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INTRODUCTION: This study investigates primary lateral sclerosis (PLS) as a rare manifestation of the presenilin 1 (PSEN1) NM_000021 c.851C > T p.Pro284Leu variant in three siblings of a Colombian family, outlining its clinical and neuropathological features and their relationship to Alzheimer's disease (AD). METHODS: Data were gathered using clinical evaluations, next-generation genetic sequencing, magnetic resonance imaging, biomarker analysis, and neuropathological examination. RESULTS: Carriers of the PSEN1 Pro284Leu variant exhibited classic PLS symptoms, including unilateral onset and bulbar syndromes, along with cognitive decline. Neuropathology showed corticospinal tract degeneration without amyloid beta deposition in spinal white matter. DISCUSSION: Our findings suggest an overlap between PLS and AD pathology in PSEN1 variant carriers. Results support considering PLS when diagnosing AD-related motor syndromes and including PSEN1 evaluation when performing genetic testing for PLS. The study highlights the need for further research to clarify the PLS-AD relationship, informing future treatments and clinical trials. HIGHLIGHTS: Pathogenic variants in presenilin 1 (PSEN1) can manifest as hereditary primary lateral sclerosis PSEN1 Pro284Leu carriers present motor, cognitive, and behavioral alterations Cases had corticospinal tract microgliosis and severe Aß pathology in motor cortex There was no evidence of amyloid deposition in the spinal cord white matter All the neuropathology images are available for online visualization Myelin pallor in the spinal cord is confined to the lateral corticospinal tracts.
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This study investigated the effect of different storage temperatures (35-55 °C) on the bioactive substances and antioxidant properties of Hyeronima macrocarpa berries loaded on nanocellulose. NC was extracted from banana pseudo-stems and presented an interesting surface and porosity properties. The acidified ethanol extract showed better anthocyanin extraction (1317 mg C3G eq./100 g FW) and was used for the preparation of the powdered product, which presented an intense and uniform magenta color, with CIELAB parameters of L* = 59.16, a* = 35.61, and b* = 7.08. The powder exhibited significant stability at storage temperatures of 35 and 45 °C, in which there was no significant loss of anthocyanins or a decrease in antioxidant capacity. In addition, the color was stable for up to 4 months without adding any preservative agent. The anthocyanin-rich extract of H. macrocarpa reached an estimated shelf-life of 315 days (stored at 35 °C), as a result of the impregnation process between the extract and NC, with the ability to protect the bioactives from degradation, due to NC surface properties.
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Antioxidantes , Frutas , Antocianinas/metabolismo , Antioxidantes/metabolismo , Antioxidantes/farmacologia , Etanol/metabolismo , Frutas/metabolismo , Extratos Vegetais/metabolismo , Pós/metabolismo , Corantes de RosanilinaRESUMO
BACKGROUND: Alzheimer's disease (AD) is the most common cause of dementia; the main risk factors are age and several recently identified genes. A major challenge for AD research is the early detection of subjects at risk. The aim of this study is to develop a predictive model using proton magnetic resonance spectroscopy (1H-MRS), a noninvasive technique that evaluates brain chemistry in vivo, for monitoring the clinical outcome of carriers of a fully penetrant mutation that causes AD. METHODS: We studied 75 subjects from the largest multigenerational pedigree in the world (â¼5000 people) that segregates a unique form of early-onset Alzheimer's disease (EOAD) caused by a fully penetrant mutation in the Presenilin-1 gene (PSEN1 p.Glu280Ala [E280 A]). Forty-four subjects were carriers of the mutation, and 31 were noncarriers. Seventeen carriers had either mild cognitive impairment (MCI) or early-stage AD (collectively MCI-AD). In right and left parietal white mater and parasagittal parietal gray matter (RPPGM and LPPGM) of the posterior cingulate gyrus and precuneus, we measured levels of the brain metabolites N-acetylaspartate (NAA), inositol (Ins), choline (Cho), and glutamate-glutamine complex (Glx) relative to creatine (Cr) levels (NAA/Cr, Ins/Cr, Cho/Cr, and Glx/Cr, respectively) with two-dimensional 1H-MRS. Using advanced recursive partition analysis and random forest analysis, we built classificatory decision trees for both mutation carrier status and the presence of MCI-AD symptoms, fitting them to 1H-MRS data while controlling for age, educational level, and sex. RESULTS: We found that (1) the combination of LPPGM Cho/Cr<0.165 and RPPGM Glx/Cr>1.54 fully excluded carriers; (2) LPPGM Cho/Cr>0.165, RPPGM Glx/Cr<1.54, and left parietal white mater NAA/Cr>1.16 identified asymptomatic carriers with sensitivity of 97.7% and specificity of 77.4%; and (3) RPPGM NAA/Cr>1.05 defined asymptomatic subjects (independent of carrier status) with sensitivity of 100% and a specificity of 96.6%. CONCLUSIONS: Brain metabolites measured by 1H-MRS in the posterior cingulate gyrus and precuneus are optimally sensitive and specific potential noninvasive biomarkers of subclinical emergence of AD caused by the PSEN1 p.Glu280Ala (E280 A) mutation.
