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1.
Environ Res ; 262(Pt 1): 119805, 2024 Aug 17.
Artículo en Inglés | MEDLINE | ID: mdl-39159776

RESUMEN

PFAS, known as "forever" compounds, are prevalent in various environments, including soils and aquatic systems, due to extensive usage. Surface waters in several European countries, especially marinas and ports with high boat traffic, require further study as potential contamination sources. Reliable methods for the extraction and quantification of these emergent compounds are essential. This study aimed to improve an existent solid phase extraction method to analyse marinas and ports' surface waters with variable salinities (2, 9 and 17 PSU). The objectives were to: 1) optimise the solid phase extraction method, considering matrix salinity effects and cross-contaminations, 2) validate the extraction and quantification method of 18 EPA 537.1 PFAS in estuarine surface waters, using the Ultra-High Performance Liquid Chromatography - Quadrupole Time - Of - Flight - Tandem Mass spectrometry, and 3) apply the optimised method for PFAS quantification in three Portuguese marinas. All ICH criteria were successfully validated considering 9 PSU. Limits of quantification ranged from 117.80 ng/L to 385 ng/L, except for PFHpA (645.85 ng/L). PFAS levels (PFOA, HFPO-DA, PFBS, PFHxS and PFOS) were relatively low, reaching a maximum of 0.32 ng/L only for the PFOA. In Freixo marina, total average concentrations were slightly higher (∑PFAS = 1.02 ng/L) when compared to the ones found in Cais da Ribeira Port (∑PFAS = 0.94 ng/L) and Afurada marina (∑PFAS = 0.81 ng/L). PFOS concentrations are below the limit values set by the Environmental Quality Standards (36000 ng/L of PFOS for inland surface water, respectively), similar to other Portuguese river studies. This study enabled the development of a precise and reliable extraction and quantification method to quantify PFAS in estuarine surface waters, particularly from marinas. This method can be readily applied to analyse PFAS in other estuarine samples.

3.
Braz J Biol ; 84: e278486, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38985059

RESUMEN

The present study evaluated the hematological, antiparasitic and growth responses in tambaqui (Colossoma macropomum) fed with diets supplemented with the microalgae Arthrospira platensis and Chlorella vulgaris (0%; 10% A. platensis; 10% C. vulgaris; and 5% A. platensis+5% C. vulgaris). Tambaqui (n=60, 62.57 ± 8.76 g) were fed for 20 days with experimental diets. Blood samples collection was done to determine hematological parameters, and gills were removed to identify and count monogenetic parasites. Supplementation with A. platensis 10% reduced red blood cells count, in consequence mean corpuscular volume and mean hemoglobin concentration increased. Total leukocyte, monocyte, eosinophil, and basophil counts reduced with the use of A. platensis. Higher monocytes, eosinophil, and basophil numbers in tambaqui fed with diet supplemented with 10% C. vulgaris were observed and may have been due to the presence of immunostimulants in this microalga composition. Reduction on total cholesterol in tambaqui that received both microalgae (A. platensis 5%+C. vulgaris 5%) may indicate that combined supplementation presented greater benefits to the health for C. macropomum than separately. Both microalgae were efficient against monogenetic parasites of tambaqui. Thus, the dietary use of the microalgae A. platensis and C. vulgaris provided immunostimulant and antiparasitic efficacy in C. macropomum.


Asunto(s)
Chlorella vulgaris , Spirulina , Chlorella vulgaris/química , Animales , Suplementos Dietéticos , Characiformes , Microalgas/química
4.
Sci Total Environ ; 948: 174907, 2024 Oct 20.
Artículo en Inglés | MEDLINE | ID: mdl-39034008

