039), role physical (p = 0.029), bodily pain (p = 0.0057), general health (p = 0.0033) and social functioning (p = 0.0085) components of the SF36, compared with those in remission <5 years or unremitted. Subsequent mediation analyses found that these effects were partly influenced by depression. CONCLUSION: Lupus remission could improve the HRQoL of SLE patients, particularly when associated with appropriate management of depression and fatigue.


Asunto(s)
Depresión/epidemiología , Fatiga/epidemiología , Lupus Eritematoso Sistémico/complicaciones , Calidad de Vida , Adulto , Femenino , Humanos , Italia/epidemiología , Modelos Lineales , Lupus Eritematoso Sistémico/tratamiento farmacológico , Masculino , Persona de Mediana Edad , Prednisona/administración & dosificación , Inducción de Remisión , Estudios Retrospectivos , Índice de Severidad de la Enfermedad , Encuestas y Cuestionarios
4.
Opt Lett ; 43(9): 2134-2137, 2018 May 01.
Artículo en Inglés | MEDLINE | ID: mdl-29714764

RESUMEN

We present a time domain diffuse Raman spectrometer for depth probing of highly scattering media. The system is based on, to the best of our knowledge, a novel time-correlated single-photon counting (TCSPC) camera that simultaneously acquires both spectral and temporal information of Raman photons. A dedicated non-contact probe was built, and time domain Raman measurements were performed on a tissue mimicking bilayer phantom. The fluorescence contamination of the Raman signal was eliminated by early time gating (0-212 ps) the Raman photons. Depth sensitivity is achieved by time gating Raman photons at different delays with a gate width of 106 ps. Importantly, the time domain can provide time-dependent depth sensitivity leading to a high contrast between two layers of Raman signal. As a result, an enhancement factor of 2170 was found for our bilayer phantom which is much higher than the values obtained by spatial offset Raman spectroscopy (SORS), frequency offset Raman spectroscopy (FORS), or hybrid FORS-SORS on a similar phantom.

5.
Lupus ; 26(14): 1463-1472, 2017 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-28786768

RESUMEN

Background Systemic lupus erythematosus is associated with an increased risk of cardiovascular disease. Low-dose aspirin, hydroxychloroquine and statins have been suggested to play a prophylactic role of cardiovascular events. This study is devoted to reviewing the literature on the topic and assessing the effects of these drugs in preventing a first cardiovascular event in a two-centre Italian series. Methods A PubMed search on cardiovascular prevention in systemic lupus erythematosus was performed. Moreover, systemic lupus erythematosus patients admitted to two centres from 2000-2015, who at admission had not experienced any cardiovascular event, were investigated. Aspirin, hydroxychloroquine and statin use, and the occurrence of any cardiovascular event, were recorded at each visit. Kaplan-Meier and Cox regression analyses were performed to evaluate the role of traditional, disease-related cardiovascular risk factors and of each of the three drugs in the occurrence of new cardiovascular events. Results The literature search produced conflicting results. Two hundred and ninety-one systemic lupus erythematosus patients were included in the study and followed for a median of eight years. During follow-up, 16 cardiovascular events occurred. At multivariate analysis, taking aspirin (hazard ratio: 0.24) and hydroxychloroquine for more than five years (hazard ratio: 0.27) reduced, while antiphospholipid antibody positivity (hazard ratio: 4.32) increased, the risk of a first cardiovascular event. No effect of statins emerged. Conclusion Our study confirms an additive role of aspirin and hydroxychloroquine in the primary prophylaxis of cardiovascular events in Italian patients with systemic lupus erythematosus. The lack of any detected effect in previous reports may depend on the design of studies and their short follow-up period.


Asunto(s)
Enfermedades Cardiovasculares/prevención & control , Lupus Eritematoso Sistémico/complicaciones , Prevención Primaria/métodos , Adulto , Anticuerpos Antifosfolípidos/inmunología , Aspirina/administración & dosificación , Enfermedades Cardiovasculares/etiología , Femenino , Humanos , Hidroxicloroquina/administración & dosificación , Inhibidores de Hidroximetilglutaril-CoA Reductasas/administración & dosificación , Masculino , Factores de Riesgo
6.
Clin Exp Immunol ; 181(1): 100-9, 2015 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-25847615