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Doença de Alzheimer/diagnóstico , Encéfalo/metabolismo , Heterozigoto , Mutação , Presenilina-1/genética , Espectroscopia de Prótons por Ressonância Magnética/métodos , Doença de Alzheimer/metabolismo , Disfunção Cognitiva/genética , Disfunção Cognitiva/metabolismo , Diagnóstico Precoce , Feminino , Humanos , Masculino , Modelos Neurológicos , Curva ROC , Sensibilidade e Especificidade , Processamento de Sinais Assistido por ComputadorRESUMO
The immobilization of bacteria cells has shown to be an efficient technology to improve cell viability. This study used lyophilized and pulverized coffee pulp (LPC) and LPC functionalized with theobromine at two concentrations, 3.1â w/w and 2.4â w/w named as LPF1 and LPF2, respectively, to immobilize Lactobacillus rhamnosus ATCC 53103 cells (biomaterials) and increase the viability of the cell at storage and gastrointestinal conditions. To characterize the biomaterials, SEM, Dynamic Light Scattering, TGA, , FTIR and Isoeletrc Point measurements (or zeta potential measurements) were carried out. To evaluate the effectiveness of immobilization, cell viability as a function of storage time and under simulated gastrointestinal conditions was evaluated. Regarding the characterization of the materials, the particle sizes were 21.7 to 334.4â nm and they experienced mass losses of less than 10% at 100 °C. The FTIR indicated the presence of functional groups related to caffeine, chlorogenic acid, sucrose, arabinogalactans, carbohydrates, and proteins in all biomaterials. The sorption kinetic parameters showed an adsorptive capacity between 3.0 × 109 and 8.0 × 109â CFU/g, being LPF1 the best materials to immobilize the cells, associated with LPF1 surface properties. The viability was higher for immobilized cells than for free cells, when left in storage and under simulated gastric conditions. Finally, the biomaterials could be used in the preparation of probiotic diets based on lactobacilli. To the best of our knowledge, this is the first study regarding the use of waste from coffee agribusiness to develop probiotic biocarriers which opens up possibilities for future developments.
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Lacticaseibacillus rhamnosus , Probióticos , Lactobacillus , Cinética , Viabilidade MicrobianaRESUMO
This article studies the release of phenolic compounds during cocoa heating under vacuum, N2, and air atmospheres, and proposes fast heating (60 °C ⢠s-1) as a methodology that allows the release of polyphenols from fermented cocoa powder. We aim to demonstrate that gas phase transport is not the only mechanism to extract compounds of interest and that convective-type mechanisms can facilitate the process by reducing their degradation. The oxidation and transport phenomena were evaluated both in the extracted fluid and in the solid sample during the heating process. Polyphenols transport phenomena were assessed based on the fluid (chemical condensate compounds) that was collected cold with an organic solvent (methanol) in a hot plate reactor. Out of all the polyphenolic compounds present in cocoa powder, we assessed specifically the release of catechin and epicatechin. We found that high heating rates combined with vacuum or N2 favor the ejection of liquids; then, it is possible to extract compounds such as catechin-which is dissolved/entrained and transported in the ejected liquids-and avoid degradation phenomena.
