Measurement of elements by portable x-ray fluorescence spectrometry for the study of adsorption processes: the case of Pb2+adsorption on soybean straw biochar.

This study evaluated the reliability of portable X-ray fluorescence (pXRF) in Pb2+adsorption kinetics and isotherm experiments using soybean straw biochar. The research aimed to compare pXRF results with those obtained through traditional atomic absorption spectrometry (AAS). Soybean straw biochar, produced at 400 °C, was employed as the adsorbent for Pb2+. The efficiency of adsorption was assessed using Langmuir and Freundlich models. The kinetics of Pb2+adsorption was analysed through pseudo-first-order and pseudo-second-order models. The pseudo-second-order model described the kinetics of Pb2+adsorption on biochar better than the pseudo-first order model. Importantly, the pXRF technique demonstrated comparable results to those of AAS, making it a reliable and resource-efficient method for studying Pb2+kinetics. The results of the isotherm analyses fit the Langmuir model, indicating a desirable and irreversible adsorption of Pb2+on biochar. PXRF measurements on biochar allowed simultaneous observations of Pb2+adsorption and K+and Ca2+desorption, highlighting ionic exchange as the primary adsorption mechanism. In conclusion, our results showcased the applicability of pXRF for Pb+2adsorption studies in biochars, offering a valuable alternative to traditional methods. The findings contribute to the understanding of biochar as an effective adsorbent for heavy metals, emphasizing the potential of pXRF for cost-effective and efficient environmental research. In this study, we present a novel and detailed procedure that will allow other researchers to continue their studies on Pb2+adsorption on biochar or similar matrices, significantly reducing the resources and time used and enabling the simultaneous study of the behavior of other ions participating in the process.

Effect of fibrin-rich plasma and collagen sponge on healing of the palatal mucosa.

Background: The purpose was to evaluate the variation in thickness and early healing of the donor area of the palate with the placement of a collagen sponge and the use of fibrin-rich plasma (L-PRF). Material and Methods: Thirty patients who required mucogingival surgery treatment were selected and distributed into 2 groups. After obtaining the free palate graft, L-PRF was placed in Group A, and a collagen sponge was placed in Group B. The healing process of the palate was evaluated at 24 hours and 7, 14, 21 and 28 days postsurgery. The thickness of the donor area (palate) was evaluated using an acrylic splint. These measurements were made before and 4 months after surgery. Results: In the collagen sponge group, less gain of the palatal mucosa was observed, with a mean difference of 0.1 ± 0.8 mm (CI: -0.341-0.518) (p=0.691), whereas in the fibrin-rich plasma group, a mean difference of 0.0 ± 0.5 mm (CI: -0.229-0.229) (p=0.934) was found; however, when comparing the gain of the palatal mucosa in both groups, no significant difference was observed (p=0.932). The healing index at 24 hours indicated the presence of clots, on Day 28 vascularisation and total epithelialisation (100.0%), and finally, the collagen sponge group on Day 14 presented 93.3% partial vascularisation of connective tissue and 33.3% L-PRF (p=0.001). Conclusions: There was no statistically significant difference in the thickness of the palatal mucosa after the use of L-PRF and the collagen sponge. Key words:Palate thickness, connective tissue graft, fibrin-rich plasma, collagen sponge, palate healing.

Laser transfer for circulating tumor cell isolation in liquid biopsy.

75Cancer research has found in the recent years a formidable ally in liquid biopsy, a noninvasive technique that allows the study of circulating tumor cells (CTCs) and biomolecules involved in the dynamics of cancer spread like cell-free nucleid acids or tumor-derived extracellular vesicles. However, single-cell isolation of CTCs with high viability for further genetic, phenotypic, and morphological characterization remains a challenge. We present a new approach for single CTC isolation in enriched blood samples using a liquid laser transfer (LLT) process, adapted from standard laser direct write techniques. In order to completely preserve the cells from direct laser irradiation, we used an ultraviolet laser to produce a blister-actuated laser-induced forward transfer process (BA-LIFT). Using a plasma-treated polyimide layer for blister generation, we completely shield the sample from the incident laser beam. The optical transparency of the polyimide allows direct cell targeting using a simplified optical setup, in which the laser irradiation module, standard imaging, and fluorescence imaging share a common optical path. Peripheral blood mononuclear cells (PBMCs) were identified by fluorescent markers, while target cancer cells remained unstained. As a proof of concept, we were able to isolate single MDA-MB-231 cancer cells using this negative selection process. Unstained target cells were isolated and culture while their DNA was sent for single-cell sequencing (SCS). Our approach appears to be an effective approach to isolate single CTCs, preserving cell characteristics in terms of cell viability and potential for further SCS.