RESUMEN

Human leucocyte antigen (HLA)-G has a tolerogenic function and could play a role in the pathogenesis of immune-mediated diseases, including systemic sclerosis (SSc). The aim of this study was to evaluate HLA-G serum expression (sHLA-G) and the HLA-G gene 14 base pairs (bp) insertion/deletion (del(-)/del(+)) polymorphism in patients with Ssc, to search for possible associations with clinical and laboratory variables. sHLA-G was measured by enzyme-linked immunosorbent assay (ELISA) in sera from 77 patients with SSc and 32 healthy donors (HD); the 14 bp del(-)/del(+) polymorphism was evaluated by polymerase chain reaction (PCR) amplification of peripheral blood mononuclear cells (PBMC) genomic DNA. Receiver operating characteristics (ROC) analysis identified the HLA-G cut-off that best discriminated dichotomized clinical and serological variables, that was subsequently employed to subdivide SSc patients into HLA-G high (HLA-G(+)) and low (HLA-G(-)) profile groups. sHLA-G were not statistically different between SSc patients and HD, nor between distinct SSc autoantibody subsets. Subdividing SSc patients by HLA-G positivity or negativity yielded significant differences for the modified Rodnan skin score (mRss) (P = 0.032), 'general' (P = 0.031) and 'kidney' (P = 0.028) Medsger severity scores (MSS) and disease activity index, and especially Δ heart/lung (P = 0.005). A worse 'general' MSS (P = 0.002) and Δ heart/lung (P = 0.011) were more frequent in the low sHLA-G group. These two variables and mRss were associated with sHLA-G levels at logistic regression analysis. Treatment had no influence on sHLA-G. Moreover, a higher frequency of scleredema was detected in the del(+)/del(+) than the del(-)/del(+) group (P = 0.04). These data suggest modulatory effects of sHLA-G on SSc. Prospective studies are needed to investigate a role in predicting the disease course.


Asunto(s)
Antígenos HLA-G/sangre , Antígenos HLA-G/genética , Leucocitos Mononucleares/inmunología , Esclerodermia Sistémica/genética , Esclerodermia Sistémica/inmunología , Femenino , Frecuencia de los Genes , Antígenos HLA-G/inmunología , Humanos , Masculino , Polimorfismo de Nucleótido Simple , Estudios Retrospectivos
7.
Scand J Rheumatol ; 44(3): 229-37, 2015 May.
Artículo en Inglés | MEDLINE | ID: mdl-25444258

RESUMEN

OBJECTIVES: To investigate how chronic intake of glucocorticoids (GCs) is perceived by patients with systemic sclerosis (SSc) in terms of necessity and concerns, and whether such beliefs influence treatment adherence. METHOD: Ninety-eight consecutive SSc patients who they had been taking oral GCs for > 3 months prior to the study were enrolled. All patients underwent a clinical evaluation and laboratory investigations, and were asked to complete four self-administered questionnaires: the Beliefs about Medicines Questionnaire (Specific-BMQ), the four-item Morisky Medication Adherence Scale (MMAS-4), the 36-item Short Form Health Survey (SF-36), and the Health Assessment Questionnaire Disability Index (HAQ-DI). Moreover, patients answered two additional questions investigating their knowledge about GC-related adverse events (AEs). RESULTS: Seventy-seven patients (83.6%) believed in the necessity of GCs for maintaining health but 72.8% also reported concerns about potential AEs to GCs. A high adherence rate was recorded in 64.1% of patients. Only about 20% of patients reported knowing that a daily GC dose and treatment duration influence the burden of GC-related AEs. Patients who believed that GC-related AEs were influenced by the dose scored lower concerns (p = 0.043) and were more frequently labelled as accepting (perceiving high necessity and low concerns) (p = 0.009). CONCLUSIONS: The majority of patients taking GCs perceived them as necessary, but high concerns about chronic GC use exist. Patients with a poorer knowledge of the factors associated with GC-related AEs and those with a poorer quality of life were the most worried about these compounds. Experimental studies assessing the efficacy of educational programmes aiming to increase the adherence to GC therapy should be planned in these patients.


Asunto(s)
Glucocorticoides/uso terapéutico , Conocimientos, Actitudes y Práctica en Salud , Cumplimiento de la Medicación , Esclerodermia Sistémica/tratamiento farmacológico , Adulto , Anciano , Estudios de Cohortes , Femenino , Humanos , Masculino , Persona de Mediana Edad , Calidad de Vida , Índice de Severidad de la Enfermedad , Encuestas y Cuestionarios
8.
Infection ; 41(4): 859-62, 2013 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-23543435

RESUMEN

Toxoplasmosis, a worldwide zoonosis caused by a coccidian parasite Toxoplasma gondii, is more often asymptomatic in immunocompetent patients. We report the case of a 38-year-old immunocompetent male with a polymyositis as the presenting manifestation of T. gondii infection. The patient was hospitalized for a 30-day history of fever (T max 39.5°C), muscle pain, and progressive weakness of the muscles. A diagnosis of polymyositis was made, and he was started on corticosteroid treatment, which caused no reduction of symptoms. After finding a positive polymerase chain reaction (PCR) assay for T. gondii, together with additional clinical findings, a diagnosis of acute toxoplasmosis was made. Specific treatment with pyrimethamine and sulfadiazine was started, with a progressive reduction of symptoms and normalization of laboratory tests.


