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Motor Development as a Potential Marker to Monitor Infantile Pompe Disease on Enzyme Replacement Therapy

Open Journal of Clinical Diagnostics 2017年第1期7卷 8-19页

作者： Paula de Almeida Thomazinho fernanda Bertao Scalco maria Lucia Costa de Oliveira Dafne Dain Gandelman Horovitz Juan Clinton Llerena Jr Fisioterapia Motora Instituto Nacional de Saude da Mulherda Crianca e do Adolescente Fernandes Figueira/FIOCRUZRio de JaneiroBrasil Departamento de Bioquimica Universidade Federal do Rio de JaneiroRio de JaneiroBrasil Area de Centro de Genetica Medica Instituto Nacional de Saude da Mulherda Crianca e do Adolescente Fernandes Figueira/FIOCRUZRio de JaneiroBrasil

After Enzyme Replacement Therapy (ERT) using recombinant human acid alpha-glucosidase (rhGAA), survival of Infantile Pompe Disease (IPD) patients through the first 18 months of age has been documented and acquisitions of motor development are an important outcome, but description of its course is scarce. Objective: To describe the motor development in an IPD patient and its correlation with clinical conditions during the first 18 months on ERT with rhGAA. Methods: By longitudinal observational study of an IPD case at early stage. Clinical and biochemical characteristics were obtained from patient records. Echocardiogram assessed cardiac indexes and the urinary biomarker—glucose tetrasaccharide (Glc4)—was obtained by HPLC/UV, following sample derivatization with butyl 4-amino benzoate and analysis on a C18 stationary phase column. Motor skills were evaluated with Alberta Infant of Motor Scale (AIMS) and motor delay was considered as motor percentile (p) below 10. Descriptive statistical analysis was carried out and t-test was used to calculate the differences among means, with significance level defined as p value < 0.05. Results: After ERT beginning amelioration of the cardiomyopathy with reduced left ventricle mass index (LVMI) from the 2nd month onwards was observed, but above the upper normal limit for healthy children and CRIM-positive IPD patients. Although GAA antibodies level remained above the recommended titers and fluctuating elevation of Glc4 quantified, motor development analysis showed an ascendant curve expected for age within achievement of independent ambulation. Motor delay after pneumonia and maintenance of hypotonia were noted. Variation of Glc4 appeared long after a transitory intercurrence. Conclusion: In an IPD case, motor development can have normal evolution despite hypotonia. Motor analysis seems to be sensitive to follow-up clinical intercurrences. To elucidate the interaction among prognostic factors and outcomes, further clinical studies

关键词： Infantile Pompe Disease Motor Development Enzyme Replacement Therapy Glc4 Biomarker

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Mediastinal Liposarcoma: Case Report and Literature Review

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Journal of Cancer Therapy 2021年第4期12卷 208-220页

作者： Jeronimo Garcialopez De Llano maria fernanda Mijares Vanitha Vasudevan Rodrigo Arrangoiz Amit Sastry Frank De la Cruz Jennifer Fernandez Garcia Adrian Legaspi Center for Advanced Surgical Oncology Palmetto General Hospital Hialeah USA

Liposarcomas (LS) are the second most common type of soft tissue malignancies in adults;they arise from mesenchymal cells and account for 1% of all adult cancers and 15% of all pediatric cancers. The site of origin can be from anywhere there is fat in the human body. LS are classified based on the primary site of origin, and mediastinal LS are extremely rare. When mediastinal neoplasms are stratified based on histology, they represent less than 1% of all mediastinal tumors. To date, less than 150 cases have been reported in the English literature. This article aims to present an unusual case of an extremely rare malignancy and perform a systematic review of the latest literature. In this report, our group is documenting the presentation, management, and outcome of a 65-year-old male patient with a massive anterior mediastinal primary LS. The tumor was displacing the mediastinum into the right chest, occupying most of the left chest, and pushing the diaphragm into the abdomen. Mediastinal liposarcomas are extremely rare malignancies and can prove to be challenging to diagnose and treat. Aggressive surgical treatment with R0 resection is the gold standard, however, tumor biology in many cases is associated with variable growth rates and encroachment of adjacent vital structures and blood vessels. When complex anatomical structures preclude an R0 resection, there is a high incidence of local recurrence. In cases where there is a high risk of recurrence, radiotherapy is indicated and chemotherapy has a more limited role.