RESUMEN

Microplastics (MPs) are omnipresent in the environment and they are linked to ecosystem and human health problems. The atmospheric transport of MPs and the role of tree leaves in MP atmospheric deposition has not been adequately studied. MP concentrations on the leaves of different tree species in urban regions of the Netherlands and Portugal, along with related MP deposition, were investigated in this study. We collected leaves from cedar, eucalyptus, oak, pine and willow trees, together with monthly deposition of particles under the trees and in the open space in Coimbra (Portugal). In Wageningen (the Netherlands), we collected leaves from a fir and a holly tree at different heights above the ground and with dry and wet weather conditions. MPs were extracted through density separation and quantified under a microscope. Polymer types were identified using µ-FTIR. The results showed a higher number of MP particles on the needle-shaped leaves from fir (2.52 ± 2.14 particles·cm-2) and pine (0.5 ± 0.13 particles·cm-2) and significantly lower numbers of MPs per cm2 of leaf area on the bigger leaves from eucalyptus (0.038 ± 0.003 particles·cm-2) and cedar (0.037 ± 0.002 particles·cm-2). All tree leaves seemed to filter airborne MPs, especially the smallest particles. A non-significantly higher number of particles on leaves was detected on lower tree branches and after dry periods. The deposition of MPs under trees was generally higher than in the open space. Our results indicated that part of the MPs retained by the tree leaves floats down to lower branches and to the soil surface. We also saw that different tree species had different capacities to retain particles on their leaves over time. To control the transport of MPs through the atmosphere, it is essential to consider the role of different vegetation types in filtering small particles, especially in cities.


Asunto(s)
Contaminantes Atmosféricos , Monitoreo del Ambiente , Microplásticos , Hojas de la Planta , Árboles , Hojas de la Planta/química , Contaminantes Atmosféricos/análisis , Portugal , Microplásticos/análisis , Países Bajos , Ciudades
5.
Eur Arch Paediatr Dent ; 25(4): 589-596, 2024 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-38969937

RESUMEN

PURPOSE: This study aimed to analyze, through a hierarchical model, the risk factors associated with the recurrence of chemo-induced oral mucositis (OM) in children and adolescents. METHODS: A retrospective cohort with 31 individuals of both sexes, aged 1-18 years, who were undergoing chemotherapy, and presented OM lesions was conducted. Data collection included analysis of medical records, interviews, and intraoral examination. Information regarding patients' socioeconomic and demographic profile, underlying disease, antineoplastic regimen, hematological condition, and oral health status were collected. To assess the association of independent variables with the outcome, the Chi-square, Fisher's Exact, and Mann-Whitney tests were used, in addition to a binary logistic regression model, with a maximum error of 5% and a 95% confidence interval. RESULTS: Significant associations were observed between the history of OM and the diagnosis of the child/adolescent, neutrophil count, previous cancer treatments and the chemotherapy scheme in use (p < 0.05). Binary logistic regression revealed a 13.69 higher risk of developing OM recurrence in individuals who received high-dose methotrexate (MTX) therapy. CONCLUSION: Socioeconomic and demographic factors did not influence OM recurrence. However, clinical variables, such as neutropenia, diagnosis of leukemia, and high-dose MTX protocols increase the chance of OM new cases.


Asunto(s)
Antineoplásicos , Metotrexato , Recurrencia , Estomatitis , Humanos , Femenino , Masculino , Niño , Estomatitis/inducido químicamente , Estudios Retrospectivos , Adolescente , Preescolar , Lactante , Factores de Riesgo , Antineoplásicos/efectos adversos , Metotrexato/efectos adversos
6.
Int. j. morphol ; 42(3): 837-842, jun. 2024. ilus, tab
Artículo en Español | LILACS | ID: biblio-1564606

RESUMEN

Terminologia Anatomica Internacional publicada el año 2019 en inglés y el 2001 en español contiene los nombres oficiales de las estructuras anatómicas. Sin embargo, existen términos que no están incluidos en esta terminología, y son ampliamente utilizados, es el caso del término músculos isquiotibiales. El objetivo de este trabajo fue analizar la utilización del término músculos isquiotibiales, músculos del compartimento femoral posterior y músculos del compartimento femoral flexor. Se realizó una revisión narrativa que incluyó 37 libros de anatomía, 3 diccionarios de terminología médica y biológica, 10 bases de datos y 15 recursos digitales. En los libros publicados después del año 2001 el 55,6 % utilizaba el término músculos isquiotibiales y el 18,5 % utilizó músculos del compartimento femoral posterior. En ningún diccionario se encontró el uso de los términos músculos isquiotibiales, músculos del compartimento femoral posterior ni músculos del compartimento femoral flexor. En las bases de datos se encontraron 12.104 artículos con el término músculos isquiotibiales, cinco con el término músculos del compartimento femoral posterior y uno con el término músculos del compartimento femoral flexor. En los recursos digitales de anatomía el 50 % utilizaba el término músculos isquiotibiales, el 37,5 % el término músculos del compartimento femoral posterior y el 12,5 % músculos del compartimento femoral flexor. En conclusión, el uso del término músculos isquiotibiales supera ampliamente al uso de los términos indicados por Terminologia Anatomica Internacional. Adicionalmente, este término es anatómicamente descriptivo y unívoco. Al respecto, parece apropiado valorar la incorporación del término músculos isquiotibiales en Terminologia Anatomica Internacional.