Asunto(s)
Polimiositis/etiología , Polimiositis/patología , Toxoplasma/aislamiento & purificación , Toxoplasmosis/complicaciones , Toxoplasmosis/diagnóstico , Adulto , Antiprotozoarios/uso terapéutico , Humanos , Masculino , Polimiositis/tratamiento farmacológico , Polimiositis/parasitología , Pirimetamina/uso terapéutico , Sulfadiazina/uso terapéutico , Toxoplasmosis/tratamiento farmacológico , Toxoplasmosis/parasitología , Resultado del Tratamiento
9.
Data Brief ; 48: 109105, 2023 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-37095754

RESUMEN

The data presented in this article are related to the research paper entitled "Observation of night-time emissions of the Earth in the near UV range from the International Space Station with the Mini-EUSO detector" (Remote Sensing of Environment, Volume 284, January 2023, 113336, https://doi.org/10.1016/j.rse.2022.113336). The data have been acquired with the Mini-EUSO detector, an UV telescope operating in the range 290-430 nm and located inside the International Space Station. The detector was launched in August 2019, and it has started operations from the nadir-facing UV-transparent window in the Russian Zvezda module in October 2019. The data presented here refer to 32 sessions acquired between 2019-11-19 and 2021-05-06. The instrument consists of a Fresnel-lens optical system and a focal surface composed of 36 multi-anode photomultiplier tubes, each with 64 channels, for a total of 2304 channels with single photon counting sensitivity. The telescope, with a square field-of-view of 44°, has a spatial resolution on the Earth surface of 6.3 km and saves triggered transient phenomena with a temporal resolution of 2.5 µs and 320 µs. The telescope also operates in continuous acquisition at a 40.96 ms scale. In this article, large-area night-time UV maps obtained processing the 40.96 ms data, taking averages over regions of some specific geographical areas (e.g., Europe, North America) and over the entire globe, are presented. Data are binned into 0.1° × 0.1° or 0.05° × 0.05° cells (depending on the scale of the map) over the Earth's surface. Raw data are made available in the form of tables (latitude, longitude, counts) and .kmz files (containing the .png images). These are - to the best of our knowledge - the highest sensitivity data in this wavelength range and can be of use to various disciplines.

10.
Arthritis Rheum ; 63(4): 1097-105, 2011 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-21162102

RESUMEN

OBJECTIVE: The nonsynonymous polymorphism rs763361 of the CD226 gene, which encodes DNAX accessory molecule 1, which is involved in T cell costimulation pathways, has recently been identified as a genetic risk factor for autoimmunity. The purpose of this study was to test for association of the CD226 rs763361 polymorphism with systemic sclerosis (SSc) in European Caucasian populations. METHODS: CD226 rs763361 was genotyped in 3,632 individuals, consisting of a discovery sample (991 SSc patients and 1,008 controls) and a replication sample (999 SSc patients and 634 controls). All study subjects were of European Caucasian origin. Expression of CD226 was assessed on peripheral blood mononuclear cells obtained from 21 healthy donors genotyped for CD226 rs763361. RESULTS: The CD226 rs763361 T allele was found to be associated with SSc in both the discovery and the replication samples, showing the following results in the combined populations: odds ratio (OR) 1.22 (95% confidence interval [95% CI] 1.10-1.34), P = 5.69 × 10(-5) . The CD226 T allele was also associated with various SSc subsets, highlighting a potential contribution to disease severity. The most remarkable associations of the CD226 TT risk genotype were observed with the diffuse cutaneous SSc subtype, the anti-topoisomerase I antibody-positive, and SSc-related fibrosing alveolitis subsets: OR 1.86 (95% CI 1.42-2.43), P = 5.15 × 10(-6) , OR 1.82 (95% CI 1.38-2.40), P = 2.16 × 10(-5) , and OR 1.61 (95% CI 1.25-2.08), P = 2.73 × 10(-4) , respectively. CD226 expression was not significantly influenced by CD226 rs763361 genotypes whatever the T cell subtype investigated. CONCLUSION: Our results establish CD226 as a new SSc genetic susceptibility factor underlying the contribution of costimulation pathways in the pathogenesis of SSc. Further work is nevertheless needed to define the causal variant at the CD226 locus as well as the functional consequences.