关键词： Liposarcoma (LS) Well-Differentiated Liposarcoma (WDLS) Dedifferentiated Liposarcoma (DDLS)

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Event-based hydrology and sedimentation in paired watersheds under commercial eucalyptus and grasslands in the Brazilian Pampa biome

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International Soil and Water Conservation Research 2021年第2期9卷 180-194页

作者： Ederson Diniz Ebling Jose Miguel Reichert Jhon Jairo Zuluaga Pelaez Miriam fernanda Rodrigues Mirian Lago Valente Rosane Barbosa Lopes Cavalcante Paolo Reggiani Raghavan Srinivasan Soils Department Universidade Federal de Santa MariaAvenida Roraima1000 Bairro CamobiSanta MariaRS97105-900Brazil Corporacion Colombiana de Investigacion Agropecuaria(AGROSAVIA) Centro de Investigacion NataimaEspinalColombia CMPC Celulose Riograndense Rua Sao Geraldo1680GuaibaRS92500-000Brazil Department of Civil Engineering University of SiegenPaul Bonatz Strasse 9-11Siegen D57068Germany Department of Ecology and Conservation Biology Texas A&M University(TAMU)534 John Kimbrough Blvd.Room 305College StationTX77843-2120USA Current address:Instituto Tecnologico Vale.Rua Boaventura da Silva 955UmarizalBelemPABrazil.

Ecological and hydrological impacts are expected when watersheds are under commercial *** this study we evaluated event-based hydrology and sedimentation in paired watersheds under commercial eucalyptus and grasslands ***,suspended sediment concentration,and sediment production were measured and simulated with the Limburg Soil Erosion Model(LISEM)in paired hydrographic watersheds located in southern Brazil;one occupied with 7-years old Eucalyptus saligna plantation(forest watershed-FW;0.83 km^(2))and another Pampa biome with native and exotic grasses used for beef cattle production(grassland watershed-GW;1.10 km^(2)).The effect of rainfall on hydrological and sedimentological variables was more evident in GW compared with *** shape of the hydrograph was steepest in GW,with rapid,marked increase and decrease in flow during *** parameters changed for model calibration in FW and GW were soil saturated hydraulic conductivity,initial soil moisture,and Manning roughness coefficient,whereby the statistical performance was classified as good(NSE>0.75).Fourteen events different from those used in the calibration process were validated for FW and GW,with NSE index classified as“good”and“very good”for *** study shows limitations of LISEM in calibrating and validating the sediment yield for individual events due to the spatial variability of factors controlling soil *** validated modeling results of this study may be applied in simulating soil and crop scenarios in watersheds cultivated with commercial forest and grassland for grazing.

关键词： Southern grasslands Paired watersheds Runoff Erosion LISEM

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<i>In Vitro</i>Priming of Sugarcane Varieties (RB966928 and RB867515)

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American Journal of Plant Sciences 2018年第4期9卷 763-774页

作者： Rafaela Pereira Duarte Rodrigo Kelson Silva Rezende fernanda Pinto Maílson Vieira Jesus Izaias Rodrigues da Silva Junior Ana maria Scoton Faculty of Agrarian Sciences Federal University of Grande Dourados Dourados Brazil

