Comparative study of droplet-digital PCR and absolute Q digital PCR for ctDNA detection in early-stage breast cancer patients.

BACKGROUND: Analysis of circulating tumor DNA (ctDNA) is increasingly used for clinical decision-making in oncology. However, ctDNA could represent ≤ 0.1 % of cell-free DNA in early-stage tumors and its detection requires high-sensitive techniques such as digital PCR (dPCR). METHODS: In 46 samples from patients with early-stage breast cancer, we compared two leading dPCR assays for ctDNA analysis: QX200 droplet digital PCR (ddPCR) system from Bio-Rad which is the gold-standard in the field, and Absolute Q plate-based digital PCR (pdPCR) system from Thermo Fisher Scientific which has not been reported before. We analyzed 5 mL of baseline plasma samples prior to any treatment. RESULTS: Both systems displayed a comparable sensitivity with no significant differences observed in mutant allele frequency. In fact, ddPCR and pdPCR possessed a concordance > 90 % in ctDNA positivity. Nevertheless, ddPCR exhibited higher variability and a longer workflow. Finally, we explored the association between ctDNA levels and clinicopathological features. Significantly higher ctDNA levels were present in patients with a Ki67 score > 20 % or with estrogen receptor-negative or triple-negative breast cancer subtypes. CONCLUSION: Both ddPCR and pdPCR may constitute sensitive and reliable tools for ctDNA analysis with an adequate agreement in early-stage breast cancer patients.

Mutations in AGBL5 associated with Retinitis pigmentosa.

BACKGROUND: Retinitis pigmentosa (RP) is the leading cause of heritable retinal visual impairment. Clinically, it is characterized by a variable onset of progressive night blindness and visual field constriction. RP is characterized by wide genetic heterogeneity with a broad range of potential genes involved in the genesis of this disease. Very few cases have been reported of RP due to pathogenic variants in AGBL5. MATERIALS AND METHODS: We report two patients with RP and bilallelic pathogenic variants in AGBL5. RESULTS: Genetic sequencing showed one homozygous AGBL5 missense variant in one patient and a homozygous nonsense variant in the other. These patients presented with progressive peripheral vision loss and nyctalopia. Their RP phenotypes were similar to previous reports in literature. CONCLUSION: These two cases provide further evidence regarding the relationship of pathogenic variants in AGBL5 as a cause of autosomal recessive RP.

Nonunion of Diaphyseal Humerus Fracture in an Infant: A Case Report.

CASE: A 9-month-old infant girl with Down syndrome presented with an atrophic nonunion of the right humerus diaphysis secondary to birth trauma. Surgical intervention included open reduction and external fixation plus cadaveric cancellous bone allograft and platelet-rich plasma and then was changed to an external fixator in axial compression. At 16 months after surgery, bone healing was achieved. CONCLUSION: Nonunions in infants are rare, and their treatment is a challenge; an adequate vascular supply with good stabilization and reduction are keys to management. We believe that the improvement in reduction and stability under axial compression were the keys to achieve consolidation.

Genetics of the anterior segment dysgenesis.

The anterior segment dysgeneses are a broad group of heterogeneous disorders characterized by developmental abnormalities of the anterior segment of the eye, including primary congenital aphakia, Peters sequence, aniridia, and Axenfeld-Rieger spectrum. These conditions can have overlapping phenotypes and both genotypic and phenotypic heterogeneity. This article provides a strategy for both phenotyping and then genotyping using a targeted stepwise approach.

Microbial Electrochemically Assisted Treatment Wetlands: Current Flow Density as a Performance Indicator in Real-Scale Systems in Mediterranean and Northern European Locations.