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Catequina , Chocolate , Calefação , Fenóis , PolifenóisRESUMO
Microalgae biomass exploitation as a carbon-neutral energy source is currently limited by several factors, productivity being one of the most relevant. Due to the high absorption properties of light-harvesting antenna, photosynthetic cells tend to capture an excessive amount of energy that cannot be entirely channeled through the electron transfer chain that ends up dissipated as heat and fluorescence, reducing the overall light use efficiency. Aiming to minimize this hurdle, in this work we studied the effect of decreasing concentrations of Magnesium (Mg2+) on the chlorophyll a content, photosynthetic performance, biomass and lipid production of autotrophic cultures of Botryococcus braunii LB 572. We also performed, for the first time, a comparative lipidomic analysis to identify the influence of limited Mg2+ supply on the lipid profile of this algae. The results indicated that a level of 0.0037 g L-1 MgSO4 caused a significant decline on chlorophyll a content with a concomitant 2.3-fold reduction in the biomass absorption coefficient. In addition, the Mg2+ limitation caused a decrease in the total carbohydrate content and triggered lipid accumulation, achieving levels of up to 53% DCW, whereas the biomass productivity remained similar for all tested conditions. The lipidome analysis revealed that the lowest Mg2+ concentrations also caused a differential lipid profile distribution, with an enrichment of neutral lipids and an increase of structural lipids. In that sense, we showed that Mg2+ limitation represents an alternative optimization approach that not only enhances accumulation of neutral lipids in B. braunii cells but also may potentially lead to a better areal biomass productivity due to the reduction in the cellular light absorption properties of the cells.
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BACKGROUND: The main by-product of the coffee production chain is pulp; if it is not properly disposed of, it represents a serious environmental problem. Some studies suggest that this pulp can be used as a source of important compounds. The aim of this study was to evaluate the content of bioactive compounds present in coffee pulps and also to prepare a functional drink-type infusion to propose an alternative use of this by-product. METHODS: In coffee pulps (Coffea arabica, var. Colombia and Caturra), the effect of the tem- perature and the extraction type over the content of total polyphenols, total flavonoids, condensed tannins and phenolic acids were determined. Moreover, the antioxidant activity by ABTS, ORAC and FRAP methodolo- gies. With the best pulp, an infusion-type hot drink was prepared at 80°C. Finally, sensory assessment was performed. RESULTS: The best conditions to perform the metabolite extraction were room temperature and HCl 1%. The highest trapping capacity of the cationic radical ABTS+* was 24 782.93 μmol Trolox Equivalent per 100 g of pulp, ORAC 57 087.82 μmol Trolox Equivalent per 100 g of pulp and FRAP 806.93 mg of ascorbic acid equivalent per 100 g of pulp. For the infusion preparation, two drying methods were used – stove and lyophi- lization, and overall the best results correspond to the infusions prepared with the lyophilized plant material. This material also had good overall scores in the sensory test (3.51 to 4.04 on a scale of 1 to 5) been the taste most appreciated by the panelists. CONCLUSIONS: The bioactive compound concentration and the antioxidant activity of the coffee pulp suggest that waste can be used as a raw material for the preparation of functional foods, because the values found are similar or greater than those found in other drinks and fruits consumed commercially.
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Antioxidantes/metabolismo , Coffea/química , Resíduos Industriais , Antioxidantes/química , Cafeína/química , Indústria Alimentícia , Liofilização , Humanos , Resíduos Industriais/análise , Capacidade de Absorbância de Radicais de Oxigênio , Extratos Vegetais/química , Extratos Vegetais/metabolismo , Sementes/química , Sensação , PaladarRESUMO
Nanocellulose obtained from banana rachis (NCBR) was loaded (through simple impregnation) with a polyphenolic-rich extract (PRE) of Andean berries (Vaccinium meridionale). The adsorption/desorption of polyphenols onto NCBR and the thermal stability and antioxidant activity of the polyphenolic-NCBR nanocomplex (NCX) was studied. Thermodynamic properties (ΔH°ads, ΔS°ads and ΔG°ads) showed that polyphenols interact with NCBR by physisorption through a spontaneous and exothermic process. The NCX kept the original color of PRE (magenta) and released polyphenols in aqueous medium (80% of phenolic compounds in the first hour and 50% of anthocyanins in the first few minutes). The NCX showed high antioxidant activity, as evidenced by traditional assays, and inhibited the peroxyl radicals mediated oxidation of a tryptophan-containing peptide. Additionally, NCX inhibited lipid peroxidation in an emulsified system of Sacha inchi oil exposed to accelerated oxidative conditions. In conclusion, the NCX showed good properties as an antioxidant with potential use as a food additive.