SUMMARY: The Terminologia Anatomica published in 2019 in English and 2001 in Spanish conTAIns the official names of anatomical structures. However, there are terms that are not included in this terminology, and are widely used, such as the term "hamstring muscles. The objective of this work was to analyze the use of the terms hamstring muscles, muscles of the posterior compartment of thigh and muscles of the flexor compartment of thigh. A narrative review was carried out that included 37 anatomy books, 3 dictionaries of medical and biological terminology, 10 databases and 15 digital resources. Results: In the books published after 2001, 55.6 % used the term hamstring muscles, 18.5 % muscles of the posterior compartment of thigh and 0 % muscles of the flexor compartment of thigh; In no dictionary was the use of the terms hamstring muscles, muscles of the posterior compartment of thigh or muscles of the flexor compartment of thigh found; In the databases, 12,104 articles were found with the term hamstring muscles, 5 with the term muscles of the posterior compartment of thigh and 1 with the term muscles of the flexor compartment of thigh; In the digital anatomy resources, 50 % used the term hamstring muscles, 37.5 % the term muscles of the posterior compartment of thigh and 12.5 % muscles of the flexor compartment of thigh. In conclusion, the use of the term hamstring muscles far exceeds the use of the terms indicated by the International Anatomical Terminology. Additionally, this term is anatomically descriptive and univocal. In this regard, it seems appropriate to assess the incorporation of the term hamstring muscles in Terminologia Anatomica.


Asunto(s)
Humanos , Músculos Isquiosurales/anatomía & histología , Terminología como Asunto
7.
Braz J Biol ; 84: e280128, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38836801

RESUMEN

This study evaluated the growth performance and parasite load of angelfish juveniles Pterophyllum scalare kept at different stocking densities using two rearing systems. The experiment was conducted in a factorial design (4x2) with four stocking densities (0.1, 0.4, 0.7, and 1.0 g/L), two type of aquarium tanks (glass and ceramic aquariums), and four replicates. The experiment lasted 60 days using 148 juvenile fish (3.05 ± 0.09 g) randomly placed in 32 aquariums (50 L) equipped with filters and aeration. All fish received two meals a day ad libitum (8:00 and 16:00). Water quality parameters such as temperature, dissolved oxygen, pH, and total ammonia were measured. At the end of the experiment, all fish were measured and weighed to determine growth performance and then subjected to parasitological analysis. The data were analyzed with a two-way ANOVA with post-hoc Tukey test (p<0.05). No effects on growth performance at different stocking densities were observed. However, there was an increase in Capillaria pterophylli infestation in the high stocking density within ceramic aquariums. Thus, this study recommends the use of 1.0 g/L for the intensive aquaculture system of freshwater angelfish, and applying cleaning management to avoid parasite infestation, particularly in ceramic aquariums.


Asunto(s)
Carga de Parásitos , Densidad de Población , Animales , Enfermedades de los Peces/parasitología , Acuicultura/métodos
9.
Theriogenology ; 225: 55-66, 2024 Sep 01.
Artículo en Inglés | MEDLINE | ID: mdl-38795511