Structure, controlled release mechanisms and health benefits of pectins as an encapsulation material for bioactive food components.

Encapsulation of food and feed ingredients is commonly applied to avoid the loss of functionality of bioactive food ingredients. Components that are encapsulated are usually sensitive to light, pH, oxygen or highly volatile. Also, encapsulation is also applied for ingredients that might influence taste. Many polymers from natural sources have been tested for encapsulation of foods. In the past few years, pectins have been proposed as emerging broadly applicable encapsulation materials. The reasons are that pectins are versatile and inexpensive, can be tailored to meet specific demands and provide health benefits. Emerging new insight into the chemical structure and related health benefits of pectins opens new avenues to use pectins in food and feed. To provide insight into their application potential, we review the current knowledge on the structural features of different pectins, their production and tailoring process for use in microencapsulation and gelation, and the impact of the pectin structure on health benefits and release properties in the gut, as well as processing technologies for pectin-based encapsulation systems with tailor-made functionalities. This is reviewed in view of application of pectins for microencapsulation of different sensitive food components. Although some critical factors such as tuning of controlled release of cargo in the intestine and the impact of the pectin production process on the molecular structure of pectin still need more study, current insight is that pectins provide many advantages for encapsulation of bioactive food and feed ingredients and are cost-effective.

Colgajo de reposición coronal, con y sin injerto de tejido conectivo, para tratar recesiones gingivales / Coronally repositioned flap with and without connective tissue graft to treat gingival recession

Introducción: Las recesiones gingivales son afecciones de las encías, que son muy frecuentes y podrían provocar repercusiones estéticas, hipersensibilidad dentinaria y tener más tendencia a la formación de lesiones cervicales. Es necesario recubrir la superficie radicular mediante técnicas regenerativas periodontales. Objetivo: Comparar la cantidad de recubrimiento radicular, la profundidad al sondaje y el nivel de inserción clínica, empleando las técnicas de colgajo de reposición coronal, con y sin injerto de tejido conectivo, en pacientes con recesiones gingivales Miller I y II. Métodos: Se incluyeron un total de 16 pacientes con recesiones gingivales Miller clase I y II, de los cuales se seleccionaron 50 piezas dentarias tratadas quirúrgicamente para cubrir las recesiones. Se utilizaron las técnicas de colgajo de reposición coronal, con y sin injerto de tejido conectivo. Las mediciones clínicas fueron comparadas al inicio y a los tres meses posoperatorios. Resultados: Al tercer mes poscirugía los resultados del recubrimiento radicular, profundidad al sondaje y el nivel de inserción clínica para la técnica colgajo de reposición coronal con injerto de tejido conectivo, fueron 0,96 ± 1,33; 0,87 ± 0,63; 1,83 ± 1,7 y para la técnica colgajo de reposición coronal fueron 1,44 ± 1,19; 1,04 ± 0,52; 2,48 ± 1,48, respectivamente. Al comparar el recubrimiento radicular intergrupo no se encontraron diferencias significativas (p = 0,11). Sin embargo, al comparar la profundidad al sondaje intergrupo (p = 0,04), el nivel de inserción clínica intergrupo (p = 0,001) y todas las mediciones clínicas intragrupo (p = 0,001), se encontraron diferencias significativas. Conclusiones: La técnica de colgajo de reposición coronal, con y sin injerto de tejido conectivo, demostró diferencias significativas en la profundidad al sondaje y el nivel de inserción clínica en recesiones gingivales Miller I y II. No se alcanzaron diferencias significativas para el recubrimiento radicular en ambas técnicas a los 3 meses de seguimiento(AU)

Introduction: Gingival recession is a very common gum condition which may result in aesthetic alterations and dentin hypersensitivity, and increase the probability of cervical lesions. It is necessary to cover the root surface using periodontal regeneration techniques. Objective: Compare the amount of root coverage, probing depth and clinical insertion level, using coronally repositioned flap techniques with and without connective tissue graft in patients with Miller I and II gingival recessions. Methods: A total 16 patients with Miller class I and II gingival recessions were included in the study, from whom 50 teeth were selected which had been treated surgically to cover the recessions. The techniques used were coronally repositioned flap with and without connective tissue graft. Clinical measurements were compared at the start of the postoperative period and three months later. Results: Three months after surgery, root coverage, probing depth and clinical insertion level were 0.96 ± 1.33; 0.87 ± 0.63; 1.83 ± 1.7, respectively, for coronally repositioned flap with connective tissue graft, and 1.44 ± 1.19; 1.04 ± 0.52; 2.48 ± 1.48, respectively, for coronally repositioned flap. Root coverage intergroup comparison did not find any significant differences (p = 0.11). However, intergroup comparison of probing depth (p = 0.04) and clinical insertion level (p = 0.001), and all the intragroup clinical measurements (p = 0.001) did find significant differences. Conclusions: Coronally repositioned flap technique with and without connective tissue graft showed significant differences in terms of probing depth and clinical insertion level in Miller I and II gingival recessions. At three months' follow-up, no root coverage significant differences were observed for either technique(AU)

