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Single-cell proteomics (SCP) has great potential to advance biomedical research and personalized medicine. The sensitivity of such measurements increases with low-flow separations (<100 nL/min) due to improved ionization efficiency, but the time required for sample loading, column washing, and regeneration in these systems can lead to low measurement throughput and inefficient utilization of the mass spectrometer. Herein, we developed a two-column liquid chromatography (LC) system that dramatically increases the throughput of label-free SCP using two parallel subsystems to multiplex sample loading, online desalting, analysis, and column regeneration. The integration of MS1-based feature matching increased proteome coverage when short LC gradients were used. The high-throughput LC system was reproducible between the columns, with a 4% difference in median peptide abundance and a median CV of 18% across 100 replicate analyses of a single-cell-sized peptide standard. An average of 621, 774, 952, and 1622 protein groups were identified with total analysis times of 7, 10, 15, and 30 min, corresponding to a measurement throughput of 206, 144, 96, and 48 samples per day, respectively. When applied to single HeLa cells, we identified nearly 1000 protein groups per cell using 30 min cycles and 660 protein groups per cell for 15 min cycles. We explored the possibility of measuring cancer therapeutic targets with a pilot study comparing the K562 and Jurkat leukemia cell lines. This work demonstrates the feasibility of high-throughput label-free single-cell proteomics.
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Peptídeos , Proteoma , Cromatografia Líquida/métodos , Células HeLa , Humanos , Peptídeos/análise , Projetos Piloto , Proteoma/análiseRESUMO
Fragile X syndrome (FXS) is the most common cause of inherited intellectual disabilities and autism spectrum disorders, and it is an X-linked disorder in which there is a deficiency of the fragile X mental retardation 1 protein. This protein is crucial in regulating translation of mRNAs related to dendritic maturation and cognitive development. The phenotype of FXS is characterized by neurobehavioral alterations, social deficits, communication difficulties, and findings which suggest an alteration of connective tissue, especially in the ligaments and muscles, cardiovascular system and genitourinary system. Connective tissue connects and supports all other tissues of the body and is composed of cells and extracellular matrix (ECM). Several proteins have been involved in the connective tissue abnormalities associated with the FXS, such as matrix metalloproteinase 9, which plays an important role in the homeostasis of the ECM, being a potential therapeutic target for certain tetracycline antibiotics that have shown beneficial effects in FXS. Here, we review connective tissue problems described in FXS.
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Tecido Conjuntivo/metabolismo , Proteína do X Frágil da Deficiência Intelectual/genética , Síndrome do Cromossomo X Frágil/diagnóstico , Síndrome do Cromossomo X Frágil/etiologia , Estudos de Associação Genética , Predisposição Genética para Doença , Animais , Tecido Conjuntivo/fisiopatologia , Proteínas da Matriz Extracelular/genética , Proteínas da Matriz Extracelular/metabolismo , Proteína do X Frágil da Deficiência Intelectual/metabolismo , Humanos , Especificidade de Órgãos/genética , Organogênese/genética , FenótipoRESUMO
BACKGROUND: To identify controlled clinical trials (CCTs) published in Spanish and in Latin American dental journals, and provide access to this body of evidence in a single source. METHODS: Handsearching, following Cochrane Collaboration guidelines, of CCTs published in Spanish dental journals from Spain and Latin America. For each eligible trial, we collected the dental specialty, the interventions evaluated, whether and how randomisation was achieved, and the corresponding bibliographic reference. RESULTS: We handsearched 107 journals published in Spain and Latin America in Spanish. Over 17 051 articles, 244 (1.43%) were CCTs. These studies focused mainly on periodontics (70, 29.0%) and oral and maxillofacial surgery (66, 27.0%), assessing mostly pharmacological interventions (112, 46.0%). One hundred fifty-three studies (62.7%) used a random allocation of participants to study arms. CONCLUSIONS: A significant number of dental journals published in Spain and Latin America in Spanish language present original research relevant to inform clinical practice. These journals are not indexed in the major electronic databases. PRACTICAL IMPLICATIONS: References to the identified CCTs are now available in CENTRAL, the Cochrane Collaboration repository for these studies. We call for adherence to the CONSORT statement in dentistry to improve reporting of CCTs in journals published in Spanish language.