Asunto(s)
Antígenos de Diferenciación de Linfocitos T/genética , Predisposición Genética a la Enfermedad/genética , Polimorfismo Genético/genética , Esclerodermia Sistémica/etnología , Esclerodermia Sistémica/genética , Adulto , Anciano , Estudios de Casos y Controles , Femenino , Francia , Genotipo , Alemania , Humanos , Italia , Masculino , Persona de Mediana Edad , Factores de Riesgo , Esclerodermia Sistémica/patología , Linfocitos T/patología , Población Blanca/genética
11.
Ann Rheum Dis ; 70(3): 476-81, 2011 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-21081523

RESUMEN

OBJECTIVE: To identify a core set of preliminary items considered as important for the very early diagnosis of systemic sclerosis (SSc). METHODS: A list of items provided by European League Against Rheumatism (EULAR) Scleroderma Trial and Research(EUSTAR) centres were subjected to a Delphi exercise among 110 experts in the field of SSc. In round 1, experts were asked to choose the items they considered as the most important for the very early diagnosis of SSc. In round 2, experts were asked to reconsider the items accepted after the first stage. In round 3, the clinical relevance of selected items and their importance as measures that would lead to an early referral process were rated using appropriateness scores. RESULTS: Physicians from 85 EUSTAR centres participated in the study and provided an initial list of 121 items. After three Delphi rounds, the steering committee, with input from external experts, collapsed the 121 items into three domains containing seven items, developed as follows: skin domain (puffy fingers/puffy swollen digits turning into sclerodactily); vascular domain (Raynaud's phenomenon, abnormal capillaroscopy with scleroderma pattern) and laboratory domain (antinuclear, anticentromere and antitopoisomerase-I antibodies). Finally, the whole assembly of EUSTAR centres ratified with a majority vote the results in a final face-to-face meeting. CONCLUSION: The three Delphi rounds allowed us to identify the items considered by experts as necessary for the very early diagnosis of SSc. The validation of these items to establish diagnostic criteria is currently ongoing in a prospective observational cohort.


Asunto(s)
Esclerodermia Sistémica/diagnóstico , Anticuerpos Antinucleares/sangre , Técnica Delphi , Diagnóstico Diferencial , Diagnóstico Precoz , Edema/etiología , Dedos , Humanos , Angioscopía Microscópica , Enfermedad de Raynaud/etiología , Esclerodermia Sistémica/complicaciones , Esclerodermia Sistémica/inmunología , Enfermedades de la Piel/etiología
12.
Ann Rheum Dis ; 70(10): 1788-92, 2011 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-21784727

RESUMEN

OBJECTIVE: Systemic sclerosis (SSc) is associated with a significant reduction in life expectancy. A simple prognostic model to predict 5-year survival in SSc was developed in 1999 in 280 patients, but it has not been validated in other patients. The predictions of a prognostic model are usually less accurate in other patients, especially from other centres or countries. A study was undertaken to validate the prognostic model to predict 5-year survival in SSc in other centres throughout Europe. METHODS: A European multicentre cohort of patients with SSc diagnosed before 2002 was established. Patients with SSc according to the preliminary American College of Rheumatology classification criteria were eligible for the study when they were followed for at least 5 years or shorter if they died. The primary outcome was 5-year survival after diagnosis of SSc. The predefined prognostic model uses the following baseline variables: age, gender, presence of urine protein, erythrocyte sedimentation rate (ESR) and carbon monoxide diffusing capacity (DLCO). RESULTS: Data were available for 1049 patients, 119 (11%) of whom died within 5 years after diagnosis. Of the patients, 85% were female, the mean (SD) age at diagnosis was 50 (14) years and 30% were classified as having diffuse cutaneous SSc. The prognostic model with age (OR 1.03), male gender (OR 1.93), urine protein (OR 2.29), elevated ESR (1.89) and low DLCO (OR 1.94) had an area under the receiver operating characteristic curve of 0.78. Death occurred in 12 (2.2%) of 509 patients with no risk factors, 45 (13%) of 349 patients with one risk factor, 55 (33%) of 168 patients with two risk factors and 7 (30%) of 23 patients with three risk factors. CONCLUSION: A simple prognostic model using three disease factors to predict 5-year survival at diagnosis in SSc showed reasonable performance upon validation in a European multicentre study.