RESUMEN

This study aims to evaluate the effects of adding alpha lipoic acid (ALA) to the in vitro ovarian tissue culture medium, either fresh or after vitrification/warming. For this purpose, 10 ovaries from five adult sheep were used. Each pair of ovaries gave rise to 16 fragments and were randomly distributed into two groups: fresh (n = 8) and vitrified (n = 8). Two fresh fragments were fixed immediately and considered the control, while another six were cultured in vitro for 14 days in the absence; presence of a constant (100 µM/0-14 day) or dynamic (50 µM/day 0-7 and 100 µM/day 8-14) concentration of ALA. As for the vitrified fragments, two were fixed and the other six were cultured in vitro under the same conditions described for the fresh group. All the fragments were subjected to morphological evaluation, follicular development and stromal density (classical histology), DNA fragmentation (TUNEL), senescence (Sudan Black), fibrosis (Masson's Trichome), and endoplasmic reticulum stress (immunofluorescence). Measurements of the antioxidant capacity against the free radicals 2,2'-azino-bis (3-ethylbenzothiazoline-6-sulfonic acid) (ABTS) and 2,2-diphenyl-1-picryl-hydrazyl-hydrate (DPPH) and estradiol (E2) levels in the culture medium was performed. The results showed that in the absence of ALA, in vitro culture of vitrified ovarian fragments showed a significant reduction (P < 0.05) in follicular morphology and increased the presence of senescence and tissue fibrosis (P < 0.05). Dynamic ALA maintained E2 levels unchanged (P > 0.05) until the end of vitrified ovarian tissue culture and controlled the levels of ABTS and DPPH radicals in fresh or vitrified cultures. Therefore, it is concluded that ALA should be added to the vitrified ovarian tissue in vitro culture medium to reduce the damage that leads to loss of ovarian function. To ensure steroidogenesis during in vitro culture, ALA should be added dynamically (different concentrations throughout culture).


Asunto(s)
Ácido Tióctico , Técnicas de Cultivo de Tejidos , Animales , Femenino , Ácido Tióctico/farmacología , Ovinos , Técnicas de Cultivo de Tejidos/veterinaria , Ovario/efectos de los fármacos , Folículo Ovárico/efectos de los fármacos , Antioxidantes/farmacología , Vitrificación , Criopreservación/veterinaria
10.
Braz J Biol ; 84: e280240, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38695422

RESUMEN

Transporting live fish is a common practice in fish farming, and is certainly one of the main problems that affect fish homeostasis. In this scenario, the use of natural additives has shown promise in improving fish resistance to adverse situations. This study aimed to assess the impact of Ocimum gratissimum L. essential oil (OGEO) on water quality, hematological parameters, and residue levels in the plasma, fillet, and liver of juvenile piraputanga (Brycon hilarii) during a two-hour transportation period. The fish were divided into plastic bags (4 L) and exposed to three different OGEO concentrations (10, 20, and 30 mg L-1), while a control group received no OGEO (three repetitions each). After the two-hour transportation, blood samples were collected, as well as portions of the fillet and liver for quantifying essential oil compounds, which were also measured in the plasma. Oxygen levels remained high throughout the transportation period, in all groups, while the pH decreased. Hemoglobin, MCHC, and MCH increased in fish exposed to OGEO concentrations of 20 and 30 mg L-1, compared to the control group. However, lymphocyte counts and the concentrations of essential oil compounds in plasma, fillet, and liver increased with higher OGEO concentrations. The use of 10 mg L-1 OGEO in the two-hour transport water is promising to ensure the survival and well-being of Brycon hilarii juveniles (weighing 16 g), showing to be safe and effective. The residual concentration of eugenol the major compound of OGEO in the fillet remains below the maximum limit of the recommended daily intake.


Asunto(s)
Hígado , Ocimum , Aceites Volátiles , Calidad del Agua , Animales , Ocimum/química , Aceites Volátiles/química , Hígado/química , Hígado/efectos de los fármacos , Transportes , Characiformes/sangre , Contaminantes Químicos del Agua/análisis
11.
Eur Phys J C Part Fields ; 84(5): 518, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38784120

RESUMEN

Noble element time projection chambers are a leading technology for rare event detection in physics, such as for dark matter and neutrinoless double beta decay searches. Time projection chambers typically assign event position in the drift direction using the relative timing of prompt scintillation and delayed charge collection signals, allowing for reconstruction of an absolute position in the drift direction. In this paper, alternate methods for assigning event drift distance via quantification of electron diffusion in a pure high pressure xenon gas time projection chamber are explored. Data from the NEXT-White detector demonstrate the ability to achieve good position assignment accuracy for both high- and low-energy events. Using point-like energy deposits from 83mKr calibration electron captures (E∼45 keV), the position of origin of low-energy events is determined to 2 cm precision with bias <1mm. A convolutional neural network approach is then used to quantify diffusion for longer tracks (E≥1.5 MeV), from radiogenic electrons, yielding a precision of 3 cm on the event barycenter. The precision achieved with these methods indicates the feasibility energy calibrations of better than 1% FWHM at Qßß in pure xenon, as well as the potential for event fiducialization in large future detectors using an alternate method that does not rely on primary scintillation.