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Ensaios Clínicos Controlados como Assunto , Odontologia , Odontologia Baseada em Evidências/métodos , Armazenamento e Recuperação da Informação , Publicações Periódicas como Assunto , Bibliometria , Humanos , Idioma , América Latina , EspanhaRESUMO
Endophytes, microorganisms inhabiting internal plant tissues, play a pivotal role in plant growth and disease resistance. Moreover, previous studies have established that Musa plants derive disease protective functions from their microbiome. Notably, one of the crop wild relatives of banana, the Calcutta 4 variety, exhibits resistance to various phytopathogens such as Pseudocercospora fijiensis (P. fijiensis), while the Williams commercial cultivar (cv.) is highly susceptible. Therefore, this study aims primarily to characterize and compare the endophytic microbiota composition of Calcutta 4 and Williams banana plants when grown sympatrically. Alongside, differences in endophytic microbiome between plant sections (shoot or roots), growth phases (in vitro or greenhouse) and fitness factors such as the addition of plant growth-promoting bacteria Bacillus subtilis EA-CB0575 (T2 treatment) or infection by P. fijiensis (T3 treatment) were examined. Both culture-dependent and -independent techniques were used to evaluate these differences and assess the culturability of banana endophytes under varying conditions. Microbial cultures resulted in 331 isolates distributed across 54 genera when all treatments were evaluated, whereas 16â¯S sequencing produced 9510 ASVs assigned in 1456 genera. Alpha and beta diversity exhibited significant differences based on plant section, with an increase in phylogenetic diversity observed in plants with pathogen infection (T3) compared to control plants (T1). Additionally, four differentially abundant genera associated with nitrogen metabolism were identified in T3 plants and seven genera showed differential abundance when comparing varieties. When culture-dependent and -independent methods were compared, it was found that isolates represented 3.7â¯% of the genera detected by culture-independent methods, accounting for 12-41â¯% of the total data depending on the treatment. These results are crucial for proposing management strategies derived from crop wild relatives to enhance the resilience of susceptible commercial varieties against fitness factors affecting crop development. Additionally, they help to decipher the pathogenic effects of P. fijiensis in banana plants and advance the understanding of how plant domestication influences the endosphere.
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Bactérias , Biodiversidade , Endófitos , Microbiota , Musa , Raízes de Plantas , Musa/microbiologia , Endófitos/classificação , Endófitos/isolamento & purificação , Endófitos/genética , Raízes de Plantas/microbiologia , Bactérias/classificação , Bactérias/genética , Bactérias/isolamento & purificação , Doenças das Plantas/microbiologia , RNA Ribossômico 16S/genética , Filogenia , Produtos Agrícolas/microbiologia , Brotos de Planta/microbiologia , Brotos de Planta/crescimento & desenvolvimento , Resistência à DoençaRESUMO
Electrospun nanocomposite scaffolds with improved bioactive and biological properties were fabricated from a blend of polycaprolactone (PCL) and starch, and then combined with 5 wt% of calcium oxide (CaO) nanoparticles sourced from eggshells. SEM analyses showed scaffolds with fibrillar morphology and a three-dimensional structure. The hydrophilicity of scaffolds was improved with starch and CaO nanoparticles, which was evidenced by enhanced water absorption (3500 %) for 7 days. In addition, PCL/Starch/CaO scaffolds exhibited major degradation, with a mass loss of approximately 60 % compared to PCL/Starch and PCL/CaO. The PCL/Starch/CaO scaffolds decreased in crystallinity as intermolecular interactions between the nanoparticles retarded the mobility of the polymeric chains, leading to a significant increase in Young's modulus (ca. 60 %) and a decrease in tensile strength and elongation at break, compared to neat PCL. SEM-EDS, FT-IR, and XRD analyses indicated that PCL/Starch/CaO scaffolds presented a higher biomineralization capacity due to the ability to form hydroxyapatite (HA) in their surface after 28 days. The PCL/Starch/CaO scaffolds showed attractive biological performance, allowing cell adhesion and viability of M3T3-E1 preosteoblastic cells. In vivo analysis using a subdermal dorsal model in Wistar rats showed superior biocompatibility and improved resorption process compared to a pure PCL matrix. This biological analysis suggested that the PCL/Starch/CaO electrospun mats are suitable scaffolds for guiding the regeneration of bone tissue.