Asunto(s)
Esclerodermia Sistémica/mortalidad , Adulto , Factores de Edad , Anciano , Sedimentación Sanguínea , Métodos Epidemiológicos , Europa (Continente)/epidemiología , Femenino , Humanos , Masculino , Persona de Mediana Edad , Pronóstico , Proteinuria/etiología , Proteinuria/mortalidad , Capacidad de Difusión Pulmonar , Esclerodermia Sistémica/complicaciones , Esclerodermia Sistémica/diagnóstico , Factores Sexuales
13.
Int J Immunopathol Pharmacol ; 24(3): 695-702, 2011.
Artículo en Inglés | MEDLINE | ID: mdl-21978701

RESUMEN

Most autoinflammatory disorders typically come out in the pediatric population, although a limited number of patients may experience disease onset during adulthood. To date, a late disease onset has been described only in familial Mediterranean fever, caused by mutations in the MEFV gene, and in tumor necrosis factor receptor-associated periodic syndrome, caused by mutations in the TNFRSF1A gene. The relative rarity and lack of information on adult-onset autoinflammatory diseases make it likely that mutations will be found in an even smaller percentage of cases. With the aim of improving the genetic diagnosis in adults with suspected autoinflammatory disorders, we recently identified a set of variables related to the probability of detecting gene mutations in MEFV and TNFRSF1A and, in addition, we have also proposed a diagnostic score for identifying those patients at high risk of carrying mutations in these genes. In the present study we evaluated the preliminary score sensitivity and specificity on a wider number of patients in order to validate the goodness of fit of the model. Two hundred and nineteen consecutive patients with a clinical history of periodic fever attacks were screened for mutations in MEFV and TNFRSF1A genes; detailed information about family/personal history and clinical manifestations were also collected. For the validation of the score we considered data both from the 110 patients used to build the preliminary diagnostic score and from the additional 219 patients enrolled in the present study, for a total number of 329 patients. Early age at disease onset, positive family history for recurrent fever episodes, thoracic pain, abdominal pain and skin rash, which are the variables that had previously been shown to be significantly associated with a positive genetic test result (12), were used for validation. On univariate analysis the associations with a positive genetic test were: age at onset (odds ratio [OR] 0.43, p=0.003), positive family history for recurrent fever episodes (OR 5.81, p<0.001), thoracic pain (OR 3.17, p<0.001), abdominal pain (OR 3.80, p<0.001) and skin rash (OR 1.58, p=0.103). The diagnostic score was calculated using the linear combination of the estimated coefficients of the logistic multivariate model (cut-off equals to 0.24) revealing good sensitivity (0.778) and good specificity (0.718). In conclusion, our score may serve in the diagnostic evaluation of adult patients presenting with recurrent fever episodes suspected of having an autoinflammatory disorder, helping identify the few subjects among them who may be carriers of mutations in MEFV and TNFRSF1A genes.


Asunto(s)
Enfermedades Autoinflamatorias Hereditarias/diagnóstico , Adolescente , Adulto , Edad de Inicio , Anciano , Niño , Preescolar , ADN/biosíntesis , ADN/genética , Análisis Mutacional de ADN , Femenino , Amplificación de Genes , Predisposición Genética a la Enfermedad , Heterocigoto , Humanos , Lactante , Modelos Logísticos , Masculino , Curvas de Flujo-Volumen Espiratorio Máximo/genética , Persona de Mediana Edad , Modelos Biológicos , Oportunidad Relativa , Curva ROC , Receptores Tipo I de Factores de Necrosis Tumoral/genética , Reproducibilidad de los Resultados , Población Blanca , Adulto Joven
14.
Arthritis Rheum ; 62(10): 3093-100, 2010 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-20556823

RESUMEN

OBJECTIVE: Pulmonary arterial hypertension (PAH) has emerged as a leading cause of death in systemic sclerosis (SSc). The genetic basis of PAH has been unraveled in recent years, with a major role played by transforming growth factor ß receptors; however, some other candidate genes have also been advocated, including potassium voltage-gated channel, shaker-related subfamily, member 5 (KCNA5). We undertook this study to determine whether KCNA5 polymorphisms confer susceptibility to SSc and its vascular phenotype, including PAH. METHODS: Four KCNA5 single-nucleotide polymorphisms (SNPs), rs10744676, rs1860420, rs3741930, and rs2284136, were genotyped in a discovery set of 638 SSc patients and 469 controls. In addition, rs10744676 was genotyped in an independent replication sample (938 SSc patients and 564 controls) and in a cohort of 168 patients with different PAH subtypes. RESULTS: The KCNA5 rs10744676 variant was found to be associated with SSc in the discovery sample, with an odds ratio (OR) of 0.62 (95% confidence interval [95% CI] 0.48-0.79, adjusted P = 0.0003) in comparison with controls (C allele frequency 11.4% versus 17.2%). When subphenotypes were investigated, an association was found solely for PAH associated with SSc (OR 0.31 [95% CI 0.13-0.71], adjusted P = 0.04). The other KCNA5 SNPs tested were not associated with any SSc subset. The above association with PAH associated with SSc was replicated in the second set. In the combined population, rs10744676 was strongly associated with PAH associated with SSc in comparison with controls (OR 0.36 [95% CI 0.21-0.63], P = 0.0002). In the independent cohort of patients with PAH, after investigating PAH subtypes, only rs10744676 showed an association with PAH associated with SSc. CONCLUSION: Our results provide the first evidence for an association between the KCNA5 rs10744676 variant and PAH associated with SSc.