12.
Pulmonology ; 2024 May 03.
Artículo en Inglés | MEDLINE | ID: mdl-38704309

RESUMEN

INTRODUCTION AND AIMS: Workplace exposures are widely known to cause specific occupational diseases such as silicosis and asbestosis, but they also can contribute substantially to causation of common respiratory diseases. In 2019, the American Thoracic Society (ATS) and the European Respiratory Society (ERS) published a joint statement on the occupational burden of respiratory diseases. Our aim on this narrative review is to summarise the most recent evidence published after the ATS/ERS statement as well as to provide information on traditional occupational lung diseases that can be useful for clinicians and researchers. RESULTS: Newer publications confirm the findings of the ATS/ERS statement on the role of workplace exposure in contributing to the aetiology of the respiratory diseases considered in this review (asthma, COPD, chronic bronchitis, idiopathic pulmonary fibrosis, hypersensitivity pneumonitis, infectious pneumonia). Except for COPD, chronic bronchitis and infectious pneumonia, the number of publications in the last 5 years for the other diseases is limited. For traditional occupational lung diseases such as silicosis and asbestosis, there are old as well as novel sources of exposure and their burden continues to be relevant, especially in developing countries. CONCLUSIONS: Occupational exposure remains an important risk factor for airways and interstitial lung diseases, causing occupational lung diseases and contributing substantially in the aetiology of common respiratory diseases. This information is critical for public health professionals formulating effective preventive strategies but also for clinicians in patient care. Effective action requires shared knowledge among clinicians, researchers, public health professionals, and policy makers.

13.
MethodsX ; 12: 102694, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-38633418

RESUMEN

In contrast to traditional beach profiling methods like topographic surveys and GNSS, which pose significant challenges in terms of cost and time, this research underscores the efficiency, cost-effectiveness, and simplicity of terrestrial photogrammetry employing the Structure from Motion-Multi View Stereo (SfM-MVS) method. Notably, this approach enables the utilization of commonplace devices such as smartphones for data capture. The methodology integrates a 12-megapixel camera for image acquisition, processed through Agisoft Metashape Professional software, and validated for accuracy using ground control points (GCPs) and checkpoints (CKPs) calibrated via GNSS. Findings reveal substantial disparities in positional accuracy according to the Ground Control Points distribution. The study underscores the critical role of strategically distributing GCPs and CKPs in effectively mapping coastal areas, thus affirming the potential of SfM-MVS as a powerful and accessible tool for coastal monitoring initiatives. This research contributes significantly to advancing the efficiency and accessibility of beach profile monitoring, offering invaluable insights for researchers and practitioners in coastal management and environmental conservation efforts.•A simplified beach profile modeling methodology is proposed.•The method is faster and more cost-effective than traditional surveys (RTK GNSS, lidar, RPA).•The study highlights the importance of GCP and CKP distribution in enhancing SfM-MVS accuracy for coastal mapping.

