533 research outputs found

    Coincidence or correlation?

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    Rationale:Multiple Endocrine Neoplasia type 1 (MEN1) is a familial syndrome that results from the disruption of a tumor suppressor protein called MENIN. Its management is challenging, as MEN1 affects different endocrine tissues and predisposes to both benign and malignant tumors. MENIN-deficient cells have recently been recognized to play a role in triggering autoimmunity. Herein, we present a case of MEN1 with multiple endocrine and autoimmune disorders.Patient concerns:A 50 years old female with a 25 years history of complicated nephrolithiasis presented with primary hyperparathyroidism.Diagnoses:Over several decades, she was diagnosed with recurrent primary hyperparathyroidism, autoimmune thyroiditis, multinodular goiter, pernicious anemia, metastatic gastric type 1 neuroendocrine tumor, macroprolactinemia, gonadotropin deficiency, mucosa-associated lymphoid tissue lymphoma of the thyroid gland, positive anti-calcium sensor receptor antibodies, and BRCA 1/2-negative invasive breast cancer. The autoimmune regulator gene was sequenced, but no pathogenic variants were found. Next-generation sequencing revealed both a pathogenic MEN1 mutation and a benign CDC73 gene variant. Familial genetic screening revealed a large kindred with multiple carriers of one or both genetic variants (MEN1 = 19; CDC73 = 7).Interventions:The patient underwent surgical excision of three parathyroid glands, total thyroidectomy and breast tumorectomy plus tamoxifen, and monthly injections of octreotide. The patient and family members with the MEN1 mutation are under a life-long surveillance program for MEN1 prototypic tumors.Outcomes:The patient was stable and alive during a 24-years follow-up period.Lessons:With the present case, the authors highlight a new interplay between MENIN and the immune system, which may have implications for future targeted life-long surveillance and treatment of MEN1 patients.publishersversionpublishe

    Spectral analysis methods for improved resolution and sensitivity: enhancing SPR and LSPR optical fiber sensing

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    Biochemical–chemical sensing with plasmonic sensors is widely performed by tracking the responses of surface plasmonic resonance peaks to changes in the medium. Interestingly, consistent sensitivity and resolution improvements have been demonstrated for gold nanoparticles by analyzing other spectral features, such as spectral inflection points or peak curvatures. Nevertheless, such studies were only conducted on planar platforms and were restricted to gold nanoparticles. In this work, such methodologies are explored and expanded to plasmonic optical fibers. Thus, we study—experimentally and theoretically—the optical responses of optical fiber-doped gold or silver nanospheres and optical fibers coated with continuous gold or silver thin films. Both experimental and numerical results are analyzed with differentiation methods, using total variation regularization to effectively minimize noise amplification propagation. Consistent resolution improvements of up to 2.2× for both types of plasmonic fibers are found, demonstrating that deploying such analysis with any plasmonic optical fiber sensors can lead to sensing resolution improvements.Fundação para a Ciência e Tecnologia | Ref. UIDB/50014/2020Fundação para a Ciência e Tecnologia | Ref. SFRH/BD/130674/2017Fundação para a Ciência e Tecnologia | Ref. CEECIND/00471/2017Xunta de Galicia | Ref. GRC ED431C 2020/09Fundação para a Ciência e Tecnologia | Ref. SFRH/BD/146784/201

    Removal of Paracetamol and Cu2+ from Water by Using Porous Carbons Derived from Agrowastes

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    Publisher Copyright: © 2023 by the authors.Dende and babassu coconuts are largely used in tropical countries, namely in Brazil, for the extraction of oils from kernels. The remaining biowastes are industrially processed to produce porous carbons (PCs). PCs derived from dende and babassu biowastes and produced at an industrial scale have been characterized by textural, chemical, and ecotoxicological parameters. A commercial activated carbon (CC) of mineral origin has been used as a benchmarking material. Although the CC sample presented a higher surface area (SBET = 1083 m2/g), the PCs derived from the biowastes were richer in micropores (Vmicro = 0.25–0.26 cm3/g), while the CC carbon presented wider pore size distribution with a higher mesopore volume (Vmeso = 0.41 cm3/g). All the adsorbents used in this work have shown a non-acute ecotoxic behavior for the bacterium Vibrio fischeri (EC50-30 min > 99% v/v). The adsorbents have been tested for paracetamol and Cu2+ adsorption in mono- and bicomponent solutions. The uptake capacities of paracetamol (qe, 98–123 mg g−1) and Cu2+ (qe, 15–18 mg g−1) from monocomponent solutions were similar to the ones obtained in the bicomponent solutions, indicating no competition or cooperative effects but a site-specific adsorption. This finding represents an advantage for the removal of these adsorbates when present in the same solution as they can be adsorbed under similar rates as in the single systems. Paracetamol adsorption was related to micropore filling, π-π interactions, and H-bonding, whereas Cu2+ removal was attributed to the cation exchange mechanism and complexation to the hydroxyl groups at the carbons’ surface.publishersversionpublishe