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Osso e Ossos , Compostos de Cálcio , Nanopartículas , Óxidos , Poliésteres , Amido , Engenharia Tecidual , Alicerces Teciduais , Amido/química , Poliésteres/química , Engenharia Tecidual/métodos , Alicerces Teciduais/química , Animais , Nanopartículas/química , Óxidos/química , Compostos de Cálcio/química , Ratos , Camundongos , Materiais Biocompatíveis/química , Ratos Wistar , Linhagem Celular , Nanocompostos/químicaRESUMO
Agrobiomass is presented as a suitable alternative to contribute to the fossil fuel decarbonization strategy at the European level. To achieve the ambitious objectives established in this regard: (i) new biomass resources need to be used and therefore initially tested in order to confirm its potential for different applications, such as energy production, and (ii) biomass supply capacity needs to be enlarged; therefore, agroindustries converted into Integrated Biomass Logistic Center (IBLC) can play a key role. In this research, eight different agropellets (blends of wheat straw and maize stalk with forestry wood) were produced in a IBLC and tested in a commercial boiler, comparing the results with previous ones obtained in a fixed bed reactor test campaign and to a base case (woody pellets). This paper includes both individual results in terms of bottom ash, deposition, and a final comparison of ash behavior in both facilities. All biofuels tested showed an adequate performance in terms of efficiency and emissions, being slightly better for the agropellets produced with wheat straw. Regarding sintering and deposition, the tendencies found in the reactor investigation were also observed in the commercial boiler. Moreover, the assessment of the results from the boiler and reactor's tests proved that reactor experiments are representative and may be used to test new biofuels more efficiently in terms of effort and time allocated and could be used to predict sintering and deposition phenomenon occurrence.
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Breast hemangioma is a rare benign tumor in female and extremely rare in males. They are part of vascular tumors. Here, we described the case of a male patient who had a breast hemangioma for 30 years that was diagnosed incidentally in a thorax and abdomen tomography. We briefly review epidemiology, histopathology, clinical, and imaging findings related to breast hemangioma.
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This contribution contains a GPlates digital reconstruction of the northern Andes and southern Caribbean margin for the last 90 Ma. It is built using different strain datasets fully described in "Continental Margin Response to Multiple Arc-Continent Collisions: the Northern Andes-Caribbean Margin" [1]. Two digital reconstructions are included here: one is a rigid block reconstruction, and the other is a continuously closing polygon reconstruction digitized every one -million years. We placed the South and North American plates at the root of the reconstruction tree, so that the Andean blocks move with respect to the former, and the Caribbean Plate, and related intra-oceanic arcs with respect to the latter. These reconstructions can be used as templates to place in palinspastic space any dataset that can be represented by lines or points.
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Resumen Antecedentes: La resonancia magnética (RM) de próstata es uno de los métodos diagnósticos para la identificación del carcinoma de próstata. La escala PI-RADS (Prostate Imaging and Reporting Data System) es el sistema usado para la interpretación de estas imágenes. Es importante, para su reproducibilidad, la estandarización y la evaluación de dicha escala. Objetivo: Determinar la concordancia inter- e intraobservador de la versión 2.1 del PI-RADS. Material y métodos: Estudio observacional retrospectivo, evaluando 129 RM de pacientes con sospecha de cáncer de próstata por tres radiólogos con diferentes años de experiencia y en dos momentos del tiempo, usando el puntaje PI-RADS 2.1. Se evaluó la concordancia intra- e interobservador. Resultados: La concordancia interobservador fue sustancial (kappa > 0,6) en todos los observadores, siendo la categoría 5 la de mayor acuerdo interobservador. Se observó una alta reproducibilidad intraobservardor, con la mayor kappa siendo de 0,856. Cuando se realizó el análisis según años de experiencia de los radiólogos, la concordancia interobservador fue significativa en todos los casos. Conclusiones: El sistema de clasificación PI-RADS 2.1 es reproducible para las diferentes categorías y aumenta la concordancia cuando se trata de lesiones con mayor probabilidad de cáncer clínicamente significativo.
Abstract Background: Magnetic Resonance Imaging (MRI) of the prostate is a key diagnostic tool for identifying prostate carcinoma. The Prostate Imaging-Reporting and Data System (PI-RADS) scale is the standard system for interpreting these images. Standardizing and evaluating this scale is crucial for ensuring consistent and reproducible results. Objective: This study aims to assess both the interobserver and intraobserver agreement of the PI-RADS version 2.1. Material and methods: In this retrospective observational study, 129 prostate MRI scans from patients with suspected prostate cancer were evaluated. Three radiologists, each with different levels of experience, analyzed these scans at two separate times using the PI-RADS 2.1 scoring system. Both intraobserver and interobserver agreements were measured. Results: The study found substantial interobserver agreement (kappa > 0.6) across all categories, with category 5 showing the highest level of agreement. Intraobserver reproducibility was also high, with the highest kappa value reaching 0.856. Further analysis based on the radiologists years of experience revealed significant interobserver agreement in all instances. Conclusions: The PI-RADS 2.1 classification system demonstrates high reproducibility across different categories, particularly for lesions more likely to be clinically significant cancers. This underscores its reliability in varied diagnostic scenarios.
