Trans-esophageal endobronchial ultrasound-guided needle aspiration (EUS-B-NA) : a road map for the chest physician

The endobronchial ultrasound (EBUS) scope has been increasingly used in the gastrointestinal tract (EUS-B). Scientific data proves its efficacy and safety to provide a complete lung cancer staging, when combined with EBUS-TBNA, and in the diagnosis of para-esophageal lesions. There are multiple barriers to start performing EUS-B but probably the most important ones are related to knowledge and training, so new operators should follow a structured training curriculum. This review aims to reflect the best current knowledge regarding EUS-B and provide a road map to assist those who are incorporating the technique into their clinical practice

Systematic Review of Health Economic Evaluations of Diagnostic Tests in Brazil: How accurate are the results?

The aim of this study is to identify and characterize the health economic evaluations (HEEs) of diagnostic tests conducted in Brazil, in terms of their adherence to international guidelines for reporting economic studies and specific questions in test accuracy reports. We systematically searched multiple databases, selecting partial and full HEEs of diagnostic tests, published between 1980 and 2013. Two independent reviewers screened articles for relevance and extracted the data. We performed a qualitative narrative synthesis. Forty-three articles were reviewed. The most frequently studied diagnostic tests were laboratory tests (37.2%) and imaging tests (32.6%). Most were non-invasive tests (51.2%) and were performed in the adult population (48.8%). The intended purposes of the technologies evaluated were mostly diagnostic (69.8%), but diagnosis and treatment and screening, diagnosis, and treatment accounted for 25.6% and 4.7%, respectively. Of the reviewed studies, 12.5% described the methods used to estimate the quantities of resources, 33.3% reported the discount rate applied, and 29.2% listed the type of sensitivity analysis performed. Among the 12 cost-effectiveness analyses, only two studies (17%) referred to the application of formal methods to check the quality of the accuracy studies that provided support for the economic model. The existing Brazilian literature on the HEEs of diagnostic tests exhibited reasonably good performance. However, the following points still require improvement: 1) the methods used to estimate resource quantities and unit costs, 2) the discount rate, 3) descriptions of sensitivity analysis methods, 4) reporting of conflicts of interest, 5) evaluations of the quality of the accuracy studies considered in the cost-effectiveness models, and 6) the incorporation of accuracy measures into sensitivity analyses

Field-effect transistor with a plasmonic fiber optic gate electrode as a multivariable biosensor device

A novel multivariable system, combining a transistor with fiber optic-based surface plasmon resonance spectroscopy with the gate electrode simultaneously acting as the fiber optic sensor surface, is reported. The dual-mode sensor allows for discrimination of mass and charge contributions for binding assays on the same sensor surface. Furthermore, we optimize the sensor geometry by investigating the influence of the fiber area to transistor channel area ratio and distance. We show that larger fiber optic tip diameters are favorable for electronic and optical signals and demonstrate the reversibility of plasmon resonance wavelength shifts after electric field application. As a proof of principle, a layer-by-layer assembly of polyelectrolytes is performed to benchmark the system against multivariable sensing platforms with planar surface plasmon resonance configurations. Furthermore, the biosensing performance is assessed using a thrombin binding assay with surface-immobilized aptamers as receptors, allowing for the detection of medically relevant thrombin concentrations

Assessing social, emotional, and intercultural competences of students and school staff. A systematic literature review

The inclusion of social, emotional, and intercultural competences (SEI) in academic contexts has been supported by international organizations, such as the European Union, the United Nations, and the OECD, since the early 2000s. However, little information is yet available regarding the assessment of these competences. This paper shares the findings of a systematic literature review that produced an inventory of existing tools for the assessment of SEI competences of students and school staff. This is the first time assessment tools for these three competences have been concurrently reviewed. An interdisciplinary and international research team conducted this systematic literature review in the databases of ERIC, PsycInfo, PSYNDEX, Scopus, and Web of Science. Out of 13,963 articles, 149 assessment tools were examined and processed. In addition to the instrument analysis and a detailed description of the procedure, this article shows the basic theoretical concepts, as well as the limitations, of such a review. It was found that 1) the majority of the discovered instruments rely on self-reported survey and inventory data, 2) of the three competences, intercultural competence had the fewest relevant instruments, and 3) very few tools have been created to assess all three competences together. From this review, it is apparent that a wider variety of assessment tools (other than self-reports), as well as more comprehensive tools (e.g. qualitative analysis of vignettes) for the assessment of all three SEI competences, should be developed to meet international demand. The results of the literature review are available and freely accessible in the form of an assessment catalogue. (DIPF/Orig.