    Evaluation of the adsorption potential of biochars prepared from forest and agri-food wastes for the removal of fluoxetine

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    Twelve biochars from forest and agri-food wastes (pruning of Quercus ilex, Eucalyptus grandis, Pinus pinaster, Quercus suber, Malus pumila, Prunus spinosa, Cydonia oblonga, Eriobotrya japonica, Juglans regia, Actinidia deliciosa, Citrus sinensis and Vitis vinifera) were investigated as potential low-cost and renewable adsorbents for removal of a commonly used pharmaceutical, fluoxetine. Preliminary adsorption experiments allowed to select the most promising adsorbents, Quercus ilex, Cydonia oblonga, Eucalyptus, Juglans regia and Vitis vinifera pruning material. They were characterized by proximate, elemental and mineral analysis, thermogravimetric analysis, Fourier transform infrared spectroscopy, determination of specific surface area and pH at the point of zero charge. Batch and equilibrium studies were performed, and the influence of pH was evaluated. The equilibrium was reached in less than 15 min in all systems. The maximum adsorption capacity obtained was 6.41 mg/g for the Eucalyptus biochar, which also demonstrated a good behavior in continuous mode (packed column).Manuela M. Moreira is grateful for the financial support financed by national funds through FCT – Fundação para a Ciência e a Tecnologia, I.P., within the scope of the project CEECIND/02702/2017 and to REQUIMTE/LAQV. The authors are also grateful for the financial support from FCT/MCTES through national funds (UID/QUI/50006/2019), project PTDC/ASP-PES/29547/2017 (POCI-01-0145-FEDER-29547) by FUNCAP and FCT/MCTES with national funds and co-funded by FEDER and to the projects “PTDC/BII-BIO/30884/2017” and WaterJPI/0007/2016 financed by ERA-NET Cofund Water Works 2015. The supply of the vineyard prunings is acknowledged to Sogrape, S.A. and the biochar production to Ibero Massa Florestal.info:eu-repo/semantics/publishedVersio

    Lower lip squamous cell carcinoma in patients with photosensitive disorders : analysis of cases treated at the Brazilian National Cancer Institute (INCA) from 1999 to 2012

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    Lower lip squamous cell carcinoma (LLSCC) is a common malignancy of the head and neck, being mainly a consequence of a chronic exposure to ultraviolet (UV) light solar radiation. Here, we evaluated the clinicopathological profile of patients with photosensitive disorders (xeroderma pigmentosum, lupus erythematosus and albinism) that developed LLSCC. Data from patients who had a diagnosed LLSCC with a prior xeroderma pigmentosum, lupus erythematosus or albinism diagnosis that were treated at INCA from 1999 to 2012 were collected from patients? medical records (n=16). The control group was composed of 68 patients with LLSCC without a medical history of photosensitivity. The clinicopathological data of this study population were collected and the association between these variables was analyzed by Fisher?s exact test. Survival curves were constructed using the Kaplan?Meier method and compared by log-rank test. All statistical analyses were performed using SPSS statistics package. The mean age of patients in the photosensitive and non-photosensitive groups was 42 years and 67 years, respectively (p<0.0001). A previous history of malignant diseases was more common in the photosensitive group (p=0.001). In both groups, most tumors showed a pathological stage I/II disease. Overall and cancer-specific survival were not statistically different. However, disease-free interval showed a significant difference (p=0.01) between the photosensitive and non-photosensitive patients. Photosensitive patients presented LLSCC at earlier age but it usually was not the primary tumor in these patients. Furthermore, a more aggressive pathological behavior was not seen when compared with tumors from non-photosensitive patients. The disease-free interval was lower in photosensitive patients, as expected

    Success in publication by graduate students in psychiatry in Brazil: an empirical evaluation of the relative influence of English proficiency and advisor expertise