Isotopic composition of the eastern gray whale epidermis indicates contribution of prey outside Arctic feeding grounds.

Eastern gray whales' distribution range and plasticity in feeding behavior complicates the understanding of critical life-history such as pregnancy and lactation. Our goal was to determine if females who experienced gestation, gave birth, and lactated their calves, assimilated a high proportion of benthic amphipods from the Bering Sea, which are considered the species' main prey. We used Bayesian stable isotope mixing models to estimate the probability of contribution of food items sampled along the species' distributional range, using isotopic data on amphipods from the Bering Sea, mysids from Vancouver Island, and amphipods and polychaetes from Ojo de Liebre Lagoon. We sampled epidermal tissue from lactating females (n = 25) and calves (n = 34) and analyzed their carbon and nitrogen isotopic composition. Model outcome indicated that benthic amphipods from the Bering Sea were not the primary food for the eastern gray whale. Each mother performed a different feeding strategy, and prey from Vancouver Island were generally as important as that from the Bering Sea. Moreover, model results indicate a constant use of Ojo de Liebre Lagoon as a feeding ground. Our results appear to agree with previous studies that report continuous feeding by females to satisfy certain physiological requirements (e.g., fatty acids omega-6) during migration and breeding time. Future investigations of the isotopic composition of all those prey items that could be assimilated by the eastern gray whale emerge as critical. Both historical and recent information, that would provide insights in the species feeding ecology under past and present environmental conditions, should be considered as equally important to establish conservation and management plans.

Technical Challenges for CTC Implementation in Breast Cancer.

Breast cancer is the most common neoplasm in women worldwide. Tissue biopsy, currently the gold standard to obtain tumor molecular information, is invasive and might be affected by tumor heterogeneity rendering it incapable to portray the complete dynamic picture by the absence of specific genetic changes during the evolution of the disease. In contrast, liquid biopsy can provide unique opportunities for real-time monitoring of disease progression, treatment response and for studying tumor heterogeneity combining the information of DNA that tumors spread in the blood (circulating tumor DNA) with CTCs analysis. In this review, we analyze the technical and biological challenges for isolation and characterization of circulating tumor cells from breast cancer patients. Circulating tumor cell (CTC) enumeration value is included in numerous clinical studies due to the prognostic's role of these cells. Despite this, there are so many questions pending to answer. How to manage lymphocytes background, how to distinguish the CTCs subtypes or how to work with frozen samples, are some of the issues that will discuss in this review. Based on our experience, we try to address these issues and other technical limitations that should be solved to optimize the standardization of protocols, sample extraction procedures, circulating-tumor material isolation (CTCs vs. ctDNA) and the very diverse methodologies employed, aiming to consolidate the use of CTCs in the clinic. Furthermore, we think that new approaches focusing on isolation CTCs in other body fluids such as cerebrospinal or ascitic fluid are necessary to increase the opportunities of circulating tumor cells in the practice clinic as well as to study the promising role of CTC clusters and their prognostic value in metastatic breast cancer.

Activity of docetaxel, carboplatin, and doxorubicin in patient-derived triple-negative breast cancer xenografts.