14.
J Dairy Sci ; 107(9): 6686-6695, 2024 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-38608938

RESUMEN

Our objective was to estimate the requirements of metabolizable energy (ME) and NEM of lactating and dry cows, the efficiency of ME utilization for milk production (kl) and tissue gain (kg), and the use of body energy mobilization for milk production (kt) throughout the lactation of primiparous crossbred Holstein × Gyr cows, using open-circuit respiration chambers. Twenty-nine primiparous Holstein × Gyr crossbred cows with an initial BW averaging 563 ± 40.1 kg and 2.5 ± 0.09 yr old were used throughout lactation and dry periods. The cows were kept nonpregnant throughout the study to eliminate possible confounding factors. Apparent digestibility assays, followed by calorimeter measurements, were performed 6 times throughout the lactation period. In the dry-off period, the cows were also evaluated but fed with restricted intake (DMI = 1.1% BW/d) to achieve heat production close to maintenance. After 21 d of diet adaptation, an apparent digestibility assay followed by calorimeter measurements was performed. Parameter estimates for lactation period were obtained by mixed models including lactation stage as repeated measures. For restricted feeding at dry-off and fasting period assays, the requirements were estimated by exponential regression. For whole lactation, the values of the ME requirement for maintenance (MEM) and NEM were 0.588 and 0.395 MJ/BW0.75, respectively. The efficiencies of kl, kg, and kt were 0.672, 0.771, and 0.814, respectively. However, MEM and NEM were higher in early and mid lactation than late, whereas kl was higher in early than other lactation stages. Dry and nonpregnant cows had MEM of 0.434 MJ/BW0.75 and NEM of 0.351 MJ/BW0.75 for maintenance level, and MEM of 0.396 MJ/BW0.75 and NEM of 0.345 MJ/BW0.75 for fasting metabolism level, and efficiency of ME utilization for maintenance was 0.80. Our findings confirmed that F1 crossbred Holstein × Gyr dairy cows have differences in energy requirement and efficiency throughout the lactation stages, suggesting the use of different values in each stage. The estimated values of energy requirement for maintenance and efficiencies for primiparous lactating crossbred Holstein × Gyr were similar to those reported in the literature in specific studies and requirements systems.


Asunto(s)
Dieta , Metabolismo Energético , Lactancia , Leche , Animales , Bovinos/fisiología , Femenino , Dieta/veterinaria , Leche/metabolismo , Paridad , Embarazo
15.
Radiography (Lond) ; 30(3): 932-937, 2024 05.
Artículo en Inglés | MEDLINE | ID: mdl-38657386

RESUMEN

INTRODUCTION: Portugal currently hosts 24 active radiotherapy departments, 8 public and 16 privates, presenting potential radiation exposure risks to multidisciplinary teams. Patients in these treatments also face ionising radiation during treatment planning and verification. METHODS: Authorisation and ethical approval were secured for a national online survey, disseminated to radiotherapy departments across Portugal. The survey encompassed three sections: equipment, staff, and radiographer role characterisation; occupational exposure values for one month; and exposure parameters, including computed tomography (CT) dose values [CT dose index (CTDIvol) and dose length product (DLP)] for breast and prostate cancer CT planning. Local Diagnostic Reference Levels (DRLs) derived were based on the 75th percentile of median dose values. RESULTS: The study garnered a 50% response rate from public institutions, 12,5% from private and 25% from all active radiotherapy institutions in Portugal. All departments employ Three-Dimensional Conformal Radiation Therapy (3D-CRT) and incorporate Intensity Modulated Radiation Therapy (IMRT) and/or Volumetric Modulated Arc Therapy (VMAT) irradiation techniques. Additionally, half of the departments also perform Brachytherapy (BT). Radiographers demonstrated an occupational dose of zero mSv. CT planning dose values were 13 mGy and 512 mGy cm for breast CT and 16 mGy and 689 mGy cm for prostate CT, pertaining to CTDIvol and DLP, respectively. CONCLUSION: Most aspects of national radiotherapy characterisation align with the established literature. Occupational exposure values exhibited consistency across radiotherapy modalities. An approach to national DRLs was formulated for breast and prostate CT planning, yielding values congruent with recent European studies. IMPLICATIONS FOR PRACTICE: This study offers vital insights for analysing occupational contexts and risk prevention, serving as the initial characterisation of the national radiotherapy landscape. It also pioneers the calculation of DRLs for CT planning in radiotherapy to optimise procedures.


Asunto(s)
Neoplasias de la Mama , Exposición Profesional , Neoplasias de la Próstata , Tomografía Computarizada por Rayos X , Humanos , Portugal , Masculino , Exposición Profesional/prevención & control , Neoplasias de la Próstata/radioterapia , Neoplasias de la Próstata/diagnóstico por imagen , Femenino , Neoplasias de la Mama/diagnóstico por imagen , Neoplasias de la Mama/radioterapia , Dosis de Radiación , Planificación de la Radioterapia Asistida por Computador/métodos , Encuestas y Cuestionarios , Valores de Referencia , Niveles de Referencia para Diagnóstico
16.
Front Cell Dev Biol ; 12: 1331351, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38465286