HIV infection and related risk behaviors in a community of recyclable waste collectors of Santos, Brazil

OBJETIVO: Estimar la seroprevalencia de HIV, Hepatitis B y C y sífilis y describir los comportamientos de riesgo asociados a la transmisión entre colectores autónomos de basura. MÉTODOS: Se realizó una investigación seroepidemiológica en la ciudad de Santos (Sudeste de Brasil), en 2005. Se realizaron análisis serológicas para HIV, Hepatitis B y C y sífilis a 253 individuos, de un total de 315 incluidos en el estudio. Los análisis estadísticos consistieron de pruebas uni y bivariadas (tabulación cruzada y odds ratio) y análisis multivariada (por regresión logística), relacionando la infección por HIV con los factores de riesgo establecidos y la seropositividad. RESULTADOS: Las seroprevalencias totales fueron: HIV, 8,9%; Hepatitis B, 34,4%; Hepatitis C, 12,4%; y sífilis, 18,4%. La muestra estuvo caracterizada por la predominancia de individuos del sexo masculino, con bajos niveles económicos y educacionales y sujetos a exposición parenteral y sexual al HIV y otras enfermedades transmisibles sexualmente. Los resultados del análisis multivariado indicaron que factores de riesgo unidos tanto a la exposición sexual como a la parenteral están significativamente asociados al HIV en esta comunidad. CONCLUSIONES: Las seroprevalencias encontradas en el estudio fueron aproximadamente 10 a 12 veces mayores que el promedio nacional. Estas comunidades son socialmente marginalizadas y generalmente no reconocidas por los programas nacionales como poblaciones de riesgo potencial.OBJETIVO: Estimar a soroprevalência de HIV, Hepatites B e C e sífilis e descrever os comportamentos de risco associados à sua transmissão entre coletores autônomos de lixo. MÉTODOS: Um inquérito soroepidemiológico foi conduzido na cidade de Santos (SP), em 2005. Um total de 315 indivíduos foi incluído no estudo, dos quais 253 submeteram-se a testes sorológicos para HIV, Hepatites B e C e sífilis. A análise estatística consistiu de análises uni e bivariadas (tabulação cruzada e odds ratio) e análise multivariada (por regressão logística), relacionando a infecção por HIV com os fatores de risco estabelecidos e soropositividade. RESULTADOS: As soroprevalências totais foram: HIV, 8,9%; Hepatite B, 34,4%; Hepatite C, 12,4%; e sífilis, 18,4%. A amostra foi caracterizada por predominância de indivíduos do sexo masculino, com baixos níveis econômicos e educacionais e sujeitos a exposição parenteral e sexual ao HIV e outras doenças sexualmente transmissíveis. Os resultados da análise multivariada indicaram que fatores de risco ligados tanto à exposição sexual quanto à parenteral estão significativamente associados ao HIV nesta comunidade. CONCLUSÕES: As soroprevalências encontradas no estudo foram aproximadamente 10 a 12 vezes maiores que a média nacional. Estas comunidades são socialmente marginalizadas e geralmente não reconhecidas pelos programas nacionais como populações de risco potencial.OBJECTIVE: To estimate the seroprevalence of HIV, hepatitis B and C and syphilis and to describe risk behaviors associated to their transmission among recyclable waste collectors. METHODS: A seroepidemiological survey was carried out in the city of Santos, Southeastern Brazil, in 2005. A total of 315 individuals were enrolled in the survey, of which 253 subjects underwent serological testing HIV, hepatitis B and C and syphilis. Statistical analysis consisted of univariate and bivariate analyses (cross-tabulation and odds ratio) and multivariate analysis (by logistic regression), relating HIV infection with established risk behaviors and seropositivity. RESULTS: Overall seroprevalences were: HIV, 8.9%; hepatitis B, 34.4%; hepatitis C, 12.4%; and syphilis, 18.4%. Subjects were characterized by a predominance of males with low educational and economic levels, subjected to parenteral and sexual exposures to HIV and other sexually transmitted infections. Multivariate analysis results indicated that risk factors for both sexually and parenterally related exposure were significantly associated with HIV in this community. CONCLUSIONS: Seroprevalences found in the study were approximately 10 to 12 times higher than the national average. These communities are socially marginalized and generally not recognized by national programs as potentially endangered populations

Pubertal presentation in seven patients with congenital adrenal hyperplasia due to P450 Oxidoreductase deficiency

Context: P450 oxidoreductase (POR) is a crucial electron donor to all microsomal P450 cytochrome (CYP) enzymes including 17α-hydroxylase (CYP17A1), 21-hydroxylase (CYP21A2) and P450 aromatase. Mutant POR causes congenital adrenal hyperplasia with combined glucocorticoid and sex steroid deficiency. P450 oxidoreductase deficiency (ORD) commonly presents neonatally, with disordered sex development in both sexes, skeletal malformations, and glucocorticoid deficiency. \ud \ud Objective: The aim of the study was to describe the clinical and biochemical characteristics of ORD during puberty. \ud \ud Design: Clinical, biochemical, and genetic assessment of seven ORD patients (five females, two males) presenting during puberty was conducted. \ud \ud Results: Predominant findings in females were incomplete pubertal development (four of five) and large ovarian cysts (five of five) prone to spontaneous rupture, in some only resolving after combined treatment with estrogen/progestin, GnRH superagonists, and glucocorticoids. Pubertal development in the two boys was more mildly affected, with some spontaneous progression. Urinary steroid profiling revealed combined CYP17A1 and CYP21A2 deficiencies indicative of ORD in all patients; all but one failed to mount an appropriate cortisol response to ACTH stimulation indicative of adrenal insufficiency. Diagnosis of ORD was confirmed by direct sequencing, demonstrating disease-causing POR mutations. \ud \ud Conclusion: Delayed and disordered puberty can be the first sign leading to a diagnosis of ORD. Appropriate testosterone production during puberty in affected boys but manifest primary hypogonadism in girls with ORD may indicate that testicular steroidogenesis is less dependent on POR than adrenal and ovarian steroidogenesis. Ovarian cysts in pubertal girls may be driven not only by high gonadotropins but possibly also by impaired CYP51A1-mediated production of meiosis-activating sterols due to mutant POR

Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients

BACKGROUND: Rubinstein-Taybi Syndrome (RSTS, MIM 180849) is a rare congenital disorder characterized by mental and growth retardation, broad and duplicated distal phalanges of thumbs and halluces, facial dysmorphisms and increased risk of tumors. RSTS is caused by chromosomal rearrangements and point mutations in one copy of the CREB-binding protein gene (CREBBP or CBP) in 16p13.3. To date mutations in CREBBP have been reported in 56.6% of RSTS patients and an average figure of 10% has ascribed to deletions. METHODS: Our study is based on the mutation analysis of CREBBP in 31 Italian RSTS patients using segregation analysis of intragenic microsatellites, BAC FISH and direct sequencing of PCR and RT-PCR fragments. RESULTS: We identified a total of five deletions, two of the entire gene and three, all in a mosaic condition, involving either the 5' or the 3' region. By direct sequencing a total of 14 de novo mutations were identified: 10 truncating (5 frameshift and 5 nonsense), one splice site, and three novel missense mutations. Two of the latter affect the HAT domain, while one maps within the conserved nuclear receptor binding of (aa 1–170) and will probably destroy a Nuclear Localization Signal. Identification of the p.Asn1978Ser in the healthy mother of a patient also carrying a de novo frameshift mutation, questions the pathogenetic significance of the missense change reported as recurrent mutation. Thirteen additional polymorphisms, three as of yet unreported, were also detected. CONCLUSION: A high detection rate (61.3%) of mutations is confirmed by this Italian study which also attests one of the highest microdeletion rate (16%) documented so far

Loss of the Actin Remodeler Eps8 Causes Intestinal Defects and Improved Metabolic Status in Mice

In a variety of organisms, including mammals, caloric restriction improves metabolic status and lowers the incidence of chronic-degenerative diseases, ultimately leading to increased lifespan. Here we show that knockout mice for Eps8, a regulator of actin dynamics, display reduced body weight, partial resistance to age- or diet-induced obesity, and overall improved metabolic status. Alteration in the liver gene expression profile, in behavior and metabolism point to a calorie restriction-like phenotype in Eps8 knockout mice. Additionally, and consistent with a calorie restricted metabolism, Eps8 knockout mice show increased lifespan. The metabolic alterations in Eps8 knockout mice correlated with a significant reduction in intestinal fat absorption presumably caused by a 25% reduction in intestinal microvilli length. Our findings implicate actin dynamics as a novel variable in the determination of longevity. Additionally, our observations suggest that subtle differences in energy balance can, over time, significantly affect bodyweight and metabolic status in mice

Clinico‐biological features and outcome of patients with splenic marginal zone lymphoma with histological transformation

We describe 36 patients with splenic marginal zone lymphoma (SMZL) with transformation (SMZL-T), including 15 from a series of 84 patients with SMZL diagnosed at the Hospital Clinic of Barcelona (HCB) and 21 diagnosed with SMZL-T in other centres. In the HCB cohort, the cumulative incidence of transformation at 5 years was 15%. Predictors for transformation were cytopenias, hypoalbuminaemia, complex karyotype (CK) and both the Intergruppo Italiano Linfomi (ILL) and simplified Haemoglobin, Platelet count, lactate dehydrogenase (LDH) and extrahilar Lymphadenopathy (HPLL)/ABC scores (P < 0·05). The only independent predictor for transformation in multivariate analysis was CK [hazard ratio (HR) 4·025, P = 0·05]. Patients with SMZL-T had a significantly higher risk of death than the remainder (HR 3·89, P < 0·001). Of the 36 patients with SMZL-T, one developed Hodgkin lymphoma and 35 a diffuse large B-cell lymphoma, 71% with a non-germinal centre phenotype. The main features were B symptoms, lymphadenopathy, and high serum LDH. CK was observed in 12/22 (55%) SMZL-T and fluorescence in situ hybridisation detected abnormalities of MYC proto-oncogene, basic helix-loop-helix transcription factor (MYC), B-cell leukaemia/lymphoma 2 (BCL2) and/or BCL6 in six of 14 (43%). In all, 21 patients received immunochemotherapy, six chemotherapy, one radiotherapy and three splenectomy. The complete response (CR) rate was 61% and the median survival from transformation was 4·92 years. Predictors for a worse survival in multivariate analysis were high-risk International Prognostic Index (HR 5·294, P = 0·016) and lack of CR (HR 2·67, P < 0·001)