Triple-negative breast cancer (TNBC) is highly responsive to neoadjuvant polychemotherapy regimens including anthracyclines, taxanes, and, more recently, carboplatin. However, there is inadequate information on the individual contribution of each of these agents to the global activity of the combinations, and the use of combinations of up to four of these drugs is associated with relevant toxicity. Identifying single-drug activity in the clinical neoadjuvant setting is challenging. We developed patient-derived xenografts (PDXs) from several chemotherapy-naïve TNBC samples to assess the antitumor activity of single drugs and combinations of drugs. PDXs were established from chemotherapy-naïve TNBC samples. Nine TNBC PDX models (all of which corresponded to a basal-like phenotype according to the PAM50 classifier) were treated with carboplatin, docetaxel, and doxorubicin and the combination of docetaxel and carboplatin. Only one of nine PDX models showed sensitivity to doxorubicin, while eight of nine PDX models showed sensitivity to docetaxel and carboplatin as single agents. The 3 PDX models derived from patients with gBRCA-1 or gPALB2 mutations were very sensitive to carboplatin single agent. All 6 PDX models from patients without hereditary germ-line mutations showed increased sensitivity to the combination of docetaxel and carboplatin. In the present study, docetaxel and carboplatin single agents were active drugs against basal-like TNBC, while doxorubicin monotherapy showed low activity. The combination of docetaxel and carboplatin was more effective than the drugs used as single agents, except in the PDX from patients with gBRCA1/PALB2 mutations.

Effects of organic matter addition on chronically hydrocarbon-contaminated soil.

Soil is the recipient of organic pollutants as a consequence of anthropogenic activities. Hydrocarbons are contaminants that pose a risk to human and environmental health. Bioremediation of aging contaminated soils is a challenge due to the low biodegradability of contaminants as a result of their interaction with the soil matrix. The aim of this work was to evaluate the effect of both composting and the addition of mature compost on a soil chronically contaminated with hydrocarbons, focusing mainly on the recovery of soil functions and transformations of the soil matrix as well as microbial community shifts. The initial pollution level was 214 ppm of polycyclic aromatic hydrocarbons (PAHs) and 2500 ppm of aliphatic hydrocarbons (AHs). Composting and compost addition produced changes on soil matrix that promoted the release of PAHs (5.7 and 15 % respectively) but not the net PAH elimination. Interestingly, composting stimulated AHs elimination (about 24 %). The lack of PAHs elimination could be attributed to the insufficient PAHs content to stimulate the microbial degrading capacity, and the preferential consumption of easily absorbed C sources by the bacterial community. Despite the low PAH catabolic potential of the aging soil, metabolic shift was driven by the addition of organic matter, which could be monitored by the ratio of Proteobacteria to Actinobacteria combined with E4/E6 ratio. Regarding the quality of the soil, the nutrients provided by the exogenous organic matter contributed to the recovery of the global functions and species diversity of the soil along with the reduction of phytotoxicity.

Improving Real-Time Hand Gesture Recognition with Semantic Segmentation.

Hand gesture recognition (HGR) takes a central role in human-computer interaction, covering a wide range of applications in the automotive sector, consumer electronics, home automation, and others. In recent years, accurate and efficient deep learning models have been proposed for real-time applications. However, the most accurate approaches tend to employ multiple modalities derived from RGB input frames, such as optical flow. This practice limits real-time performance due to intense extra computational cost. In this paper, we avoid the optical flow computation by proposing a real-time hand gesture recognition method based on RGB frames combined with hand segmentation masks. We employ a light-weight semantic segmentation method (FASSD-Net) to boost the accuracy of two efficient HGR methods: Temporal Segment Networks (TSN) and Temporal Shift Modules (TSM). We demonstrate the efficiency of the proposal on our IPN Hand dataset, which includes thirteen different gestures focused on interaction with touchless screens. The experimental results show that our approach significantly overcomes the accuracy of the original TSN and TSM algorithms by keeping real-time performance.

Pigment epithelium-derived factor (PEDF) and PEDF-receptor in the adult mouse brain: Differential spatial/temporal localization pattern.

Pigment epithelium-derived factor (PEDF) is a multifunctional protein which was initially described in the retina, although it is also present in other tissues. It functions as an antioxidant agent promoting neuronal survival. Recently, a PEDF receptor has shown an elevated binding affinity for PEDF. There are no relevant data regarding the distribution of both proteins in the brain, therefore the main goal of this work was to investigate the spatiotemporal presence of PEDF and PEDFR in the adult mouse brain, and to determine the PEDF blood level in mouse and human. The localization of both proteins was analyzed by different experimental methods such as immunohistochemistry, western-blotting, and also by enzyme-linked immunosorbent assay. Differential expression was found in some telencephalic structures and positive signals for both proteins were detected in the cerebellum. The magnitude of the PEDFR labeling pattern was higher than PEDF and included some cortical and subventricular areas. Age-dependent changes in intensity of both protein immunoreactions were found in the cortical and hippocampal areas with greater reactivity between 4 and 8 months of age, whilst others, like the subventricular zones, these differences were more evident for PEDFR. Although ubiquitous presence was not found in the brain for these two proteins, their relevant functions must not be underestimated. It has been described that PEDF plays an important role in neuroprotection and data provided in the present work represents the first extensive study to understand the relevance of these two proteins in specific brain areas.

