[Autism spectrum disorder: the impact of an online training strategy on the knowledge of the healthcare staff of a tertiary care hospital]. / Trastorno del espectro autista: impacto de una estrategia de formación en línea en los conocimientos del personal sanitario de un hospital de tercer nivel.

INTRODUCTION: Autism spectrum disorder (ASD) often presents related medical disorders that require specialised healthcare. Professionals in the health sector therefore face difficulties that require specific training in the healthcare needs of this population. AIM: The aim of this study is to quantify paediatric healthcare professionals' knowledge about ASD and to assess the impact of online training. SUBJECTS AND METHODS: It is a quasi-experimental, longitudinal, prospective before-and-after study; study subjects: health professionals; independent variable: online training in ASD; dependent variable: knowledge about ASD. An online training course was held for paediatric professionals to address the core characteristics of diagnosis, as well as the needs they present in the hospital context and the adaptations it is recommended that should be carried out. Fifty-eight healthcare professionals took part. RESULTS: An increase in knowledge about ASD was observed at the end of the intervention (from 73.9% to 85% according to the ASD background knowledge questionnaire), which showed that more than 90% of the participants had the highest level of knowledge about ASD. CONCLUSIONS: Online training courses are a useful and effective way to increase knowledge about ASD and the adaptations that are recommended in the hospital setting. More training in ASD should be made available in these settings.

TITLE: Trastorno del espectro autista: impacto de una estrategia de formación en línea en los conocimientos del personal sanitario de un hospital de tercer nivel.Introducción. El trastorno del espectro autista (TEA) frecuentemente presenta trastornos médicos relacionados que requieren una atención sanitaria especializada. En este sentido, los profesionales del ámbito sanitario se enfrentan a dificultades que precisan una formación específica en las necesidades sanitarias que presenta esta población. Objetivo. Cuantificar los conocimientos sobre el TEA de los profesionales sanitarios del área pediátrica y valorar el impacto de una formación en línea. Sujetos y métodos. Estudio cuasi experimental del antes y después, longitudinal y prospectivo; sujetos a estudio: profesionales sanitarios; variable independiente: formación en línea en TEA; variable dependiente: conocimiento sobre el TEA. Se llevó a cabo una formación en línea para profesionales del área de pediatría en la que se abordaron las características nucleares del diagnóstico, así como las necesidades que presentan en el contexto hospitalario y las adaptaciones que se recomiendan llevar a cabo. Participaron 58 profesionales sanitarios. Resultados. Se observó un aumento en el conocimiento sobre el TEA al finalizar la intervención (del 73,9 al 85% según el cuestionario de conocimientos previos del TEA), que mostró que más del 90% de los participantes tenía el grado máximo de conocimiento sobre el TEA. Conclusiones. Las formaciones en línea son un método para ampliar conocimiento útil y eficaz para aumentar el conocimiento sobre el TEA y las adaptaciones que se recomiendan en el ámbito hospitalario. Se recomienda aumentar la disponibilidad de formación sobre TEA en estos entornos.

Socioeconomic effects of establishing a new stroke center in Central Switzerland.

BACKGROUND: Establishment of dedicated Stroke Centers has shown to be effective on the outcome of patients with acute ischemic stroke, as well as mechanical thrombectomy (MTE) in acute large vessel occlusion. The cost-effectiveness of this treatment has also been proven in several countries, but so far not in Switzerland. METHODS: We compare the pathways and economic impact of patients with acute large vessel occlusions causing acute ischemic stroke before the establishment of the stroke center and MTE in 2016 with the time afterwards in the years 2016-2020. Local data from the Swiss Stroke Registry and hospital accounting as well as economic data from a healthcare insurance company was used for evaluation in an economic model. Both payer and societal perspectives were considered, and probabilistic sensitivity analysis was undertaken to explore uncertainty. RESULTS: Establishment of a new Stroke Center in Central Switzerland increased the absolute number of thrombectomies from 0 in 2015 to 55 in 2016 to 83 in 2020, as well as the percentage of MTE in large vessel occlusions (LVO) from 50.9% in 2016 to 58.2% in 2020. Over a 15-year horizon, predicted average additional costs of CHF 7,978 were associated with the establishment of a new stroke center, as well as 0.60 quality-adjusted life-years (QALY) per patient and an additional survival of 0.59 years per patient. The calculated incremental cost-effectiveness ratio was therefore CHF 13,297 per QALY gained. When societal costs were included, the new stroke care model was predicted to dominate the old care model. Robustness of model results was confirmed via probabilistic sensitivity analysis. LIMITATIONS: The results rely on data from a single stroke center and, therefore, cannot be generalized. CONCLUSIONS: Establishment of a new Stroke Center can be cost-effective and provide better outcomes in terms of functional independence as well as quality-adjusted life-years.