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Antioxidantes/química , Celulose/química , Aditivos Alimentares/química , Musa/química , Nanoestruturas/química , Polifenóis/química , Vaccinium/química , Adsorção , Antocianinas/análise , Antocianinas/química , Colorimetria , Frutas/química , Frutas/metabolismo , Musa/metabolismo , Temperatura , Termodinâmica , Vaccinium/metabolismoRESUMO
Introducción: La migraña y el trastorno depresivo son patologías altamente prevalentes e incapacitantes, las cuales presentan relaciones bidireccionales de comorbilidad. En la literatura se han descrito factores de riesgo y mecanismos fisiopatológicos comunes para ambas enfermedades, así como asociaciones entre estas y su presentación clínica. Métodos: El presente texto es una revisión narrativa de la literatura. La búsqueda del material bibliográfico se hizo mediante distintas bases de datos especializadas en el área de la salud. Resultados: Algunos factores de riesgo están asociados con ambas patologías, y ambas comparten factores patogénicos, incluidos cambios funcionales, estructurales, genéticos, epigenéticos y hormonales, entre otros. Varios de los tratamientos preventivos que han demostrado eficacia en el tratamiento de la migraña son medicamentos o medidas con efecto antidepresivo. Discusión: Si se consideran las asociaciones y los factores comunes descritos en la literatura, se hace evidente que en el enfoque de pacientes diagnosticados con alguna de estas patologías es necesario tener en cuenta una posible comorbilidad entre migraña y depresión. Conclusión: Es importante promover el tamizaje de estas dos condiciones en pacientes diagnosticados con alguna de ellas, pues esto puede tener implicaciones terapéuticas e impacto en la calidad de vida.
Introduction: Migraine and depressive disorder are highly prevalent and disabling pathologies, which present bidirectional relationships of comorbidity. Common risk factors and pathophysiological mechanisms for both diseases have been described in the literature, as well as associations between them and their clinical presentation. Methods: This text is a narrative literature review. The bibliographical material was found through different databases specialized in health sciences. Results: Some risk factors are associated with both pathologies, and both share pathogenic factors, including functional, structural, genetic, epigenetic, hormonal changes, among others. Several of the preventive treatments that have shown efficacy in the treatment of migraine are medications or measures with an antidepressant effect. Discussion: Considering the associations and common factors described in the literature, it becomes evident that in the approach to patients diagnosed with any of these pathologies, it may be beneficial to consider a possible migraine-depression comorbidity. Conclusion: It is important to promote the screening of these two patients diagnosed with some, since it can have therapeutic implications and impact on quality of life.
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Comorbidade , Enxaqueca com Aura , Depressão , Serotonina , Saúde Mental , Dor CrônicaRESUMO
OBJECTIVE: Accurate diagnosis and localization of dural defects associated with CSF fistulas are difficult and often involve multiple imaging studies performed at the appropriate clinical moment. Our purpose was to assess the utility of intrathecal administration of gadopentetate dimeglumine for MR cisternography of patients with CSF fistula suspected clinically to arise from defects in the nasoethmoidal regions. CONCLUSION: MR cisternography was useful for evaluating patients with rhinorrhea and suspected CSF fistula. It depicted the fistula site in most patients. No adverse effects were found in any patient.
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Rinorreia de Líquido Cefalorraquidiano/diagnóstico , Gadolínio DTPA/administração & dosagem , Aumento da Imagem/métodos , Imageamento por Ressonância Magnética/métodos , Adolescente , Adulto , Criança , Meios de Contraste/administração & dosagem , Feminino , Humanos , Injeções Espinhais , Masculino , Pessoa de Meia-Idade , Mielografia/métodos , Reprodutibilidade dos Testes , Sensibilidade e EspecificidadeRESUMO
Background: Mango (Mangifera indica L.) is one of the world's most consumed fruit, and it is also a rich source of antioxidants that may prevent oxidative stress. Objectives: This study aimed to determine if mango (cv. Azúcar) juice can improve the antioxidant status of healthy individuals with low consumption of vegetables and fruit. Methods: This was a cross-over single-blind study carried out with 16 healthy individuals for 73 days. Participants were randomly assigned to either a mango juice period or a placebo period. Total phenolic content, antioxidant capacity, mangiferin, thiobarbituric acid reactive substances (TBARS), total glutathione, and 8 hydroxydeoxyguanosine levels were determined in plasma. Results: Plasma antioxidant activity was significantly higher in the juice consumption period than the placebo consumption period; however, total phenolic content, total glutathione, TBARS, and 8-hydroxydeoxyguanosine levels did not show significant differences between juice period and placebo period. Mangiferin was detected in every participant after juice consumption. Conclusions: Mango (cv. Azúcar) juice daily consumption improves plasma antioxidant capacity.