Evaluation of Buccal Bone Wall Thickness of Anterosuperior Teeth and Nasopalatine Duct Morphology in Cone Beam Computed Tomography of Patients Living at Different Altitudes: A Two-Year Retrospective Study.

AIM: To evaluate the buccal bone wall thickness of anterosuperior teeth and the dimension and morphology of the nasopalatine duct in cone beam computed tomography (CBCT) of patients treated in two cities at different altitudes. MATERIALS AND METHODS: In this retrospective analytical study, 79 CBCT scans were selected from a total of 347 in Juliaca, Peru (3824 m a.s.l.) and 171 CBCT scans were selected from a total of 622 in Lima, Peru (154 m a.s.l.). The buccal bone wall thickness of anterosuperior teeth was measured at 1 mm, 3 mm, and 5 mm from the alveolar crest. For the nasopalatine duct, its length and diameter were measured, and its anatomical shape was determined in coronal view. Descriptive statistical data such as mean and standard deviation were used, and Mann-Whitney U test was used for bivariate analysis. RESULTS: When comparing the CBCT scans from both cities, significant differences were observed in buccal bone wall thickness at 3 mm and 5 mm from the alveolar crest (P < 0.01 and P < 0.01, respectively); for men, at 1 mm and 3 mm (P = 0.04 and P = 0.04); for the age group from 33 to 47 years, at 3 mm and 5 mm (P < 0.01 and P < 0.01); and for the age group from 48 to 77 years, at 1 mm (P = 0.02). Regarding the nasopalatine duct, significant differences were observed in women in relation to length and nasal opening diameter (P < 0.01 and P < 0.01) and for men, in length (P < 0.01); for the age group from 18 to 32 years, in all three levels (P < 0.01); for the age group from 33 to 47 years, in length and diameter of the oral opening (P < 0.01 and P < 0.01); and for the age group from 48 to 77 years, in length and diameter of the nasal opening (P < 0.01 and P < 0.01). The most frequent nasopalatine duct shape was a single canal with more than 66% of cases, according to sex and age group. CONCLUSION: Patients living at different altitudes presented significant differences in buccal bone wall thickness according to sex and age; however, there were no differences related to dental inclination. Significant differences were found in the length and diameter of the nasopalatine duct at the nasal opening. In addition, the most frequent shape of the nasopalatine duct was the simple canal.

Estado epiléptico en pacientes pediátricos: consecuencias evolutivas y actualización epidemiológica / Epileptic status in paediatric patients: its developmental consequences and an epidemiological update

INTRODUCCIÓN: El estado epiléptico representa la emergencia neurológica más frecuente en pediatría. Las convulsiones febriles prolongadas representan la etiología más frecuente. Nuestro objetivo es actualizar su epidemiología y analizar sus consecuencias evolutivas. PACIENTES Y MÉTODOS: Estudio observacional analítico de cohortes retrospectivas de niños atendidos en urgencias con estado epiléptico entre enero de 2014 y diciembre de 2018. Se recogieron las variables demográficas, los antecedentes personales, las características clínicas, las pruebas complementarias y la etiología de los estados epilépticos seguidos en nuestro hospital. Se analizaron las consecuencias evolutivas en cuanto a neurodesarrollo y epilepsia ulterior. RESULTADOS: De un total de 525.000 urgencias atendidas durante el estudio, los casos de estado epiléptico fueron 79 en 68 pacientes (16 casos/100.000 niños/año). La etiología sintomática fue la más frecuente (35,4%). El 20,6% de los pacientes presentaba antecedente de prematuridad; el 30,8%, un déficit del neurodesarrollo previo, más frecuente en caso de etiología sintomática, y el 44% estaba diagnosticado de epilepsia. La duración mediana de las crisis fue de 50 minutos. En siete pacientes se identificó un desencadenante cerebral agudo. El déficit del neurodesarrollo ulterior achacable al estado epiléptico fue del 9,1%, y se relacionó con la etiología sintomática o antecedentes de prematuridad. El desarrollo de epilepsia ocurrió en el 10,7%. CONCLUSIONES: La alteración del neurodesarrollo achacable al estado epiléptico afecta a uno de cada 11 casos. La prematuridad fue un factor de riesgo por sí misma. La epilepsia posterior a un estado epiléptico se desarrolló en uno de cada 10 casos