Sugarcane, as a glycophyte, shows sensitivity to saline soils at various stages of its growth. The aim of this study was to evaluate the in vitro priming response in two sugarcane varieties (RB966928 and RB867515). Micropropagated plants, from meristems, received priming treatments by adding the salts (NaCl and KCl) in different concentrations (0.0;12.5;25.0 and 50.0 mM), in the MS medium. Subsequently, the plants were cultivated in rooting medium without addition of salts, acclimatized and submitted to gradient ex vitro saline stress with 20 → 40 and 60 mM, of each salt, for 30 days. The analyzed variables were dry matter of shoot and root, number of tillers and estimation of chlorophyll content. The experiment was carried out in a 2 × 2 × 4 factorial arrangement, in a completely randomized experimental design. Twenty replicates were used throughout the experiment. Data were submitted to analysis of variance and regression and the means were compared by Tukey’s test, at a 5% probability level. The priming treatments presented a significant effect, with triple interaction, in the chlorophyll index. In the treatment with NaCl, the variety RB966928 showed an increase in the chlorophyll index with the increase of treatment levels, up to an optimal limit of 31.47 mM. On the other hand, the variety RB867515 showed decreasing in chlorophyll index. In contrast, in KCl treatment, the variety RB867515 presented the increase at the chlorophyll index with the maximum point of 25 mM. For the variables, shoot dry matter (SDM) and root dry matter (RDM) there was a significant difference (p 0.05 and p 0.01, respectively) only between the varieties. The variety RB966928 presented higher SDM and RDM in relation to the variety RB867515. Studies are recommended with increasing the duration of the priming treatments and more detailed study of the culture throughout its productive cycle.

关键词： Salinity Stress Micropropagation Saccharum officinarum L.

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An algorithm to resolve γ-rays from charged cosmic rays with DAMPE

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Research in Astronomy and Astrophysics 2018年第3期18卷 25-36页

作者： Zun-Lei Xu Kai-Kai Duan Zhao-Qiang Shen Shi-Jun Lei Tie-Kuang Dong Fabio Gargano Simone Garrappa Dong-Ya Guo Wei Jiang Xiang Li Yun-Feng Liang Mario Nicola Mazziotta maria fernanda Munoz Salinas Meng Su Valerio Vagelli Qiang Yuan Chuan Yue Jing-Jing Zang Ya-Peng Zhang Yun-Long Zhang Stephan Zimmer Key Laboratory of Dark Matter and Space Astronomy Purple Mountain Observatory Chinese Academy of Sciences Nanjing 210008 China University of Chinese Academy of Sciences Beijing 100049 China Istituto Nazionale di Fisica Nucleare Sezione di Bari I-70125 Bari Italy Istituto Nazionale di Fisica Nucleare Sezione di Perugia I-06123 Perugia Italy Dipartimento di Fisica e Geologia Universita degli Studi di Perugia I-06123 Perugia Italy Institute of High Energy Physics Chinese Academy of Sciences Beijing 100049 China Department of Nuclear and Particle Physics University of Geneva CH- 1211 Switzerland School of Astronomy and Space Science University of Science and Technology of China Hefei 230026 China Institute of Modern Physics Chinese Academy of Sciences Lanzhou 730000 China State Key Laboratory of Particle Detection and Electronics University of Science and Technology of China Hefei 230026 China

The DArk Matter Particle Explorer（DAMPE）,also known as Wukong in China,which was launched on 2015 December 17,is a new high energy cosmic ray and γ-ray satellite-borne *** of the main scientific goals of DAMPE is to observe Ge V-Te V high energy γ-rays with accurate energy,angular and time resolution,to indirectly search for dark matter particles and for the study of high energy astrophysics. Due to the comparatively higher fluxes of charged cosmic rays with respect to γ-rays,it is challenging to identify γ-rays with sufficiently high efficiency,minimizing the amount of charged cosmic ray contamination. In this work we present a method to identify γ-rays in DAMPE data based on Monte Carlo simulations,using the powerful electromagnetic/hadronic shower discrimination provided by the calorimeter and the veto detection of charged particles provided by the plastic scintillation detector. Monte Carlo simulations show that after this selection the number of electrons and protons that contaminate the selected γ-ray events at～10 Ge V amounts to less than 1% of the selected ***,we use flight data to verify the effectiveness of the method by highlighting known γ-ray sources in the sky and by reconstructing preliminary light curves of the Geminga pulsar.