Antecedentes: El mango (Mangifera indica L.) es una de las frutas más consumidas en el mundo y también es una fuente rica en antioxidantes los cuales pueden prevenir el estrés oxidativo. Objetivos: El objetivo de este estudio fue determinar si el mango (c.v Azúcar) puede mejorar el estado antioxidante de individuos sanos con un bajo consumo de frutas y vegetales. Métodos: Se llevó a cabo un estudio cruzado, simple-ciego en 16 individuos sanos durante 73 días. Los participantes fueron asignados aleatoriamente al período del consumo del jugo o del placebo. Se determinó el contenido fenólico total, la capacidad antioxidante y los niveles de sustancias reactivas al ácido tiobarbiturico (TBARS), mangiferina, glutatión total y 8-hidroxi-guanosina, en el plasma obtenido de los participantes. Resultados: La capacidad antioxidante en plasma fue mayor en el período del consumo del jugo en comparación con el período del consumo del placebo; sin embargo, el contenido fenólico total, y los niveles de glutation total, 8-hidroxideoxiguanosina y TBARS no mostraron diferencias significativas entre el período del jugo y el período del placebo. La mangiferina se detectó en todos los individuos después del consumo del jugo. Conclusiones: El consumo diario de jugo de mango variedad Azúcar mejora la capacidad antioxidante en plasma.
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Estresse Oxidativo , Mangifera , Açúcares , Sucos de Frutas e Vegetais , AntioxidantesRESUMO
Background:Vaccinium meridionale produces fruits with a high content of anthocyanins and polyphenols with great antioxidant capacity. Objective: produce vinegar from V. meridionale alcoholic beverages and to determine the content of bioactive antioxidant compounds, antioxidant capacity, and cytotoxic activity on colorectal cancer cells. Methods: Wine and vinegar samples were obtained by fermentation of V. meridionale berries juice, using three extractive processes: mechanical maceration (MAC), preheating to 80°C (CAL) and a combination of both (MIX). During acetic fermentation, titratable acidity and acetic acid content were evaluated. Fermentation progress was recorded and compared by measuring the antioxidant potential by DPPH, FRAP, and ORAC. Polyphenols, anthocyanins and hydroxycinnamic acids were quantified. Finally, the antiproliferative activity of vinegar was evaluated in SW480 colon cancer cells. Results: In acetic fermentation, yield and productivity were independent of extraction, indicating that they do not affect the biotransformation of alcohol into vinegar. The alcoholic beverages showed the highest antioxidant activity; after acetic fermentation, a decrease in antioxidant potential was observed in all three extractive processes evaluated. The different vinegar obtained by CAL and MIX, showed the highest values of antioxidant activity, polyphenols, and anthocyanins. The inhibition of the antiproliferative activity of vinegar was dose-dependent and showed an IC50 of 536 µg/mL. Conclusions: The vinegar prepared from V. meridionale berries presented an outstanding antioxidant and antiproliferative activity. The reason is the contents of bioactive compounds and their antioxidant power, which may contribute to chemoprevention in secondary cancer prevention.