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    Abstract\ud \ud Background\ud This study evaluates the success of graduate students in psychiatry in an emerging country, in terms of the quantity and quality of their publication productivity (given by the number of papers and impact factors of the journals in which they publish). We investigated to what extent student proficiency in English and the scientific capabilities of academic advisors predict that success.\ud \ud \ud Methods\ud Our sample comprised 43 master’s and doctoral students in psychiatry (n = 28 and n = 15, respectively) at the University of São Paulo School of Medicine, in São Paulo, Brazil. We collected information about their knowledge of English and the ways in which they wrote their articles to be submitted to periodicals published in English. Multiple regression analyses were carried out in order to investigate the influence English proficiency, h-index of supervisors and use of language editing assistance had on the number and impact of student publications.\ud \ud \ud Results\ud Although 60% of students scored ≥80 (out of 100) on English tests given at admission to the graduate program, 93.09% of the sample used some form of external editing assistance to produce their papers in English. The variables “number of publications” and “impact factor of journals” were significantly related to each other (r = 0.550, p < 0.001). Multiple regression analysis revealed that the impact factor of periodicals where students published their articles as first authors correlated significantly not only with student proficiency in English at admission (p = 0.035), but also with the degree of language editing assistance (p = 0.050) and the h-index of the academic advisor (p = 0.050).\ud \ud \ud Conclusions\ud Albeit relevant, knowledge of English was not the key factor for the publication success of the graduate students evaluated. Other variables (h-index of the advisor and third-party language editing assistance) appear to be also important predictors of success in publication.Article with resources from PROEX/CAPE

    Sudden onset blindness in sickle cell disease: a case report

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    Os autores apresentam o caso clínico de uma criança com doença falciforme, internada por choque séptico com meningite e pneumonia a Streptococcus pneumoniae. No decurso do internamento surgiu amaurose súbita à esquerda e herpes mucocutâ- neo labial. O exame oftalmológico foi sugestivo de oclusão arterial no olho esquerdo e de necrose retiniana viral à direita, pelo que foi instituída terapêutica antiviral e anticoagulante. A evolução clínica e imagiológica foi compatível com necrose retiniana aguda. Verificou-se ligeira melhoria da acuidade visual à direita (6/10) mas persistiu um défice grave da acuidade visual à esquerda (< 1/10). A necrose retiniana aguda é um evento raro em idade pediátrica, cujo diagnóstico diferencial inclui outras causas de amaurose súbita.We report the case of a 7-year-old child with sickle cell disease, admitted with Streptococcus pneumoniae sep - tic shock, meningitis and pneumonia. During hospital stay he complained of sudden left eye blindness, and mucocutaneous labial herpes was simultaneously no- ted. The ophthalmological evaluation suggested left eye arteriolar occlusion and right eye acute retinal necrosis. Antiviral and anticoagulant therapy was started. Clinical and imaging evolution were compatible with acute reti - nal necrosis. Slight improvement of visual acuity was seen in the right eye (6/10) but visual loss persisted in the left eye (<1/10). Acute retinal necrosis is a rare event in children. Differential diagnosis includes other causes of sudden onset blindness

    Behavior of the training load, recovery and well-being in volleyball professional athletes in weeks with and without matches

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    O objetivo deste estudo foi comparar a carga interna de treinamento, o estado de recuperação e o bem-estar em atletas profissionais de Voleibol de acordo com a frequência semanal de jogos. A recuperação foi quantificada pela Escala de TQR, a carga pela PSE da sessão e o bem-estar pela escala de QBE. Para comparar os valores da Carga de Treinamento Semanal Total, o delta da Qualidade Total de Recuperação (ΔTQR) e o delta da Qualidade de bem-estar (ΔQBE) foi aplicado o teste ANOVA para medidas repetidas. Não foram encontradas diferenças significativas ao comparar a carga de treinamento com a frequência de jogos semanais, porém o tamanho do efeito foi muito elevado quando se comparou a diferença entre um e dois jogos semanais, assim como de nenhum a dois jogos na semana. Houve diferença entre o ΔTQR entre as semanas sem jogos e com dois jogos assim como entre as semanas com um e dois jogos. Já o ΔQBE foi diferente para as semanas que não havia a realização de jogos e aquelas com jogos. Concluise que, mesmo que não haja uma variação das cargas com diferentes frequências semanais de jogos, a recuperação assim como o bem-estar dos atletas foi alterada.The aim of this study was to compare the internal training load, recovery state and the well-being of volleyball professional athletes, according to the number of matches during the week. The recovery was quantified with TQR Scale, the training load with sRPE and the well-being with QBE Scale. The ANOVA was applied for repeated measures in order to compare the values of Total weekly training load, the delta of Total Quality Recovery (ΔTQR) and the delta of the quality of well-being (ΔQBE),. There was no significant difference among the training load and the frequency of weekly games, but the effect size was very high when it was compared to the difference between one and two weekly games, as well as any and two games in a week. There were differences on the ΔTQR between weeks without games and with two games, as well as weeks with one and two matches. The ΔQBE was different for weeks in which there was no game and those with matches, regardless of the frequency. It was concluded that, even if there is no variation of loads in different weekly frequency of matches, the athletes' recovery and well-being change.Facultad de Humanidades y Ciencias de la Educació
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