Asunto(s)
Hipertensión Pulmonar/complicaciones , Hipertensión Pulmonar/genética , Canal de Potasio Kv1.5/genética , Polimorfismo de Nucleótido Simple , Esclerodermia Sistémica/complicaciones , Esclerodermia Sistémica/genética , Población Blanca/genética , Adulto , Anciano , Estudios de Casos y Controles , Europa (Continente) , Femenino , Predisposición Genética a la Enfermedad/genética , Humanos , Masculino , Persona de Mediana Edad , Oportunidad Relativa
15.
Scand J Rheumatol ; 39(6): 485-9, 2010 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-20604675

RESUMEN

OBJECTIVE: To investigate the prevalence of clinical and subclinical atherosclerosis in systemic sclerosis (SSc) patients and its associated features. METHODS: Fifty unselected SSc patients and 41 controls, matched for sex and age, were investigated for previous cardiovascular events, cardiovascular risk factors, and ultrasonographic features of subclinical atherosclerosis in the carotid arteries, that is intima-media thickness (IMT) > 0.9 mm or plaques. SSc patients were also investigated for disease features and previous treatment. Finally, blood samples were randomly selected from 27 patients and 18 controls to evaluate concentrations of amino-terminal propeptide of type III procollagen (PIIINP), transforming growth factor (TGF)-ß, hepatocyte growth factor (HGF), soluble interleukin-2 receptor (sIL-2R), IL-13, E-selectin, intercellular adhesion molecule (ICAM)-1, plasminogen activator inhibitor (PAI)-1, tissue plasminogen activator (t-PA), D-dimer, and prothrombin fragments (F1+2). RESULTS: Previous cardiovascular events were recorded in three SSc patients and no controls (p > 0.05). Mean IMT (0.613 ± 0.240 vs. 0.654 ± 0.173 mm) did not differ between patients and controls (p > 0.05), but subclinical atherosclerosis was detected in 14/50 SSc patients and 4/41 controls (p = 0.036). At multiple logistic regression analysis, mean IMT was correlated with older age [p = 0.006; odds ratio (OR) 1.276, 95% confidence interval (CI) 1.043-1.516] and a higher cumulative corticosteroid intake (p = 0.017; OR 1.155, 95% CI 1.027-1.300). No correlation was found with any soluble marker of disease activity and of coagulation/fibrinolysis system activation. CONCLUSION: Our study confirms an increased prevalence of subclinical atherosclerosis in SSc patients and demonstrates a hitherto unknown association with corticosteroid cumulative dosage.


Asunto(s)
Corticoesteroides/efectos adversos , Aterosclerosis/epidemiología , Prednisolona/efectos adversos , Esclerodermia Sistémica/tratamiento farmacológico , Esclerodermia Sistémica/epidemiología , Corticoesteroides/administración & dosificación , Adulto , Aterosclerosis/sangre , Aterosclerosis/inducido químicamente , Enfermedades de las Arterias Carótidas/sangre , Enfermedades de las Arterias Carótidas/inducido químicamente , Enfermedades de las Arterias Carótidas/epidemiología , Colágeno Tipo III/sangre , Selectina E/sangre , Femenino , Productos de Degradación de Fibrina-Fibrinógeno/análisis , Factor de Crecimiento de Hepatocito/sangre , Humanos , Inmunosupresores/uso terapéutico , Molécula 1 de Adhesión Intercelular/sangre , Interleucina-13/sangre , Masculino , Persona de Mediana Edad , Fragmentos de Péptidos/sangre , Inhibidor 1 de Activador Plasminogénico/sangre , Prednisolona/administración & dosificación , Prevalencia , Precursores de Proteínas/sangre , Protrombina , Receptores de Interleucina-2/sangre , Esclerodermia Sistémica/sangre , Activador de Tejido Plasminógeno/sangre , Factores de Crecimiento Transformadores/sangre , Túnica Íntima/patología , Adulto Joven
16.
Scand J Rheumatol ; 39(4): 330-5, 2010 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-20476863