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Nutcracker syndrome is a condition where there is compression of the left renal vein between the aorta and the superior mesenteric artery causing symptoms. Here, we describe the case of a female patient who had symptoms secondary to the compression of a left inferior vena cava between the aorta and the superior mesenteric artery causing a nutcracker syndrome. We will review the etiology, embryology, and imaging of the inferior vena cava and nutcracker syndrome.
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Aim: To assess the research gaps identified in a recent mapping review of orthognathic surgery through their evaluation by clinical experts, leading to a clinically relevant list of research gaps. This will guide future investigations of the topic, focusing on the outcomes of blood loss, infection, and relapse. Methods: The Delphi technique will be used to appraise the identified research gaps. The expert panel will include maxillofacial surgeons who regularly perform orthognathic surgery. Potential participants will be identified through various methods, including contact information from articles in the mapping review, nominations from peers, and social media platforms. Two rounds of surveys will be undertaken with Likert-type and open-ended questions to assess the clinical relevance of research gaps. For the second round, participants will receive a report of the results of the first round. Questions will be modified depending on the answers obtained in the first round. A consensus of 60% will be considered valid. Conclusions: Through this Delphi study, in a collaborative effort between researchers and clinical experts, a comprehensive understanding of the clinical relevance of research gaps in orthognathic surgery will be achieved. The outcomes will guide future investigations, ultimately improving the outcomes and practices in this field.
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Humanos , Técnica Delphi , Guias como Assunto , Cirurgia OrtognáticaRESUMO
Objectives: To assess the risk of bias (RoB) of randomized controlled trials (RCTs) published in dental journals in the Spanish language. Methods: A systematic retrospective survey was conducted of all RCTs published from 1980 to 2019 in dentistry Spanish and Latin American journals. We extracted data and performed RoB assessments using the Cochrane Risk of Bias tool. Results: 292 RCTs published in 51 journals were included. The best-rated domains were incomplete outcome data, selective reporting, and other biases. The domains assessed with higher proportions of an unclear or high risk of bias were sequence generation, allocation concealment, and blinding of outcome assessment. There is a low proportion of RCTs published in Spanish language journals. However, the number has been increasing over the years, and the low risk of bias assessment rates across domains show an increasing trend. Conclusions: A low percentage of Spanish-language dental journals issue RCTs. Our assessment of these RCTs' RoB suggests higher difficulties in the design and conduction phase than in the posterior reporting stage.
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Humanos , Viés , Ensaios Clínicos Controlados Aleatórios como Assunto , Publicação Periódica , Odontologia , Espanha , América LatinaRESUMO
El presente artículo se originó en la necesidad de entender el crimen como una problemática pública, que debe ser analizada a partir de una hipótesis causal que explique el fenómeno delictivo en Colombia con una perspectiva social con diferentes enfoques teóricos, con el fin de establecer líneas de acción para la toma de decisiones de política pública que contribuyan a su reducción. En la primera parte, se presenta la hipótesis causal propuesta y se desarrollan cada uno de sus componentes. Posteriormente, se desarrolla un análisis descriptivo de las denuncias por tipo de delito y de la población privada de la libertad, en la que se identifica las diferencias y las similitudes en las condiciones socioeconómicas para los delitos de mayor incidencia. Por último, se desarrolla un modelo de simulación continua y se analiza el resultado de posibles estrategias de política pública. El resultado obtenido reflejó la necesidad de diseñar políticas públicas pluralistas, que apunten a la solucionar las causas de raíz del fenómeno del crimen, en torno a la construcción social y a la reducción de la impunidad.
This article arose from the need to understand crime as a public problem, which should be analyzed on the basis of a causal hypothesis that explains the criminal phenomenon in Colombia from a social perspective with different theoretical approaches, in order to establish lines of action for public policy decisions that contribute to its reduction. In the first part, the proposed causal hypothesis is presented and each of its components is developed. Subsequently, a descriptive analysis of the reports by type of crime and of the population deprived of liberty is developed, identifying the differences and similarities in the socioeconomic conditions for the crimes with the highest incidence. Finally, a continuous simulation model is developed and the result of possible public policy strategies is analyzed. The result obtained reflected the need to design pluralistic public policies aimed at solving the root causes of the crime phenomenon, in terms of social construction and the reduction of impunity.