INTRODUCTION: Epileptic status represents the most frequent neurological emergency in pediatrics. Prolonged febrile seizures represent the most common etiology. Our objective is to update its epidemiology and analyze its evolutionary consequences. PATIENTS AND METHODS: Observational analytical study of retrospective cohorts of children seen in the emergency department with epileptic status between January-2014 and December-2018. Demographic variables, personal history, clinical characteristics, complementary tests and the etiology of the epileptic status followed in our hospital were collected. The evolutionary consequences in terms of neurodevelopment and subsequent epilepsy were analyzed. RESULTS: Of a total of 525,000 emergencies attended during the study, epileptic status cases were 79 in 68 patients (16 cases/100,000 children/year). The symptomatic etiology was the most frequent (35.4%). 20.6% of the patients had a history of prematurity, 30.8% had a deficit of previous neurodevelopment, this being more frequent in case of symptomatic etiology, and 44% were diagnosed with epilepsy. The median duration of seizures was 50 minutes. An acute brain trigger was identified in seven patients. The subsequent neurodevelopmental deficit attributable to epileptic status was 9.1% of patients related to symptomatic etiology and/or a history of prematurity. The development of epilepsy occurred in 10.7%. CONCLUSIONS: The neurodevelopmental disorder attributable to epileptic status affects one in 11 cases. Prematurity was a risk factor per se. Post-epileptic status epilepsy developed in one in 10 cases

Intratumoral nanoplexed poly I:C BO-112 in combination with systemic anti-PD-1 for patients with anti-PD-1-refractory tumors.

Intratumoral therapies, especially Toll-like receptor agonists, can trigger both the innate and adaptive immune systems. BO-112 is a nanoplexed form of polyinosinic:polycytidylic acid (poly I:C) that induces local and systemic immunotherapeutic effects in mouse models. In a multicenter phase 1 clinical trial, repeated intratumoral administrations of BO-112 induced an increase in tumor cell necrosis and apoptosis, as well as augmented immune reactivity according to gene expression profiling. The first three cohorts receiving BO-112 as a monotherapy resulted in a recommended dose of 1 mg that could be safely repeated. Two grade 3 to 4 adverse reactions in the form of reversible thrombocytopenia were reported. In a fourth cohort of 28 patients with tumors that had primary resistance to anti-programmed cell death protein-1 (PD-1), the combination of intratumoral BO-112 with nivolumab or pembrolizumab was also well tolerated, and 3 patients (2 with melanoma and 1 with renal cell carcinoma) achieved partial responses, with 10 more patients having stable disease at 8 to 12 weeks. Thus, local BO-112 combined with a systemic anti-PD-1 agent might be a strategy to revert anti-PD-1 resistance.

Endomycobiome associated with females of the planthopper Delphacodes kuscheli (Hemiptera: Delphacidae): A metabarcoding approach.

A metabarcoding approach was performed aimed at identifying fungi associated with Delphacodes kuscheli (Hemiptera: Delphacidae), the main vector of "Mal de Río Cuarto" disease in Argentina. A total of 91 fungal genera were found, and among them, 24 were previously identified for Delphacidae. The detection of fungi that are frequently associated with the phylloplane or are endophytes, as well as their presence in digestive tracts of other insects, suggest that feeding might be an important mechanism of their horizontal transfer in planthoppers. This study draws the baseline for future research regarding mutualistic associations present in D. kuscheli as well as their physiological role in the life cycle of this important pest that might lead to developing new management strategies to keep insects populations under control.

Discinesia asociada a ADCY5 en la infancia: a propósito de una familia y revisión actualizada / ADCY5-associated dyskinesia in young children: a case report of a family and an updated review

INTRODUCCIÓN: La discinesia de la mutación ADCY5 es un raro trastorno del movimiento de inicio en la infancia. Se caracteriza por movimientos coreicos aislados o asociados a mioclonías y distonías que afectan a las extremidades, el cuello y la cara. El escaso número de pacientes y familias no permite aún una adecuada relación genotipo-fenotipo. OBJETIVOS: Presentar el caso de un niño con trastornos del movimiento de inicio precoz en el seno de una familia con tres generaciones de afectados, y realizar una revisión actualizada de la casuística y el tratamiento de esta rara enfermedad. CASO CLÍNICO: Varón de 6 años, remitido por retraso del lenguaje e hiperactividad. Tras seis meses de seguimiento, comenzó a presentar movimientos coreicos de predominio facial y de la raíz de los miembros, especialmente al despertar. Al año de seguimiento, se evidenció corea generalizado en reposo con afectación orofacial y torpeza en la marcha. Como antecedentes familiares destacaban su madre, abuelo, tío y prima maternos, que fueron diagnosticados de síndrome de Meige (distonía oromandibular y músculos periorbitarios) con trastornos del movimiento de tipo coreiforme sin filiar desde la infancia. El estudio cerebral por resonancia magnética no presentó alteraciones. Se realizó un exoma clínico dirigido a trastornos del movimiento que descubrió la mutación patógena en el gen ADCY5 causante de la discinesia familiar autosómica. CONCLUSIÓN: La mutación c.1126G > A p.A376T muestra una historia natural con un fenotipo clínico no progresivo en tres generaciones de afectados, con inicio en la infancia y respuesta al tratamiento con guanfacina