关键词： gamma rays general - instrumentation detectors - methods data analysis

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Antitumor Effect of Cationic INKKI Peptide from Bovine <i>β</i>-Casein on Melanoma B16F10

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Journal of Cancer Therapy 2012年第4期3卷 237-244页

作者： Ricardo Alexandre Azevedo Adilson Kleber Ferreira Aline Vivian Vatti Auada Kerly fernanda Mesquita Pasqualoto Rafael Marques-Porto Durvanei Augusto maria Ivo Lebrun Butantan Institute Biochemistry and Biophysical Laboratory Sao Paulo Brazil

Cationic peptide with the sequence INKKI 41-45 was isolated from bovine β-casein after tryptic hydrolysis and synthetized. The aim of this work was to evaluate the antiproliferative activity in vitro and antitumor effect in animal model. The in vitro cytotoxicity was evaluated on B16F10 melanoma cells by MTT assay. Detection of apoptosis was measured using the annexin V/PI double staining and cell cycle analysis performed flow cytometry. Caspase-3 activity was analyzed with substrate specific fluorogenic DEVD-MCA. In vivo, antitumor activity was evaluated in B16F10 melanoma tumor-bearing C57BL/6J mice. The animals were treated with 55 mg/kg INKKI administered into peritumoral region, while control group received saline solution. The following antitumor parameters were examined: tumor volume, number of metastases, tumor delayed time, tumor doubling time. Histological analyses were performed with H & E staining. The results showed that INKKI induced dose-response cytotoxicity selective for B16F10 melanoma cells (IC50 1.7 μM) and did not present cytotoxic effects for FN1 fibroblast cells. INKKI-induced apoptosis detected trough of annexin V/PI assay and it was accompanied with an increase of sub-G1 apoptotic fractions and significant increase of caspase-3 cleavage. The tumor-bearing mice treated with INKKI showed a significant reduction in tumor volume of 72.62% and decreased of metastasis number loci. In addition, INKKI caused a significant delay in tumor growth and prolonged the tumor doubling time. Histological analysis revealed an increased of necrosis areas and reduction of tumor cells in tumor treated with INKKI, it was a many hallmark of its antitumor effects observed from in vivo experiments. In conclusion, we show that INKKI is a peptide that could be considered a new putative candidate development to anticancer therapy drug.

关键词： β-Casein Peptide Apoptosis Metastasis Tumor Growth Melanoma

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The human olfactory system in two proteinopathies: Alzheimer’s and Parkinson’s diseases

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Translational Neurodegeneration 2020年第2期9卷 270-289页

作者： Isabel Ubeda-Bañon Daniel Saiz-Sanchez Alicia Flores-Cuadrado Ernesto Rioja-Corroto Melania Gonzalez-Rodriguez Sandra Villar-Conde Veronica Astillero-Lopez Juan Pablo Cabello-de la Rosa maria Jose Gallardo-Alcañiz Julia Vaamonde-Gamo fernanda Relea-Calatayud Lucia Gonzalez-Lopez Alicia Mohedano-Moriano Alberto Rabano Alino Martinez-Marcos Neuroplasticity and Neurodegeneration Laboratory Ciudad Real Medical SchoolCRIBUniversity of Castilla-La Mancha13005Ciudad RealSpain Neurology Service Ciudad Real General University Hospital13005Ciudad RealSpain Pathology Service Ciudad Real General University Hospital13005Ciudad RealSpain Faculty of Health Sciences University of Castilla-La ManchaTalavera de la ReinaSpain Neuropathology Department and Tissue Bank CIEN FoundationCarlos III Health InstituteMadridSpain