Este artigo surgiu da necessidade de entender o crime como um problema público, que deve ser analisado com base em uma hipótese causal que explique o fenômeno criminoso na Colômbia a partir de uma perspectiva social com diferentes abordagens teóricas, a fim de estabelecer linhas de ação para decisões de política pública que contribuam para sua redução. Na primeira parte, é apresentada a hipótese causal proposta e cada um de seus componentes é desenvolvido. Posteriormente, é desenvolvida uma análise descritiva dos relatórios por tipo de crime e da população privada de liberdade, identificando as diferenças e semelhanças nas condições sócio-econômicas para os crimes mais comuns. Finalmente, um modelo de simulação contínua é desenvolvido e o resultado de possíveis estratégias de políticas públicas é analisado. O resultado obtido reflete a necessidade de elaborar políticas públicas pluralistas que visem resolver as causas profundas do fenômeno do crime, em termos de construção social e de redução da impunidade.
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Humanos , Política Pública , Crime , Tomada de Decisões , Prisões , Colômbia , Direitos HumanosRESUMO
Resumen El presente artículo desarrolla un análisis descriptivo cuantitativo sobre el desempeño del sistema a través del cual el Gobierno Colombiano implementa su política pública criminal: sistema judicial, penal y penitenciario. Este estudio no se realiza desde el punto de vista del derecho, sino desde la perspectiva de la evaluación de su efectividad, entendiendo la criminalidad como un problema social. El impacto de este artículo radica en la posibilidad de entender y abordar el fenómeno de la criminalidad desde un enfoque preventivo. Esto, al identificar un desequilibrio dinámico de los componentes del sistema que refuerza el problema, evidenciando deficiencias en la finalidad de la política criminal como política pública debería propender por la prevención del crimen y por el contrario refuerza un ciclo vicioso que incrementa impunidad. Este ciclo ha desgastado operativamente al Estado y ha generado un alto costo como resultado de los altos índices de criminalidad.
Abstract This article performs a descriptive, quantitative analysis of the performance of the system through which the Colombian Government implements its criminal public policy: judicial, criminal justice and penitentiary systems. This study is not performed from the point of view of law, but from a perspective evaluating its effectiveness, considering crime a social issue. This article impacts the possibility of understanding and facing the phenomenon of crime from a preventive approach. This, upon identifying a dynamic imbalance of the system's components, which strengthens the problem, shows deficiencies in the purpose of criminal policy as a public policy that promotes prevention and emphasizes a vicious cycle that increases impunity. This cycle has operationally worn-out the Government and has generated high costs as a result of high crime indices.
Resumo Este artigo desenvolve uma análise descritiva quantitativa sobre o desempenho do sistema por meio do qual o Governo colombiano implementa sua política pública criminal: sistema judicial, penal e penitenciário. Este estudo não é realizado do ponto de vista do direito, mas da perspectiva de avaliar sua eficácia, entendendo o crime como problema social. O impacto deste artigo reside na possibilidade de compreender e abordar o fenómeno do crime a partir de uma abordagem preventiva. Isto, ao identificar um desequilíbrio dinâmico dos componentes do sistema que reforça o problema, mostra deficiências na finalidade da política criminal como política pública que visa à prevenção e acentua um ciclo vicioso que aumenta a impunidade. Este ciclo desgastou operacionalmente o Estado e gerou um custo elevado em decorrência dos altos índices de criminalidade.
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Humanos , Prisões , Crime , Violação de Direitos Humanos , Direitos HumanosRESUMO
Resumen Objetivo: Describir el perfil epidemiológico de los pacientes remitidos al servicio de hospitalización domiciliaria por una institución de tercer nivel en el Valle de Aburrá, en 2015. Metodología: Estudio descriptivo transversal de los pacientes atendidos (n = 4956 pacientes y 109 032 registros). La fuente de información corresponde a la base de datos del servicio de atención domiciliaria durante el año 2015 de una institución de nivel tres en el Valle de Aburrá. Se determinó la distribución por edad, sexo, tipo de patología, ubicación espacial y tipo de manejo del tratamiento. Resultados: El servicio se prestó en su mayoría a mujeres (55 %) cuya edad oscilaba entre los 50 y 90 años. Los pacientes provenían principalmente de los estratos 1, 2 y 3, pertenecientes al régimen contributivo. Las cuatro principales patologías son: enfermedades de la piel y el tejido subcutáneo (cie-10 L00-L99, 32 %) asociadas con el manejo de heridas quirúrgicas, enfermedades del aparato genitourinario (cie-10 N00-N99, 21 %), enfermedades respiratorias (cie-10 J00-J99, 18 %) y las enfermedades infecciosas y parasitarias (cie-10 A00-B99, 7 %). Conclusiones: La hospitalización domiciliaria en el Valle de Aburrá se orienta hacia el cuidado del adulto mayor, en especial a mujeres mayores de 50 años, para las cuales, en su mayoría, su plan de manejo es mediante el suministro de antibióticos.