INTRODUCTION. Dyskinesia of the ADCY5 mutation is a rare movement-onset disorder in childhood. It is characterized by isolated chorea movements or associated with myoclonus and dystonia affecting the limbs, neck and face. The low number of patients and families still does not allow an adequate genotype-phenotype relationship. AIMS. The case of a child with movement disorders of early onset is presented in a family with three generations of affected members. An updated review of the casuistry and management of this rare disease is made. CASE REPORT: A 6-year-old boy referred for language delay and hyperactivity. After six months of follow-up he begins to show chorea movements of predominantly facial and limb roots, especially when waking up. At one year of follow-up, generalized chorea at rest with orofacial involvement and awkward gait begins to show. His family history includes his mother, grandfather, maternal uncle and cousin, who were diagnosed with Meige's syndrome (oromandibular dystonia and periorbital muscles) with choreiform-like movement disorders without affiliation since childhood. The brain study by MRI showed no alterations. A clinical exome targeting movement disorders was performed that discovered the pathogenic mutation in the ADCY5 gene causing autosomal familial dyskinesia. CONCLUSION: The c.1126G>A p.A376T mutation shows a natural history with a non-progressive clinical phenotype in three generations of affected members, with childhood debut and response to guanfacine treatment

Fungal Mitogenomes: Relevant Features to Planning Plant Disease Management.

Mitochondrial genomes (mt-genomes) are characterized by a distinct codon usage and their autonomous replication. Mt-genomes encode highly conserved genes (mt-genes), like proteins involved in electron transport and oxidative phosphorylation but they also carry highly variable regions that are in part responsible for their high plasticity. The degree of conservation of their genes is such that they allow the establishment of phylogenetic relationships even across distantly related species. Here, we describe the mechanisms that generate changes along mt-genomes, which play key roles at enlarging the ability of fungi to adapt to changing environments. Within mt-genomes of fungal pathogens, there are dispensable as well as indispensable genes for survival, virulence and/or pathogenicity. We also describe the different complexes or mechanisms targeted by fungicides, thus addressing a relevant issue regarding disease management. Despite the controversial origin and evolution of fungal mt-genomes, the intrinsic mechanisms and molecular biology involved in their evolution will help to understand, at the molecular level, the strategies for fungal disease management.

Síndrome de Aicardi-Goutières: espectro fenotípico y genético en una serie de 3 casos / Aicardi-Goutières syndrome: Phenotypic and genetic spectrum in a series of three cases

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Hipertensión intracraneal idiopática: casuística y revisión de la bibliografía / Idiopathic intracranial hypertension: epidemiology and current literature review

Introducción: se analizan las características de la hipertensión intracraneal idiopática; clínica al inicio, pruebas realizadas, tratamiento y evolución que presentaron. Material y métodos: estudio descriptivo retrospectivo de los pacientes diagnosticados de hipertensión intracraneal idiopática en los últimos siete años (2011-2017) en un hospital de tercer nivel. Resultados: se estudiaron 40 pacientes (55% mujeres) con una edad media de 9,6 años. Como factores asociados, el 5% seguían tratamiento con hormona del crecimiento. Solo el 25% presentaban sobrepeso u obesidad. El síntoma principal fue cefalea opresiva, asociando vómitos (27,5%) o alteraciones visuales (22%). Tres pacientes presentaron hallazgo casual de papiledema bilateral. La exploración física fue anodina (65%), se observó estrabismo por parálisis del VI par craneal (35%). Presentaron papiledema el 62,5%. La campimetría solo se realizó en el 55% de los pacientes y estaba alterada en el 50% de estos. El tiempo hasta el diagnóstico fue 44,8 días. Obtuvimos una presión de apertura media 29,7 cm H2O (± 8,2). Se realizó tomografía computarizada al 85% de los pacientes y fue normal en el 88,2% de estos. Se hizo resonancia magnética craneal al 7,5%, y fue normal en el 70% de estos. Se practico angio-RM al 5%, y fue normal en todos los casos. Se solicitó analítica, con función renal y hepática (62,5%, todos normal), hormonal (65%), estudio de trombofilias y autoinmunidad (10% y 20% respectivamente, anodinas). Se inició tratamiento con acetazolamida (95%), y hubo que añadir corticoterapia por falta de respuesta en el 24% de los casos. En el 5% se autolimitó espontáneamente. Como último escalón, el 7,5% requirió válvula de derivación lumboperitoneal. Evolucionaron favorablemente el 95%, con recidivas en el 15% de los casos. El tiempo medio hasta la resolución fue de 3,9 meses. Conclusión: el diagnóstico y tratamiento precoz de la hipertensión intracraneal idiopática es importante para evitar posibles secuelas irreversibles. El estudio oftalmológico, especialmente la campimetría, es esencial para el diagnóstico, seguimiento y determinación de la agresividad del tratamiento