A METland is an innovative treatment wetland (TW) that relies on the stimulation of electroactive bacteria (EAB) to enhance the degradation of pollutants. The METland is designed in a short-circuit mode (in the absence of an external circuit) using an electroconductive bed capable of accepting electrons from the microbial metabolism of pollutants. Although METlands are proven to be highly efficient in removing organic pollutants, the study of in situ EAB activity in full-scale systems is a challenge due to the absence of a two-electrode configuration. For the first time, four independent full-scale METland systems were tested for the removal of organic pollutants and nutrients, establishing a correlation with the electroactive response generated by the presence of EAB. The removal efficiency of the systems was enhanced by plants and mixed oxic-anoxic conditions, with an average removal of 56 g of chemical oxygen demand (COD) mbed material -3 day-1 and 2 g of total nitrogen (TN) mbed material -3 day-1 for Ørby 2 (partially saturated system). The estimated electron current density (J) provides evidence of the presence of EAB and its relationship with the removal of organic matter. The tested METland systems reached the max. values of 188.14 mA m-2 (planted system; IMDEA 1), 223.84 mA m-2 (non-planted system; IMDEA 2), 125.96 mA m-2 (full saturated system; Ørby 1), and 123.01 mA m-2 (partially saturated system; Ørby 2). These electron flow values were remarkable for systems that were not designed for energy harvesting and unequivocally show how electrons circulate even in the absence of a two-electrode system. The relation between organic load rate (OLR) at the inlet and coulombic efficiency (CE; %) showed a decreasing trend, with values ranging from 8.8 to 53% (OLR from 2.0 to 16.4 g COD m-2 day-1) for IMDEA systems and from 0.8 to 2.5% (OLR from 41.9 to 45.6 g COD m-2 day-1) for Ørby systems. This pattern denotes that the treatment of complex mixtures such as real wastewater with high and variable OLR should not necessarily result in high CE values. METland technology was validated as an innovative and efficient solution for treating wastewater for decentralized locations.

Community level physiological profiling of microbial electrochemical-based constructed wetlands.

The performance of constructed wetlands (CW) can be enhanced through the use of microbial electrochemical technologies like METland systems. Given its novelty, uncertainties exist regarding processes responsible for the pollutant removal and microbial activity within the systems. Genetic characterization of microbial communities of METlands is desirable, but it is a time and resource consuming. An alternative, is the functional analysis based on community-level physiological profile (CLPP), which allows to evaluate the diversity of microbial communities based on the carbon consumption patterns and derived indexes (average well color development - AWCD -, richness, and diversity). This study aimed to characterize the microbial community function of laboratory-scale METlands using the CLPP method. It encompassed the analysis of planted and non-planted set-ups of two carbon-based electroconductive materials (Coke-A and Coke-LSN) colonized with electroactive biofilms, and compared to Sand-filled columns. Variations in the microbial metabolic activity were found to depend on the characteristics of the material rather than to the presence of plants. Coke-A systems showed lower values of AWCD, richness, and diversity than Sand and Coke-LSN systems. This suggests that Coke-A systems provided more favorable conditions for the development of relatively homogeneous microbial biofilms. Additionally, typical parameters of water quality were measured and correlations between utilization of carbon sources and removal of pollutants were established. The results provide useful insight into the spatial dynamics of the microbial activity of METland systems.

Paquimeningitis relacionada con IgG4 y la visión. Reporte de caso / Ophthalmological manifestations of IgG4-related pachymeningitis. A case repor

Introducción: la inmunoglobulina G4 es un subtipo de inmunoglobulina G que corresponde a menos del 5% del total de inmunoglo-bulinas. Niveles elevados de esta molécula se han asociado con el desarrollo de diferentes patologías. Método: presentación de caso clínico. Resultados: se presenta el caso de una mujer de 51 años que consultó por disminución de agudeza visual, escotoma central en ojo izquierdo y edema de papila bilateral. Se encontraron signos compatibles con paquimeningitis en la resonancia nuclear magnética. También presentó aumento de presión de apertura en la punción lumbar. En el estudio de laboratorio se observó un aumento en los niveles plasmáticos de IgG4, lo cual llevó al diagnóstico de paquimeningitis relacionada con IgG4. La paciente fue tratada con corticoides y azatioprina, con excelente evolución posterior al normalizar agudeza visual y campos visuales. Conclusión: en este artículo se describen tres elementos importantes a considerar en estos pacientes: pérdida de visión, edema de discos ópticos y cambios en campo visual.

Introduction: G4 immunoglobulin is 5% of total immunoglobulins in plasma. Elevated levels of this protein are associated with several diseases. Methods: clinical case report. Results: we report a case of a 51-year-old woman who presented with loss of vision, a central scotoma over her left eye and bilateral optic disc edema. She had findings compatible with pachymeningitis based on magnetic resonance imaging. She also exhibited an increased opening pressure in lumbar puncture. In the laboratory workup, we found a two-fold increase in IgG4 levels, which led to a diagnosis of pachymeningitis related to IgG4. The patient was treated accordingly with corticosteroids and azathioprine. The patient experienced excellent progression with complete recovery of her visual acuity and normalization of the visual fields. Conclusion: there is three elements to consider in these patients: vision loss, optic disc edema and visual field changes.