Abstract Objective: To describe the epidemiological profile of patients referred to the home hospitalization service by a level 3 institution in the Aburrá Valley, in 2015. Methodology: Cross-sectional descriptive study of treated patients (n = 4956 patients and 109 032 records). The source of information corresponds to the 2015 database of the home care service of a level 3 institution in the Aburrá Valley. Distribution was determined by age, sex, type of pathology, spatial location and type of treatment management. Results: The service was provided mostly to women (55%) with ages between 50 and 90 years. Patients came mainly from socioeconomic strata 1, 2 and 3, belonging to the contributory regime. The four main pathologies are: skin and subcutaneous tissue diseases (CIE-10 L00-L99, 32%) associated with management of surgical wounds, genitourinary system diseases (CIE-10 N00-N99, 21%), respiratory diseases (CIE-10 J00-J99, 18%) and infectious and parasitic diseases (CIE-10 A00-B99, 7%). Conclusions: Home hospitalization in the Aburrá Valley focuses in the care of the elderly, especially women over 50, whose management plan involves the supply of antibiotics in the majority of cases.
Resumo Objetivo: Descrever o perfil epidemiológico dos pacientes encaminhados para serviços de assistência domiciliar por uma instituição de nível três no Valle de Aburrá em 2015. Metodologia: Estudo transversal de pacientes tratados (n = 4956 pacientes e 10,032 registros). A fonte de informação corresponde ao banco de dados do serviço de assistência domiciliar durante o ano de 2015 de uma instituição de nível três no Valle de Aburrá. A distribuição foi determinada por idade, sexo, tipo de patologia, localização espacial e tipo de tratamento. Resultados: O serviço foi prestado principalmente para mulheres (55%) cuja idade variou entre 50 e 90 anos. Os pacientes vieram principalmente dos estratos 1, 2 e 3, pertencentes ao regime contributivo. As quatro principais patologias são doenças da pele e do tecido subcutâneo (ICD- 10 L00-L99, 32%) associada com o tratamento de feridas cirúrgicas, doenças do trato geniturinário (ICD-10 N00-N99, 21%), Doenças respiratórias (CID-10 J00-J99, 18%) e doenças infecciosas e parasitárias (CID-10 A00-B99, 7%). Conclusões: A internação domiciliar no Valle de Aburrá é voltada para o cuidado do idoso, principalmente de mulheres com mais de 50 anos, para quem, em sua maioria, o plano de manejo é por meio do fornecimento de antibióticos.
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Resumen El derrame pericárdico es una acumulación excesiva de líquido en el espacio pericárdico, el cual se ha asociado al empleo crónico de minoxidil desde principios de su uso clínico; este es formulado comúnmente a pacientes con hipertensión arterial de difícil control y con enfermedad renal crónica asociada, por su efecto vasodilatador arterial y poco efecto sobre la circulación venosa. Se expone el caso de un paciente quien presentó clínica sugestiva de derrame pericárdico, el cual fue confirmado por imágenes (rayos X, tomografía y ecocardiografía) y quien además se encontraba en tratamiento de hemodiálisis crónica por enfermedad renal crónica secundaria a síndrome nefrótico. En la literatura existen algunos reportes de casos similares, pero no hay estudios con datos concluyentes que permitan establecer un porcentaje claro de asociación ni la causa de esta enfermedad. Con este reporte de caso se busca aumentar la sospecha diagnóstica de esta asociación para que otros clínicos tengan este posible diagnóstico en mente, una vez se hayan descartado otras etiologías adicionales y puedan suspender a tiempo la medicación a fin de evitar desenlaces catastróficos como el taponamiento pericárdico.