Introduction: the characteristics of idiopathic intracranial hypertension are analyzed; epidemiology, clinic at the beginning, tests performed, treatment and evolution that presented the analyzed cases. Material and methods: a retrospective descriptive study was conducted on patients with idiopathic intracra­nial hypertension in the last seven years (2011-2017), in a third level hospital. Results: forty patients (55% women) were studied, with a mean age of 9.6 years. As associated factors, 5% had a treatment with growth hormone. It is important to note that only 25% were overweight or obese. The main symptom was oppressive headache, without predominance hours, associating vomiting (27.5%), or visual alterations (22%). Three asymptomatic patients presented a chance finding of bilateral papilledema. The physical examination was anodyne (65%), showing strabismus due to cranial nerve palsy VI (35%). 62,5% presented papilledema, and the campimetry was only performed in 55% of the patients, altered in 50% of them. The time to diagnosis was 44.8 days. We obtained an average opening pressure of 29.7 cm H2O (± 8.2). CT was performed (85%), being normal (88.2%). MRI of the skull (7.5%), normal (70%). Angio-NMR (5%), all normal. Analytical was requested, with renal and hepatic function (62.5%, all normal), hormonal (65%), thrombophilic study and autoimmunity (10% and 20% respectively, anodyne). Treatment was started with acetazolamide (95%), requiring the addition of corticotherapy due to lack of response 24%. In 5%, it spontaneously self-limited. As a last step, 7.5% required a lumboperitoneal bypass valve. They evolved favora­bly 95%, relapsing 15%. Redialing the average time to resolution was 3.9 months. Conclusion: idiopathic intracranial hypertension is rare, but its diagnosis and early treatment is essential to avoid possible irreversible sequelae. The ophthalmological study, by fundus and especially campimetry, is es­sential for the diagnosis, monitoring and determination of the aggressiveness of the treatment

Concordance of Genomic Variants in Matched Primary Breast Cancer, Metastatic Tumor, and Circulating Tumor DNA: The MIRROR Study.

PURPOSE: Genetic heterogeneity between primary tumors and their metastatic lesions has been documented in several breast cancer studies. However, the selection of therapy for patients with metastatic breast cancer and the search for biomarkers for targeted therapy are often based on findings from the primary tumor, mainly because of the difficulty of distant metastasis core biopsies. New methods for monitoring genomic changes in metastatic breast cancer are needed (ie, circulating tumor DNA [ctDNA] genomic analysis). The objectives of this study were to assess the concordance of genomic variants between primary and metastatic tumor tissues and the sensitivity of plasma ctDNA analysis to identify variants detected in tumor biopsies. PATIENTS AND METHODS: Next-generation sequencing technology was used to assess the genomic mutation profile of a panel of 54 cancer genes in matched samples of primary tumor, metastatic tumor, and plasma from 40 patients with metastatic breast cancer. RESULTS: Using Ion Torrent technology (ThermoFisher Scientific, Waltham, MA), we identified 110 variants that were common to the primary and metastatic tumors. ctDNA analysis had a sensitivity of 0.972 in detecting variants present in both primary and metastatic tissues. In addition, we identified 13 variants in metastatic tissue and ctDNA not present in primary tumor. CONCLUSION: We identified genomic variants present in metastatic biopsies and plasma ctDNA that were not present in the primary tumor. Deep sequencing of plasma ctDNA detected most DNA variants previously identified in matched primary and metastatic tissues. ctDNA might aid in therapy selection and in the search for biomarkers for drug development in metastatic breast cancer.