Alzheimer’s and Parkinson’s diseases are the most prevalent neurodegenerative *** etiologies are idiopathic,and treatments are symptomatic and orientated towards cognitive or motor ***,both are proteinopathies with pathological aggregates(plaques of amyloid-β peptide and neurofibrillary tangles of tau protein in Alzheimer’s disease,and Lewy bodies mostly composed of α-synuclein in Parkinson’s disease).These deposits appear in the nervous system in a predictable and accumulative sequence with six neuropathological *** disorders present a long prodromal period,characterized by preclinical signs including ***,the olfactory system,particularly the anterior olfactory nucleus,is initially and preferentially affected by the *** atrophy revealed by magnetic resonance imaging must be complemented by histological analyses to ascertain whether neuronal and/or glial loss or neuropil remodeling are responsible for volumetric *** has been proposed that these proteinopathies could act in a prion-like manner in which a misfolded protein would be able to force native proteins into pathogenic folding(seeding),which then propagates through neurons and glia(spreading).Existing data have been examined to establish why some neuronal populations are vulnerable while others are resistant to pathology and to what extent glia prevent and/or facilitate proteinopathy *** approaches reveal a number of hubs in the olfactory system(anterior olfactory nucleus,olfactory entorhinal cortex and cortical amygdala)that are key interconnectors with the main hubs(the entorhinal–hippocampal–cortical and amygdala–dorsal motor vagal nucleus)of network dysfunction in Alzheimer’s and Parkinson’s diseases.

关键词： α-Synuclein Amyloid-β Anterior olfactory nucleus Hyposmia Tau protein

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CXCL9 and CXCL10 display an agedependent profile in Chagas patients:a cohort study of aging in Bambui,Brazil

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Infectious Diseases of Poverty 2020年第3期9卷 132-132页

作者： fernanda Fortes de Araújo Karen Cecília Lima Torres Sérgio Viana Peixoto Antonio Luiz Pinho Ribeiro Juliana Vaz Melo Mambrini Vitor Bortolo Rezende maria Luiza Lima Silva Antônio Ignácio Loyola Filho Andréa Teixeira-Carvalho maria fernanda Lima-Costa Olindo Assis Martins-Filho Integrated Research Group in Biomarkers Rene Rachou InstituteOswaldo Cruz FoundationAvenida Augusto de Lima1715–Barro Preto–Belo HorizonteMinas Gerais 30190-002Brazil 不详

Background:Chagas disease is endemic in Latin America and still represents an important public health problem in the *** cardiomyopathy is the most significant chronic form due to its association with morbidity and *** last decade has seen increasing evidence that inflammatory cytokines and chemokines are responsible for the generation of inflammatory infiltrate and tissue damage,with chronic chagasic cardiomyopathy patients presenting a pro-inflammatory immune *** studies have evaluated the role of chemokines in experimental *** infection,few have addressed their systemic profile,especially for human infection and in aging *** present work aimed to use the data from a large population based study of older adults,conducted in an endemic area for Chagas disease,to examine the association between serum levels of cytokines and chemokines,*** infection and electrocardiogram(ECG)***:The present work evaluated serum levels of CCL2,CXCL9,CXCL10,CCL5,CXCL8,IL-1β,IL-6,TNF,IL-12 and IL-10 by Flow Cytometric Bead Array assay(CBA)and the results expressed in pg/*** baseline survey started in January 1st 1997,with 1284 participants of an aged population-based *** signed an informed consent at baseline and at each subsequent visit and authorized death certificate and medical records ***:Our results demonstrated that Chagas disease patients had higher serum levels of CXCL9,CXCL10 and IL-1βand lower serum levels of CCL5 than non-infected ***,our data demonstrated that CXCL9 and CXCL10 increased in an age-dependent profile in Chagas disease ***:Together,this study provided evidences that serum biomarkers increase along the age continuum and may have potential implications for establishing clinical management protocols and therapeutic intervention in Chagas disease patients.