RESUMEN

Introduction: Rare disorders that are genetically and clinically heterogeneous, such as mitochondrial diseases (MDs), have a challenging diagnosis. Nuclear genes codify most proteins involved in mitochondrial biogenesis, despite all mitochondria having their own DNA. The development of next-generation sequencing (NGS) technologies has revolutionized the understanding of many genes involved in the pathogenesis of MDs. In this new genetic era, using the NGS approach, we aimed to identify the genetic etiology for a suspected MD in a cohort of 450 Portuguese patients. Methods: We examined 450 patients using a combined NGS strategy, starting with the analysis of a targeted mitochondrial panel of 213 nuclear genes, and then proceeding to analyze the whole mitochondrial DNA. Results and Discussion: In this study, we identified disease-related variants in 134 (30%) analyzed patients, 88 with nuclear DNA (nDNA) and 46 with mitochondrial DNA (mtDNA) variants, most of them being pediatric patients (66%), of which 77% were identified in nDNA and 23% in mtDNA. The molecular analysis of this cohort revealed 72 already described pathogenic and 20 novel, probably pathogenic, variants, as well as 62 variants of unknown significance. For this cohort of patients with suspected MDs, the use of a customized gene panel provided a molecular diagnosis in a timely and cost-effective manner. Patients who cannot be diagnosed after this initial approach will be further selected for whole-exome sequencing. Conclusion: As a national laboratory for the study and research of MDs, we demonstrated the power of NGS to achieve a molecular etiology, expanding the mutational spectrum and proposing accurate genetic counseling in this group of heterogeneous diseases without therapeutic options.

17.
PLoS One ; 19(3): e0299296, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38452005

RESUMEN

Stressed soft materials commonly present viscoelastic signatures in the form of power-law or exponential decay. Although exponential responses are the most common, power-law time dependencies arise peculiarly in complex soft materials such as living cells. Understanding the microscale mechanisms that drive rheologic behaviors at the macroscale shall be transformative in fields such as material design and bioengineering. Using an elastic network model of macromolecules immersed in a viscous fluid, we numerically reproduce those characteristic viscoelastic relaxations and show how the microscopic interactions determine the rheologic response. The macromolecules, represented by particles in the network, interact with neighbors through a spring constant k and with fluid through a non-linear drag regime. The dissipative force is given by γvα, where v is the particle's velocity, and γ and α are mesoscopic parameters. Physically, the sublinear regime of the drag forces is related to micro-deformations of the macromolecules, while α ≥ 1 represents rigid cases. We obtain exponential or power-law relaxations or a transitional behavior between them by changing k, γ, and α. We find that exponential decays are indeed the most common behavior. However, power laws may arise when forces between the macromolecules and the fluid are sublinear. Our findings show that in materials not too soft not too elastic, the rheological responses are entirely controlled by α in the sublinear regime. More specifically, power-law responses arise for 0.3 ⪅ α ⪅ 0.45, while exponential responses for small and large values of α, namely, 0.0 ⪅ α ⪅ 0.2 and 0.55 ⪅ α ⪅ 1.0.


Asunto(s)
Ingeniería Biomédica , Viscosidad , Reología
18.
Braz J Biol ; 83: e277437, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38422256

RESUMEN

The use of residues from coffee production to obtain biochar is a sustainable approach, which aims to minimize the environmental impact of these materials. In this study, the effect of adding coffee straw biochar on the physiological quality of lettuce and sorghum seeds was investigated. Thus, the objective of this work was to study the effect of adding different concentrations of coffee biochar in the substrate composition on the physiological quality of lettuce (Lactuca sativa) and sorghum (Sorghum bicolor) seeds. The experimental design used was completely randomized, with five concentrations of biochar (0; 7.5; 15; 30 and 60%), conducted with four replications of 25 seeds. The use of biochar in the concentrations studied does not provide an increase in the average germination percentage and vigor of lettuce and sorghum seeds. The increase in the concentration of biochar caused less seed vigor, suggesting a toxic effect. For seed germination, there was no significant difference between lettuce and sorghum species, regardless of treatment. For the germination speed index, sorghum seeds have higher means, except for the treatment with the addition of 15% coffee straw biochar. Lettuce seeds have higher shoot length averages, except for treatment with 100% commercial substrate. The sorghum seeds have higher mean root length and dry mass than lettuce, regardless of the treatment.