RESUMEN

OBJECTIVES: To investigate the prevalence of impaired exercise performance as assessed by a standardized cardiopulmonary exercise test (CPET) in systemic sclerosis (SSc) and to identify the associated disease features. METHODS: Forty-six SSc patients were enrolled and evaluated for clinical and serological SSc subset, extent of skin and internal organ involvement, and disease activity and severity. Exercise performance was subsequently evaluated in these patients and in 23 healthy individuals matched for sex and age, using a standardized CPET. RESULTS: Exercise performance, measured by maximum oxygen uptake (VO2 max < 80% of predicted value), was found to be impaired in 43/46 patients. Stepwise regression analysis showed that VO2 max adjusted for body weight VO2 max/kg) was independently correlated with the severity of heart (p = 0.001) and lung (p = 0.013) involvement, left ventricular diastolic dysfunction (p = 0.009), and the Health Assessment Questionnaire Disability Index (HAQ-DI) score (p = 0.016). CONCLUSIONS: This study demonstrates that physical disability contributes significantly to the development of impaired exercise performance in SSc patients. Cardiopulmonary exercise testing may be included among the battery of tests used to determine the severity of SSc.


Asunto(s)
Tolerancia al Ejercicio/fisiología , Ejercicio Físico/fisiología , Esclerodermia Sistémica/fisiopatología , Adulto , Anciano , Evaluación de la Discapacidad , Prueba de Esfuerzo , Femenino , Estado de Salud , Humanos , Masculino , Persona de Mediana Edad , Consumo de Oxígeno/fisiología , Índice de Severidad de la Enfermedad , Estadísticas no Paramétricas
17.
Reumatismo ; 62(3): 202-9, 2010.
Artículo en Italiano | MEDLINE | ID: mdl-21052567

RESUMEN

OBJECTIVE: To investigate survival in Italian systemic sclerosis (SSc) patients from a tertiary center, reporting death causes. MATERIALS AND METHODS: We analyzed the charts of 251 SSc patients prospectively enrolled in our Rheumatology Unit from 2000 to 2008. Baseline characteristics were recorded. In 2008 the vital status and the causes of death were assessed. Overall and subgroup survival were analyzed by the Kaplan-Meier method and the log-rank test. RESULTS: In 2008, 82% of patients were alive, 8% were known to have died and 10% were lost to follow-up. Overall 5- and 8-year survival were 94.8% and 77.1%, respectively. Patients with an age greater than the median value of the cohort (χ²=4.4; p=0.036), diffuse cutaneous SSc (χ²=3.9; p=0.048), digital ulcers (χ²=6; p=0.015), articular (χ²=5.3; p=0.021), lung (χ²=5.6; p=0.018) and heart involvement (χ²=9.3; p=0.002) had a poorer survival than patients without these features. The majority of SSc-related deaths (60%) were secondary to interstitial lung disease and heart involvement (both 33.3%); 50% of non-SSc-related deaths were due to cancer. CONCLUSIONS: Our study reports an improvement in survival of Italian SSc patients during the last decade with respect to the previous ones. Moreover, a reduction in deaths from renal involvement and an increase in deaths from interstitial lung disease were recorded in Italian SSc patients. Our data are consistent with those from recent survival studies carried out on SSc patients from other geographic areas.


Asunto(s)
Causas de Muerte , Esclerodermia Sistémica/epidemiología , Adolescente , Adulto , Anciano , Niño , Estudios de Cohortes , Comorbilidad , Femenino , Cardiopatías/mortalidad , Departamentos de Hospitales , Hospitales Universitarios/estadística & datos numéricos , Humanos , Italia/epidemiología , Enfermedades Renales/mortalidad , Enfermedades Pulmonares Intersticiales/mortalidad , Masculino , Persona de Mediana Edad , Mortalidad/tendencias , Reumatología , Factores de Riesgo , Esclerodermia Sistémica/mortalidad , Análisis de Supervivencia , Adulto Joven
18.
Reumatismo ; 62(1): 34-45, 2010.
Artículo en Italiano | MEDLINE | ID: mdl-20390116

RESUMEN

OBJECTIVE: To develop a set of national evidence-based recommendations for the use of Methotrexate (MTX) in daily clinical practice. METHODS: A panel of 37 Italian Rheumatologists reviewed 10 international recommendations formulated during the "3E (Evidence, Expertise, Exchange) initiative" for the year 2007-8, following a systematic literature search in Medline, Embase, Cochrane Library, and 2005-7 American College of Rheumatology/European League Against Rheumatism meeting abstracts and the revision of selected papers and the appraisal of Oxford levels of evidence. Moreover, the same panel by the same methodology formulated further 5 recommendations on topics previously selected by Italian representatives to 3E initiative. The agreement about the set of proposed recommendations was stated by a consensus process and the potential impact on clinical practice was assessed. RESULTS: International Recommendations were analysed and changed when appropriate. In addition, 5 national recommendations were developed by identifying 6371 references, selecting and evaluating the 29 ones satisfying Evidence Based Medicine principles. CONCLUSIONS: A set of 15 national recommendations for the use of MTX in daily clinical practice was developed. These recommendations are evidence-based and integrate the expertise of a large panel of Italian rheumatologists.