Antecedentes: Vaccinium meridionale produce frutos con alto contenido en antocianinas y polifenoles con elevada capacidad antioxidante. Objetivo: Producir vinagre a partir de bebidas alcohólicas de V. meridionale y determinar el contenido de compuestos bioactivos antioxidantes, capacidad antioxidante y actividad citotóxica sobre células de cáncer colorrectal. Métodos: Muestras de Vino y vinagre fueron obtenidas mediante fermentación del jugo de V. meridionale, usando tres procesos extractivos: maceración mecánica (MAC), precalentamiento a 80 °C (CAL) y una combinación de ambos (MIX). En la fermentación acética fueron evaluadas la acidez titulable y el contenido de ácido acético. Se registró y comparó la evolución de la fermentación midiendo el potencial antioxidante por DPPH, FRAP y ORAC. Se cuantificaron los polifenoles, antocianinas y ácidos hidroxicinámicos. Finalmente, la actividad antiproliferativa del vinagre fue evaluada en células de cáncer de colon SW480. Resultados: En la fermentación acética, el rendimiento y la productividad fueron independientes de la extracción indicando que no afectan la biotransformación del alcohol en vinagre. Las bebidas alcohólicas mostraron la mayor actividad antioxidante, después de la fermentación acética se observó una disminución del potencial antioxidante en los tres procesos extractivos evaluados. Los vinagres obtenidos por CAL y MIX, presentaron los mayores valores de actividad antioxidante, polifenoles y antocianinas. La inhibición de la actividad antiproliferativa del vinagre fue dosis dependiente y mostró un IC50 de 536 µg/mL. Conclusiones: El vinagre preparado a partir de bayas de V. meridionale presentó una excelente actividad antioxidante y antiproliferativa debido al contenido de compuestos bioactivos y poder antioxidante que puede contribuir a la quimioprevención en la prevención secundaria del cáncer.
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Humanos , Ácido Acético , Frutas , Vaccinium , Polifenóis , AntocianinasRESUMO
RESUMEN Las necesidades de ácido docosahexaenoico (DHA), se incrementan en la mujer gestante para el desarrollo visual y neurológico del feto y el lactante. En este trabajo, se desarrolló y se evaluó un yogur adicionado con aceite de microalgas, que contribuyera a la recomendación dietaria de DHA en mujeres gestantes y lactantes. Se diseñaron tres formulaciones de yogur con 0,075; 0,125 y 0,175% de aceite de microalga y se compararon con una muestra control. Se evaluaron propiedades fisicoquímicas, sensoriales, microbiológicas, perfil de ácidos grasos, potencial antioxidante (ABTS, fenoles totales) y peroxidación lipídica (sustancias reactivas al ácido tiobarbitúrico [TBARS]). Los yogures adicionados con el aceite de microalga cubrieron en 30, 45 y 63% las recomendaciones de DHA para mujeres gestantes y lactantes por porción (200 mL). Se observó estabilidad del ácido graso, excepto en la muestra de mayor adición del aceite. La muestra con adición de 0,125% de aceite de microalga fue la de mejor calificación por el panel sensorial. Todas las muestras cumplieron con el estándar microbiológico y fisicoquímico para un yogur entero adicionado con dulce. Se observó potencial antioxidante promisorio en el yogur, capaz de proteger el DHA. Se concluye que las bebidas lácteas como el yogur son matrices adecuadas para la adición de aceite de microalga con la finalidad de aumentar el DHA en la dieta, especialmente en etapas en que las necesidades de este componente son más altas, como en periodo de gestación y lactancia.
ABSTRACT The needs for docosahexaenoic acid (DHA) are increased during pregnancy for the visual and neurological development of the fetus and the breastfed infant. In this study, a yogurt with microalgae oil added to contribute to the dietary recommendation of DHA in pregnant and breastfeeding women was developed and evaluated. Three yogurt formulations were designed with 0.075; 0.125 and 0.175 microalgae oil percentage and compared with a control sample. Fatty acid profile, antioxidant potential (ABTS, total phenols), lipid peroxidation (thiobarbitrical acid reactive substances [TBARS]), physicochemical, sensory, and microbiological properties were evaluated. Yogurts with microalgae oil added covered 30, 45 and 63% of DHA recommendations for pregnant and breastfeeding women per portion (200 mL). Fat acid stability was observed, except in the one with the greatest oil addition. The sample with 0.125% of microalgae oil added was rated the highest by the sensory panel. All samples met the microbiological and physicochemical standard for a whole yogurt added with sugar. Promising antioxidant potential capable of protecting DHA was observed in the yogurt. We conclude that dairy drinks such as yogurt are suitable matrices for adding microalgae oil in order to increase DHA in the diet, especially in stages where the needs of this component are higher as is the case during pregnancy and lactation periods.
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Feminino , Gravidez , Lactente , Aleitamento Materno , Gravidez , Feto , Fenóis , Ácidos Graxos , Microalgas , AntioxidantesRESUMO
Marchiafava-Bignami is a rare toxic disease seen mostly in chronic alcoholics that results in progressive demyelination and necrosis of the corpus callosum. The process may extend laterally into the neighboring white matter and occasionally as far as the subcortical regions. We present the MR imaging findings in two patients who presented acutely and review the features of the disease and of other acute alcohol-related disorders.