El trastorno por déficit de atención con hiperactividad: una mirada socio-cultural / Attention-Deficit/Hyperactivity Disorder: a socio-cultural approach

El trastorno por déficit de atención con hiperactividad (TDAH) se ha convertido en uno de los trastornos mentales más diagnosticados en el mundo. Este artículo trata de tomar en consideración elementos que la mayoría de los estudios contemporáneos sobre este trastorno no han examinado en profundidad. En concreto, trata de abordar los componentes socio-culturales que rodean a este síndrome, que no se puede reducir únicamente a déficits neurobiológicos o congénitos. Los conceptos de autonomía y de autocontrol dentro de las sociedades individualistas occidentales permiten enmarcar una serie de polaridades culturales (vicio/virtud) en las que tiene lugar el diagnóstico de este trastorno y su sostenimiento dentro del imaginario colectivo y los discursos sociales predominantes. Asimismo, ayudan a entender las posibles ventajas que conlleva este diagnóstico. Las polaridades del estilo de crianza y el concepto de fracaso escolar son dos elementos que pueden contribuir a mantener vivo el TDAH como patología mayoritariamente infantil de diagnóstico creciente (AU)

Attention-deficit/hyperactivity disorder (ADHD) has become one of the most commonly diagnosed mental disorders in the world. This article takes into account the elements that most of the contemporary studies of this disorder have not examined in great depth. It seeks to address the socio-cultural components surrounding this syndrome, which cannot be reduced to neurobiological or congenital deficits. The concepts of autonomy and self-control within Western individualistic societies allow framing a series of cultural polarities (vice/virtue) where the diagnosis of this disorder and its support in the collective imagination and the prevailing social discourses take place. In addition, these concepts help to understand the possible advantages that this diagnosis may involve. The polarities of parenting style and the concept of school failure are two elements that may contribute to keeping ADHD alive as a child pathology that is being increasingly diagnosed (AU)

Vertical flow-constructed wetlands for domestic wastewater treatment under tropical conditions: effect of different design and operational parameters.

This study assessed the treatment of domestic wastewater to find the optimum vertical flow-constructed wetland (VFCW) configuration under tropical conditions. Eight pilot-scale configurations units were studied to compare between fine sand and medium gravel used as substrate, two feeding frequencies (20 pulses d-1 and 10 pulses d-1), and the presence or absence of tropical plants (Heliconia psittacorum). The results showed that the sand beds were significantly more efficient in the removal of organic matter, ammonia nitrogen, and total suspended solids than gravel beds, presenting average removal rates of 48 and 24 g m-2 d-1 of COD; 35 and 16 g m-2 d-1 of BOD5; 7 and 4 g m-2 d-1 of [Formula: see text]; 9 and 0 g m-2 d-1 for sand and gravel, respectively. The oxygen consumption rates were calculated and a value of 65 g m-2 d-1 was obtained for sand beds while for the gravel beds the consumption rate was 30 g m-2 d-1. The assessment of different kinds of nitrogen showed interesting dynamics in the nitrification processes. The presence of H. psittacorum showed positive effects in the total nitrogen (TN) removal. The different loading frequencies applied did not show significant statistical differences in the removal of the tested contaminants. Preliminary results were found in the pathogen removal, where the sand is favorable as the substrate. This work represents the first step in the research of optimum VFWC design and operation parameters for Colombia as well as the use of plants of the genus Heliconia.

[Epistemic and historical elucidation of the borderline personality disorder]. / Elucidación epistémica e histórica del trastorno de la personalidad límite o borderline.

INTRODUCTION: The particularities of those that have been considered "hard cases" in the clinical field, and their relationship with personality disorders, are discussed together with their quintessential conceptual and diagnostic model: the borderline personalities. The aim of the study is to historically and epistemologically rebuild their origins within psychiatry and psychoanalysis. METHODS AND RESULTS: From a classical epistemological and historical study, a brief tour is made through the nineteenth century alienism and the postulate of "partial insanity". Next, a passage is spawned through the concepts that emerged from this postulate: "monomania" and "moral insanity", up to mid-century Kraepelin and the "fundamental states" of manic-depressive insanity as pathological constitutional forms or characters, and reaching the twentieth century with characterology and psychopathic personalities. Finally, psychoanalysis is analyzed as the main source of borderline personality disorders arising from the problems encountered in analytical treatments and the development of the notion of "character neurosis". CONCLUSIONS: Borderline personality disorders are the result of the conjunction of a number of factors, heirs of the notion of "partial insanity", of the fundamental states of manic-depression insanity, of characterology, of the idea of constitutions and pathological personalities, together with the emerging concerns of psychoanalysis in the early twentieth century.