Abstract Pericardial effusion is an excessive accumulation of fluid in the pericardial space and has been associated with the long-term use of minoxidil from the beginning of its clinical use. It is commonly prescribed to patients with difficult to control arterial hypertension and associated chronic kidney disease due to it arterial vasodilator effects and little effect of the venous circulation. A case is presented on a patient who had a clinical picture suggestive of a pericardial effusion, which was confirmed by imaging tests (X-ray, tomography, and cardiac ultrasound). She was also on long-term haemodialysis treatment due to chronic kidney disease secondary to a nephrotic syndrome. There are reports of similar cases in the literature, but there are no studies with conclusive data that may help to establish a clear percentage association or the cause of the disease. This case report seeks to increase the diagnostic suspicion of this association so that other clinicians may have this possible diagnosis in mind, once they have ruled out any other. They can then stop the medication on time in order to prevent catastrophic outcomes like pericardiac tamponade.
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Humanos , Masculino , Adulto , Derrame Pericárdico , Ecocardiografia , Tamponamento Cardíaco , Raios X , Tomografia , Insuficiência Renal Crônica , Hipertensão , MinoxidilRESUMO
Fragile X Syndrome (FXS) is a genetic disease due to a CGG trinucleotide expansion, named full mutation (greater than 200 CGG repeats), in the fragile X mental retardation 1 gene locus Xq27.3; which leads to an hypermethylated region in the gene promoter therefore silencing it and lowering the expression levels of the fragile X mental retardation 1, a protein involved in synaptic plasticity and maturation. Individuals with FXS present with intellectual disability, autism, hyperactivity, long face, large or prominent ears and macroorchidism at puberty and thereafter. Most of the young children with FXS will present with language delay, sensory hyper arousal and anxiety. Girls are less affected than boys, only 25% have intellectual disability. Given the genomic features of the syndrome, there are patients with a number of triplet repeats between 55 and 200, known as premutation carriers. Most carriers have a normal IQ but some have developmental problems. The diagnosis of FXS has evolved from karyotype with special culture medium, to molecular techniques that are more sensitive and specific including PCR and Southern Blot. During the last decade, the advances in the knowledge of FXS, has led to the development of investigations on pharmaceutical management or targeted treatments for FXS. Minocycline and sertraline have shown efficacy in children.
El Síndrome de X Frágil (SXF), es una enfermedad genética debida a una expansión del trinucleótido CGG, nombrada mutación completa (más de 200 repeticiones de CGG) en el locus Xq27.3 del gen X fragil de retardo mental; la cual lleva a una hipermetilación de la región promotora del gen, silenciándolo y disminuyendo los niveles de expresión de la proteína X frágil de retardo mental 1, relacionada con la plasticidad y maduración neuronal. Los individuos con SXF presentan retardo mental, autismo, hiperactividad, cara alargada, orejas grandes o prominentes y macroorquidismo desde la pubertad. La mayoría de niños con SXF presentan retraso en el lenguaje, hiperactivación sensorial y ansiedad. Las niñas se afectan menos que los varones, solo el 25% presenta retardo mental. Dadas las características genómicas del síndrome, existen pacientes con un número de repetición de la tripleta entre 55 y 200 que se denominan portadores de la premutación. La mayoría de los portadores tienen un coeficiente intelectual normal, pero presentan problemas en el desarrollo. El diagnóstico en SXF ha evolucionado del cariotipo con medio especial de cultivo, a pruebas moleculares más sensibles y específicas incluyendo PCR y Southern blot. Durante la última década, los avances en el conocimiento sobre el SXF han permitido el desarrollo de investigaciones sobre el manejo farmacológico o tratamientos específicos para el SXF. La minociclina y la sertralina han demostrado eficacia en niños.