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Alcoolismo/complicações , Encefalopatias/diagnóstico , Encefalopatias/etiologia , Corpo Caloso , Doenças Desmielinizantes/diagnóstico , Doenças Desmielinizantes/etiologia , Imageamento por Ressonância Magnética , Idoso , Doença Crônica , Diagnóstico Diferencial , Humanos , Masculino , Pessoa de Meia-IdadeRESUMO
Spinal infections represent a group of rare conditions affecting vertebral bodies, intervertebral discs, paraspinal soft tissues, epidural space, meninges, and spinal cord. The causal factors, clinical presentations, and imaging features are a challenge because the difficulty to differentiate them from other conditions, such as degenerative and inflammatory disorders and spinal neoplasm. They require early recognition because delay diagnosis, imaging, and intervention may have devastating consequences especially in children and the elderly. This article reviews the most common spinal infections, their pathophysiologic, clinical manifestation, and their imaging findings.
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Discite/diagnóstico , Imageamento por Ressonância Magnética/métodos , Intensificação de Imagem Radiográfica , Espondilite/diagnóstico , Tomografia Computadorizada por Raios X/métodos , Doenças Ósseas Infecciosas/diagnóstico , Doenças Ósseas Infecciosas/microbiologia , Diagnóstico por Imagem/métodos , Discite/microbiologia , Feminino , Humanos , Masculino , Sensibilidade e Especificidade , Espondilite/microbiologiaRESUMO
Pediatric congenital intracranial infections are a group of different and important entities that constitute a small percentage of all pediatric infections. The causal factors and clinical presentations are different in children compared with adults. They require early recognition because delay diagnosis and initiation of treatment may have catastrophic consequences. Despite improvements in prenatal screening, vaccine safety, and antibiotics, infections of the central nervous system remain an important cause of neurological disabilities worldwide. This article reviews the most common congenital infections and their imaging findings.
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Encéfalo/patologia , Infecções do Sistema Nervoso Central/congênito , Infecções do Sistema Nervoso Central/diagnóstico , Encefalite/congênito , Encefalite/diagnóstico , Imageamento por Ressonância Magnética/métodos , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Recém-Nascido , MasculinoRESUMO
Infections of the central nervous system (CNS) are a very common worldwide health problem in childhood with significant morbidity and mortality. In children, viruses are the most common cause of CNS infections, followed by bacterial etiology, and less frequent due to mycosis and other causes. Noncomplicated meningitis is easier to recognize clinically; however, complications of meningitis such as abscesses, infarcts, venous thrombosis, or extra-axial empyemas are difficult to recognize clinically, and imaging plays a very important role on this setting. In addition, it is important to keep in mind that infectious process adjacent to the CNS such as mastoiditis can develop by contiguity in an infectious process within the CNS. We display the most common causes of meningitis and their complications.
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Encéfalo/patologia , Encefalite Viral/patologia , Imageamento por Ressonância Magnética/métodos , Meningites Bacterianas/patologia , Micoses/patologia , Criança , Pré-Escolar , Encefalite Viral/congênito , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Meningites Bacterianas/congênito , Micoses/congênitoRESUMO
Attention-deficit/hyperactivity disorder (ADHD) is the most common behavioral disorder of childhood. Preliminary studies with proton magnetic resonance spectroscopy ((1)H-MRS) of the brain have reported differences in brain metabolite concentration-to-Cr ratios between individuals with ADHD and unaffected controls in several frontal brain regions including anterior cingulate cortex. Using multivoxel (1)H-MRS, we compared 14 individuals affected with ADHD to 20 individuals without ADHD from the same genetic isolate. After controlling by sex, age, and multiple testing, we found significant differences at the right posterior cingulate of the Glx/Cr ratio density distribution function between ADHD cases and controls (P < 0.05). Furthermore, we found several interactions of metabolite concentration-to-Cr ratio, age, and ADHD status: Ins/Cr and Glx/Cr ratios at the left posterior cingulate, and NAA/Cr at the splenius, right posterior cingulate, and at the left posterior cingulate. We also found a differential metabolite ratio interaction between ADHD cases and controls for Ins/Cr and NAA/Cr at the right striatum. These results show that: (1) NAA/Cr, Glx/Cr, and Ins/Cr ratios, as reported in other studies, exhibit significant differences between ADHD cases and controls; (2) differences of these metabolite ratios between ADHD cases and controls evolve in specific and recognizable patterns throughout age, a finding that replicates previous results obtained by structural MRI, where is demonstrated that brain ontogeny follows a different program in ADHD cases and controls; (3) Ins/Cr and NAA/Cr ratios, at the right striatum, interact in a differential way between ADHD cases and controls. As a whole, these results replicate previous 1H-MRS findings and add new intriguing differential metabolic and ontogeny patterns between ADHD cases and controls that warrant further pursue.