Asunto(s)
Carbón Orgánico , Germinación , Sorghum , Café , Grano Comestible , Lactuca , Semillas/fisiología
19.
Pulmonology ; 2024 Feb 02.
Artículo en Inglés | MEDLINE | ID: mdl-38309995

RESUMEN

INTRODUCTION AND OBJECTIVES: Hypersensitivity pneumonitis (HP) is an interstitial lung disease with diverse clinical features that can present a fibrotic phenotype similar to idiopathic pulmonary fibrosis (IPF) in genetically predisposed individuals. While several single nucleotide polymorphisms (SNPs) have been associated with IPF, the genetic factors contributing to fibrotic HP (fHP) remain poorly understood. This study investigated the association of MUC5B and TOLLIP variants with susceptibility, clinical presentation and survival in Portuguese patients with fHP. MATERIAL AND METHODS: A case-control study was undertaken with 97 fHP patients and 112 controls. Six SNPs residing in the MUC5B and TOLLIP genes and their haplotypes were analyzed. Associations with risk, survival, and clinical, radiographic, and pathological features of fHP were probed through comparisons among patients and controls. RESULTS: MUC5B rs35705950 and three neighboring TOLLIP variants (rs3750920, rs111521887, and rs5743894) were associated with increased susceptibility to fHP. Minor allele frequencies were greater among fHP patients than in controls (40.7% vs 12.1%, P<0.0001; 52.6% vs 40.2%, P = 0.011; 22.7% vs 13.4%, P = 0.013; and 23.2% vs 12.9%, P = 0.006, respectively). Haplotypes formed by these variants were also linked to fHP susceptibility. Moreover, carriers of a specific haplotype (G-T-G-C) had a significant decrease in survival (adjusted hazard ratio 6.92, 95% CI 1.73-27.64, P = 0.006). Additional associations were found between TOLLIP rs111521887 and rs5743894 variants and decreased lung function at baseline, and the MUC5B SNP and radiographic features, further highlighting the influence of genetic factors in fHP. CONCLUSION: These findings suggest that TOLLIP and MUC5B variants and haplotypes may serve as valuable tools for risk assessment and prognosis in fibrotic hypersensitivity pneumonitis, potentially contributing to its patient stratification, and offer insights into the genetic factors influencing the clinical course of the condition.

20.
Parkinsonism Relat Disord ; 118: 105921, 2024 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-37976978

RESUMEN

BACKGROUND: Data on the long-term survival and incidence of disability milestones after subthalamic nucleus deep brain stimulation (STN-DBS) in Parkinson's disease (PD) is limited. OBJECTIVES: To estimate mortality and assess the frequency/time-to-development of disability milestones (falls, freezing, hallucinations, dementia, and institutionalization) among PD patients post STN-DBS. METHODS: A longitudinal retrospective study of patients undergoing STN-DBS. For mortality, Cox proportional hazards regression analysis was performed. For disease milestones, competing risk analyses were performed and cumulative incidence functions reported. The strength of association between baselines features and event occurrence was calculated based on adjusted hazard ratios. RESULTS: The overall mortality for the 109 patients was 16 % (62.1 ± 21.3 months after surgery). Falls (73 %) and freezing (47 %) were both the earliest (40.4 ± 25.4 and 39.6 ± 28.4 months, respectively) and most frequent milestones. Dementia (34 %) and hallucinations (32 %) soon followed (56.2 ± 21.2 and mean 60.0 ± 20.7 months after surgery, respectively). Higher ADL scores in the OFF state and higher age at surgery were associated with falls, freezing, dementia and institutionalization. CONCLUSIONS: Long-term mortality rate is low after STN-DBS. Disease milestones occur later during the disease course, with motor milestones appearing first and at a higher frequency than cognitive ones.


Asunto(s)
Estimulación Encefálica Profunda , Demencia , Enfermedad de Parkinson , Núcleo Subtalámico , Humanos , Enfermedad de Parkinson/complicaciones , Núcleo Subtalámico/fisiología , Estudios de Seguimiento , Estudios Retrospectivos , Estimulación Encefálica Profunda/efectos adversos , Alucinaciones , Demencia/complicaciones , Resultado del Tratamiento
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