Assuntos
Proteína do X Frágil da Deficiência Intelectual/genética , Síndrome do Cromossomo X Frágil/genética , Animais , Southern Blotting , Criança , Metilação de DNA/genética , Feminino , Síndrome do Cromossomo X Frágil/diagnóstico , Síndrome do Cromossomo X Frágil/fisiopatologia , Humanos , Masculino , Mutação , Reação em Cadeia da Polimerase , Regiões Promotoras Genéticas/genética , Fatores Sexuais , Expansão das Repetições de Trinucleotídeos/genéticaRESUMO
Propósito: Describir los hallazgos imagenológicos por resonancia magnética (RM) del hepatocarcinoma difuso, revisar las manifestaciones clínicas y los hallazgos en pruebas de laboratorio. Metodología: Se analizan los hallazgos imagenológicos de dos pacientes con diagnósticos de hepatocarcinoma difuso. Resultados: El primer caso es una paciente de 71 años de edad a quien se le realizó una RM de abdomen que evidenció un hepatocarcinoma difuso, con invasión de la vena hepática derecha y de la vena cava intrahepática, con extensión hasta la aurícula derecha. El segundo, se trata de una paciente de 59 años de edad, con hepatopatía crónica y signos de hipertensión portal. Se diagnosticó un carcinoma hepatocelular difuso con infiltración de la vena cava inferior, trombo tumoral en la vena porta e infiltración de la vía biliar. Conclusión: Es de gran importancia para el radiólogo familiarizarse con los hallazgos por RM del hepatocarcinoma difuso y, de este modo, realizar un diagnóstico y tratamiento oportunos.
Purpose: To describe the MRI findings in diffuse hepatocellular carcinoma and to review the clinical manifestations and laboratory test results. Methods: Abdominal MRI was performed in two patients with confirmed diagnosis of hepatocellular carcinoma. Results: The first case is a 71-yearold female who underwent MR imaging of the abdomen demonstrating diffuse hepatocarcinoma with invasion to the right hepatic vein, intrahepatic vena cava and extension into the right atrium. The second case is a 59-year-old female with chronic hepatic disease and portal hypertension. A diffuse hepatocellular carcinoma was diagnosed with invasion to the inferior vena cava, tumoral thrombus of the portal vein and involvement of the bile ducts. Conclusion: In order to make an early diagnosis and provide opportune treatment, radiologists must be familiarized with MRI findings of diffuse hepatocellular carcinoma such as those presented in our report.
Assuntos
Humanos , Carcinoma Hepatocelular , Imageamento por Ressonância Magnética , Neoplasias HepáticasRESUMO
RESUMEN: Introducción: el objetivo de esta revisión fue determinar el riesgo de hemorragia postoperatoria en pacientes con tratamiento anticoagulante oral (TACO) sometidos a cirugía oral que no suspenden su tratamiento comparado con quienes lo modifican o suspenden. Materiales y métodos: se realizó una búsqueda en CENTRAL, Medline y EMBASE, junto con una revisión manual de revistas especializadas y resúmenes de la IADR. Dos revisores realizaron la selección de estudios, evaluación de riesgo de sesgo y extracción de datos de forma independiente. Se seleccionaron los ensayos clínicos aleatorizados que miden la aparición de hemorragias en pacientes sometidos a procedimientos quirúrgicos orales con TACO en comparación con un grupo que interrumpió o modificó su terapia. Resultados: Solo 5 estudios cumplieron los criterios de inclusión (549 pacientes). El metanálisis mostró que el mantenimiento de la TACO no aumenta el riesgo de hemorragia postoperatoria (riesgo relativo: 1,41 [0,93 - 2,16], IC del 95% p = 0,11) en comparación con la interrupción del tratamiento. Conclusión: Aunque se encontró una mayor cantidad de hemorragia postoperatoria en pacientes con TACO comparado con quienes lo interrumpieron o modificaron, esta diferencia no fue estadística ni clínicamente significativa. Por lo tanto, TACO no debe suspenderse en pacientes sometidos a cirugía oral.
ABSTRACT: Introduction: This systematic review aims to determine the postoperative bleeding risk in patients on oral anticoagulant therapy (OAT) undergoing oral surgical procedures when continuing with the treatment, compared with those modifying or discontinuing the treatment. Materials and methods: A search was performed using CENTRAL, Medline and EMBASE, in conjunction with a manual review of indexes of specialized journals and abstracts of the IADR. Study selection, assessments of risk of bias and data extraction were performed independently by 2 reviewers. Randomized clinical trials measuring the occurrence of bleeding in patients on OAT undergoing oral surgical procedures compared with a group discontinuing or modifying their therapy were selected. Results: A total of 5 studies were included based on inclusion criteria (549 patients). The meta-analysis showed that the maintenance of OAT does not increases the risk of postoperative bleeding (relative risk [RR] 1.41 [0.93 - 2.16]; 95% CI p= 0,11) compared with the discontinuation of therapy. Conclusion: Although a larger quantity of oral postoperative bleeding episodes were found in patients continuing with OAT compared with patients discontinuing or modifying their therapy, this difference was neither statistically nor clinically significant. Therefore, OAT should not be discontinued in patients undergoing oral surgery.