Assuntos
Transtorno do Deficit de Atenção com Hiperatividade/metabolismo , Encéfalo/metabolismo , Neuroimagem Funcional/estatística & dados numéricos , Espectroscopia de Ressonância Magnética/métodos , Prótons , Adolescente , Adulto , Ácido Aspártico/análogos & derivados , Ácido Aspártico/metabolismo , Estudos de Casos e Controles , Colina/metabolismo , Creatina/metabolismo , Feminino , Neuroimagem Funcional/métodos , Ácido Glutâmico/metabolismo , Glutamina/metabolismo , Humanos , Inositol/metabolismo , Modelos Lineares , Espectroscopia de Ressonância Magnética/estatística & dados numéricos , Masculino , Pessoa de Meia-Idade , Estatísticas não ParamétricasRESUMO
BACKGROUND: We have previously characterised functional brain abnormalities in young adults at genetic risk for late-onset Alzheimer's disease. To gain further knowledge on the preclinical phase of Alzheimer's disease, we sought to characterise structural and functional MRI, CSF, and plasma biomarkers in a cohort of young adults carrying a high-penetrance autosomal dominant mutation that causes early-onset Alzheimer's disease. METHODS: Between January and August, 2010, 18-26-year-old presenilin 1 (PSEN1) E280A mutation carriers and non-carriers from the Colombian Alzheimer's Prevention Initiative Registry in Medellín Antioquia, Colombia, had structural MRI, functional MRI during associative memory encoding and novel viewing and control tasks, and cognitive assessments. Consenting participants also had lumbar punctures and venepunctures. Outcome measures were task-dependent hippocampal or parahippocampal activations and precuneus or posterior cingulate deactivations, regional grey matter reductions, CSF Aß(1-42), total tau and phospho-tau(181) concentrations, and plasma Aß(1-42) concentrations and Aß(1-42):Aß(1-40) ratios. Structural and functional MRI data were compared using automated brain mapping algorithms and search regions related to Alzheimer's disease. Cognitive and fluid biomarkers were compared using Mann-Whitney tests. FINDINGS: 44 participants were included: 20 PSEN1 E280A mutation carriers and 24 non-carriers. The carrier and non-carrier groups did not differ significantly in their dementia ratings, neuropsychological test scores, or proportion of apolipoprotein E (APOE) É4 carriers. Compared with non-carriers, carriers had greater right hippocampal and parahippocampal activation (p=0·001 and p<0·014, respectively, after correction for multiple comparisons), less precuneus and posterior cingulate deactivation (all p<0·010 after correction), and less grey matter in several parietal regions (all p<0·002 uncorrected and corrected p=0·009 in the right parietal search region). In the 20 participants (ten PSEN1 E280A mutation carriers and ten non-carriers) who had lumbar punctures and venepunctures, mutation carriers had higher CSF Aß(1-42) concentrations (p=0·008) and plasma Aß(1-42) concentrations (p=0·01) than non-carriers. INTERPRETATION: Young adults at genetic risk for autosomal dominant Alzheimer's disease have functional and structural MRI findings and CSF and plasma biomarker findings consistent with Aß(1-42) overproduction. Although the extent to which the underlying brain changes are either neurodegenerative or developmental remain to be determined, this study shows the earliest known biomarker changes in cognitively normal people at genetic risk for autosomal dominant Alzheimer's disease. FUNDING: Banner Alzheimer's Foundation, Nomis Foundation, Anonymous Foundation, Forget Me Not Initiative, Boston University Department of Psychology, Colciencias, National Institute on Aging, National Institute of Neurological Disorders and Stroke, and the State of Arizona.