Elucidación epistémica e histórica del trastorno de la personalidad límite o borderline / Epistemic and historical elucidation of the borderline personality disorder

Introducción: Se exponen las particularidades de los que se han considerado "casos difíciles" en el campo de la clínica y su relación con los trastornos de la personalidad y su modelo conceptual y diagnóstico por excelencia: la personalidad límite o borderline. El objetivo es reconstituir epistemológica e históricamente sus orígenes en la psiquiatría y el psicoanálisis. Métodos y resultados: A partir de un estudio epistemológico e histórico clásico, se hace un breve recorrido a través de la psiquiatría decimonónica, el alienismo y el postulado de la "locura parcial", así como de los conceptos "monomanía" y moral insanity que se desprendieron de este, hasta llegar a la segunda mitad del siglo XIX con Kraepelin y los estados fundamentales de la locura maniaco-depresiva como formas constitucionales o caracteres patológicos propios. Se aborda el siglo XX con la caracterología y las personalidades psicopáticas. Finalmente, se analiza el psicoanálisis como fuente principal de la aparición de los trastornos de la personalidad borderline, a partir de los problemas que surgieron en las curas analíticas y en la elaboración de la noción de "neurosis de carácter". Conclusiones: Los trastornos de la personalidad límite son el resultado de la conjunción de una serie de factores herederos de la noción de "locuras parciales", de los estados fundamentales de la depresión maniaca, de la caracterología y de la idea de constituciones y personalidades patológicas, con las preocupaciones nacientes del psicoanálisis a principios del siglo XX.

Introduction: The particularities of those that have been considered "hard cases" in the clinical field, and their relationship with personality disorders, are discussed together with their quintessential conceptual and diagnostic model: the borderline personalities. The aim of the study is to historically and epistemologically rebuild their origins within psychiatry and psychoanalysis. Methods and results: From a classical epistemological and historical study, a brief tour is made through the nineteenth century alienism and the postulate of "partial insanity". Next, a passage is spawned through the concepts that emerged from this postulate: "monomania" and "moral insanity", up to mid-century Kraepelin and the "fundamental states" of manic-depressive insanity as pathological constitutional forms or characters, and reaching the twentieth century with characterology and psychopathic personalities. Finally, psychoanalysis is analyzed as the main source of borderline personality disorders arising from the problems encountered in analytical treatments and the development of the notion of "character neurosis". Conclusions: Borderline personality disorders are the result of the conjunction of a number of factors, heirs of the notion of "partial insanity", of the fundamental states of manic-depression insanity, of characterology, of the idea of constitutions and pathological personalities, together with the emerging concerns of psychoanalysis in the early twentieth century.

Diet of a sigmodontine rodent assemblage in a Peruvian montane forest.