Asunto(s)
Antirreumáticos , Artritis Reumatoide , Consenso , Metotrexato , Enfermedades Reumáticas , Humanos , Antirreumáticos/administración & dosificación , Antirreumáticos/uso terapéutico , Artritis Reumatoide/tratamiento farmacológico , Ensayos Clínicos Controlados como Asunto , Técnica Delphi , Italia , Metaanálisis como Asunto , Metotrexato/uso terapéutico , Enfermedades Reumáticas/tratamiento farmacológico
19.
Sci Rep ; 10(1): 11627, 2020 07 15.
Artículo en Inglés | MEDLINE | ID: mdl-32669579

RESUMEN

The effect of elicitors on secondary metabolism in vines is receiving much interest, since it has been shown that they are able to increase the accumulation of phenolics, especially anthocyanins. This research aims to investigate the biochemical and molecular effects of the application of a commercial yeast derivative (Saccharomyces cerevisiae) on the accumulation of anthocyanins in potted Sangiovese vines. Experiments were performed on three consecutive years and the yeast derivative was applied at the beginning and at the end of veraison. Technological ripening, accumulation of anthocyanins and expression of the main genes involved in their biosynthesis were assessed. Technological ripening proceeded in a similar way in both treated and untreated berries in the three years. A significant increase in the concentration of anthocyanins was instead detected, following the induction by the yeast derivative of the expression of the genes involved in their biosynthesis. The research highlights the possibility of applying a specific inactivated yeast to increase the anthocyanin concentration even under the current climate change conditions, in Sangiovese, a cultivar extremely sensitive to high temperatures.


Asunto(s)
Antocianinas/biosíntesis , Regulación de la Expresión Génica de las Plantas , Hojas de la Planta/efectos de los fármacos , Saccharomyces cerevisiae , Vitis/genética , Agricultura/métodos , Cromatografía Líquida de Alta Presión , Frutas/química , Perfilación de la Expresión Génica , Fenoles/química , Temperatura , Vitis/metabolismo , Vino/análisis
20.
PLoS One ; 15(6): e0235215, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-32598372

RESUMEN

Anthracnose (ANT) and angular leaf spot (ALS) caused by Colletotrichum lindemuthianum and Pseudocercospora griseola, respectively, are devastating diseases of common bean around the world. Therefore, breeders are constantly searching for new genes with broad-spectrum resistance against ANT and ALS. This study aimed to characterize the genetic resistance of California Dark Red Kidney (CDRK) to C. lindemuthianum races 73, 2047, and 3481 and P. griseola race 63-39 through inheritance, allelism testing, and molecular analyses. Genetic analysis of response to ANT and ALS in recombinant inbred lines (RILs) from a CDRK × Yolano cross (CY) showed that the resistance of CDRK cultivar is conferred by a single dominant loci, which we named CoPv01CDRK/PhgPv01CDRK. Allelism tests performed with race 3481showed that the resistance gene in CDRK is independent of the Co-1 and Co-AC. We conducted co-segregation analysis in genotypes of 110 CY RILs and phenotypes of the RILs in response to different races of the ANT and ALS pathogens. The results revealed that CoPv01CDRK and PhgPv01CDRK are coinherited, conferring resistance to all races. Genetic mapping of the CY population placed the CoPv01CDRK/PhgPv01CDRK loci in a 245 Kb genomic region at the end of Pv01. By genotyping 19 RILs from the CY population using three additional markers, we fine-mapped the CoPv01CDRK/PhgPv01CDRK loci to a smaller genomic region of 33 Kb. This 33 Kb region harbors five predicted genes based on the common bean reference genome. These results can be applied in breeding programs to develop bean cultivars with ANT and ALS resistance using marker-assisted selection.


Asunto(s)
Colletotrichum/fisiología , Resistencia a la Enfermedad/genética , Genes de Plantas , Ligamiento Genético , Marcadores Genéticos , Phaseolus/genética , Enfermedades de las Plantas/genética , California , Mapeo Cromosómico , Genotipo , Phaseolus/microbiología , Fenotipo , Enfermedades de las Plantas/microbiología
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