关键词： Chagas disease Immune biomarkers Chemokines Cytokines Cohort

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Synergistic Antioxidant Activity in Brazilian Propolis Extract Blends: An in Vitro Study

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Food and Nutrition Sciences 2023年第4期14卷 385-400页

作者： José Dilson Francisco da Silva Suslin Raatz Thiel Sabrina Somacal fernanda Cristina Breda Pimpernelli Jonco dos Santos Osmar Damian Prestes Renato Zanella Renius de Oliveira Mello Department of Food Science and Technology Federal University of Santa Maria (UFSM) Santa Maria Brazil Department of Animal Science Federal University of Santa Maria (UFSM) Santa Maria Brazil Department of Chemistry Federal University of Santa Maria (UFSM) Santa Maria Brazil

A simplex-lattice mixture design with response surface methodology was used to evaluate in vitro synergistic antioxidant activity of red, green, and brown Brazilian propolis extract blends. The in vitro antioxidant capacity of propolis extract blends was measured using the fluorine method of oxygen radical absorption capacity assay (ORAC assay). A synergistic antioxidant interaction was identified between green and brown propolis extracts, and the predictive model accused a binary mixture composed of 59% green and 41% brown propolis extracts with increased antioxidant activity of about 54%. Our findings suggest a possible reduction in the dosages of these natural antioxidants in their various potential applications, including health and food, thereby proving to be a highly promising alternative for the rational use and valorization of propolis.

关键词： Green Propolis Red Propolis Natural Antioxidants Food Additives Mixture Modeling

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Association between Neck Circumference and Glycemia in Adolescents

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Journal of Diabetes Mellitus 2018年第3期8卷 61-69页

作者： Cláudia Rucco Penteado Detregiachi Karina Quesada Sandra maria Barbalho Deisiane de Cassia Mulato Mirela Moris Tassiana Minardi Vitoria Esborini Nogueira fernanda Fioravanti Bernardo Department of Biochemistry and Nutrition University of Marília (UNIMAR) S&atildeo Paulo Brazil Department of Biochemistry and Nutrition Faculty of Food Technology of Marília (FATEC) S&atildeo Paulo Brazil

Background: The determination of glycemia is an essential element for the diagnosis of diabetes or possible glycemic alterations. The body composition and fat distribution are related to this parameter. The neck circumference (NC) is an anthropometric measure that has been used to evaluate the overweight and accumulation of subcutaneous fat in the upper body, regardless of age. It is also a useful tool to predict insulin resistance and other risk factors. This research aimed to study the relationship between the NC and glycemia in adolescents and, thus, to analyze the applicability of this anthropometric measure in the screening of glycemic alterations in this group. Methods: The study population consisted of 600 adolescents aged 10 to 19 years. Data on sex, birth date, NC, fasting blood glucose and stage of sexual maturation was collected. Results: The evolution of sexual maturation generated a significant difference in the NC in both sexes, but not affected glycemia. Thus, the association between NC and glycemia was investigated according to this parameter. Among the pre-pubertal adolescents, the NC was significantly higher among those who had glycemia within borderline values, and the opposite occurred among pubertal adolescents. Among post-pubertal adolescents, NC was similar between the two groups. A negative correlation was found in all adolescents, as well as among those who were in the pubertal and post-pubertal stages of sexual maturation. Differently, adolescents in the pre-pubertal stage showed a positive correlation between the NC and the biochemical parameters. Conclusion: This study showed that the relationship between the NC and glycemia varies according to the stage of sexual maturation. As this maturation factor is rarely considered in the glycemic alteration screening, the use of the NC in this age group is not safe and requires further investigations.

关键词： Adolescents Glycemia Neck Circumference Sexual Maturation Puberty

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