Knowledge of feeding habits of small rodents is necessary for understanding food webs, trophic structure, and plant-animal interactions in Neotropical forests. Despite several studies that have investigated community structure and feeding behavior of rodents, large gaps remain in our understanding of their guild occupancy. Our objective was to investigate the diets of 7 species of small (< 100g) sympatric sigmodontine rodents in a high (3,500 m) Andean montane rainforest in Peru. We qualitatively and quantitatively assessed diet items in fecal samples from livetrapped rodents from 2009 to 2012. Frequency data for 4 diet categories indicated that all 7 species of rodents contained 4 diet categories in fecal samples: arthropods (88%), remains of leaves and fibers from plants (61%), intact seeds (with or without fruit pulp; 50%), and mycorrhizal spores (45%). Omnivory was found to be a strategy used by all species, although contingency table analysis revealed significant differences among and within species in diet categories. Cluster analysis showed 2 main groupings: that of the Thomasomys spp. plus Calomys sorellus group which included high amounts of intact seeds and plant parts in their fecal samples, and those of the genera Akodon, Microryzomys, Oligoryzomys, which included a greater proportion of arthropods in their fecal samples, but still consumed substantial amounts of fruit and plant parts. Intact seed remains from at least 17 plant species (9 families) were found in fecal samples. We concluded that this assemblage of sigmodontine rodents is omnivorous but that they likely play an important role as frugivores and in seed dispersal in tropical montane forests in Peru. El conocimiento de los hábitos alimenticios de roedores pequeños es necesario para comprender cadenas alimenticias, estructura trófica, e interacciones planta-animal en los bosques neotropicales. A pesar de que numerosos estudios han investigado la estructura de comunidades y el comportamiento de forrajeo en roedores, aún existen grandes vacíos en nuestra comprensión de sus gremios tróficos. Nuestro objetivo fue investigar las dietas de siete especies de pequeños (< 100 g) roedores sigmodontinos simpátricos en un bosque montano andino a 3.500] m en Perú. Cualitativamente y cuantitativamente evaluamos la dieta en muestras fecales de roedores capturados entre el 2009 y el 2012. Datos de frecuencia para cuatro categorías de dieta indicaron que las siete especies de roedores consumieron cuatro categorías de dieta: artrópodos (88%), pedazos de hojas y fibras de plantas (61%), semillas intactas (con o sin pulpa de frutos; 50%), y esporas de micorrizas (45%). Omnivoría fue la estrategia utilizada por todas las especies, aunque el análisis con tablas de contingencia reveló diferencias significativas entre y dentro de especies en categorías de dieta. El análisis de agrupación presentó 2 grupos principales: el grupo Thomasomys spp. y Calomys sorellus, que incluye una gran proporción de semillas intactas, y partes de plantas en las muestras fecales y el grupo que incluye los géneros Akodon, Microryzomys y Oligoryzomys, el cual incluyó una proporción mayor de artrópodos en sus muestras fecales, pero con niveles altos de semillas intactas. Semillas intactas de al menos 17 especies de plantas (9 familias) fueron encontradas en las muestras fecales. Concluimos que este ensamble de roedores sigmodontinos es omnívoro y que probablemente las especies juegan un rol importante como frugívoros y en la dispersión de semillas en los bosques montanos tropicales en el Perú.

Clinical and experimental evidence of supernormal excitability and conduction.

True supernormality of excitability and conduction has been demonstrated in normal Purkinje fibers in in vitro studies. In the clinical setting, supernormality of conduction is manifested better than expected. This phenomenon is much more common than previously thought, particularly in the presence of certain clinical conditions. If a careful scanning of the cardiac cycle is performed on all patients with intermittent bundle branch block and second degree or advanced infranodal AV block, accessory pathways and mulfunctioning pacemakers, it is anticipated that a much larger amount of supernormal excitability and conduction will be unmasked.

La depresión: encrucijada entre las nuevas modalidades del ser y el dispositivo farmacéutico / Depression: crossroads between the new modalities of the being and the pharmaceutical apparatus

Siguiendo la tesis del sociólogo Alain Ehrenberg, la depresión se instaló en las sociedades occidentales como una consecuencia de las nuevas modalidades del individuo. La emancipación y la soberanía individual comenzadas en el siglo de las luces trajeron consigo nuevos malestares de la mente. La neurastenia resume la primera "epidemia" mundial que muestra las consecuencias de estas mutaciones antropológicas. La neurosis y el psicoanálisis demuestran que la depresión y otras formas de sufrimiento de las personas ordinarias son el resultado de un precio a pagar por entrar en la civilización. Para Ehrenberg, la epidemia contemporánea de depresión es el rostro de un eclipse de la culpabilidad y el conflicto interior, favoreciendo una apertura de infinitas posibilidades y la consagración personal como nuevos ideales constitutivos de la personalidad y la identidad, siendo la depresión una disfunción o insuficiencia a convertirse en uno mismo. Sin embargo, las tesis de Ehrenberg no toman en cuenta el esfuerzo realizado por la industria farmacéutica y el dispositivo comercial y de mercadeo creado para modificar las costumbres y el saber médico, facilitando así la explosión diagnóstica y autodiagnóstica de este trastorno controversial.

Based on the thesis of the sociologist Alain Ehrenberg depression settled in Western societies as a result of the consequences of the new types of individuals. The emancipation and sovereignty from the beginning of the Century of Light brought new mind ailments. Neurasthenia is the first "epidemic" as a result of these anthropological mutations. Neurosis and psychoanalysis show that depression and other ailments in ordinary people are but the result of a price to pay when entering civilization. For Ehrenberg, depression which is the contemporary epidemic is the face of an eclipse between guilt and interior conflict, favoring an openness of infinite possibilities and the personal sacredness as new ideals which make the personality and the identity, depression is a dysfunction which does not allow one to become oneself. However, Ehrenberg ́s theses do not take into account the efforts of the pharmaceutical industry or the marketing strategies created to modify costumes, nor the medical knowledge, facilitating the explosion of the diagnosis and self diagnosis of this controversial illness.