Fisioterapia temprana, funcionalidad y complicaciones postoperatorias en adultos con cirugía abdominal de urgencia / Early physiotherapy, functionality, and postoperative complications in adults undergoing emergency abdominal surgery

Introducción Se desconoce la importancia del acceso temprano a la fisioterapia (FT) en personas sometidas a cirugía abdominal de urgencia, por lo tanto este estudio se enfocó en determinar la efectividad de la FT temprana versus tardía en la mejora de niveles funcionales y reducción de complicaciones postoperatorias (CP) en adultos sometidos a este procedimiento. Metodología Estudio retrospectivo que incluyó a 132 pacientes ingresados por cirugía abdominal de urgencia. Se registró el inicio de FT (temprana vs. tardía), se evaluó la funcionalidad mediante índice de Barthel y la puntuación acumulada de deambulación (CAS), las CP y la duración de la estancia hospitalaria. Resultados Las personas que recibieron FT temprana exhibieron CP de menor gravedad (p=0,012). Asimismo, el grupo con FT temprana tuvo estancias hospitalarias más cortas (mediana=10 vs. 17 días; p=0,0001). Adicionalmente, se observó que la funcionalidad intrahospitalaria disminuyó respecto a valores prehospitalarios (índice de Barthel y CAS), mientras que al alta se observaron incrementos parciales, sin diferencias entre los grupos que recibieron FT temprana o tardía. Sin embargo, el grupo con FT temprana requirió un menor número de sesiones de FT motora (p=0,04). Conclusión En el presente estudio el desarrollo de CP de menor gravedad, menores estancias hospitalarias y una menor necesidad de FT motora fue observada en pacientes sometidos a cirugía abdominal de urgencia que recibieron FT temprana respecto a tardía. Esto sugiere que la FT temprana en este contexto optimizaría los recursos asociados a la atención en salud, mejorando además el proceso posquirúrgico en estos pacientes (AU)

Introduction Given that the relevancy of early physiotherapy (PT) in persons undergoing emergency abdominal surgery is unknown, this study aimed to determine the effectiveness of early versus late physiotherapy in improving functional levels and reducing postoperative complications (PC) in adults undergoing this procedure. Methodology Longitudinal retrospective study which included a sample of 132 patients admitted for emergency abdominal surgery. Functionality was evaluated using the Barthel index and the cumulated ambulation score (CAS). In addition, the type of PT (early vs. late) and the date of its onset were recorded, the PC during the hospital stay and the length of stay were recorded. Results Patients that received early PT exhibited less severe postoperative complications (p=0.012). Moreover, this group had a shorter length of stay (median=10 vs. 17 days; p=0.0001). In addition, in terms of functionality, decreases were observed during hospitalization compared with baseline levels (Barthel index and CAS), whereas a partial increase was observed at discharge, without differences between the patients that received early PT or not. Nevertheless, the early PT group required a lower number of PT sessions (p=0.04). Conclusion In this study, a less severe postoperative complications rate, shorter length of stay, and lower necessity of PT sessions were observed in adults undergoing emergency abdominal surgery that received early PT versus late PT. This suggests that early PT in this context would optimize health care resources, improving the postoperative process in these patients (AU)

Deep learning for improving ZTE MRI images in free breathing.

INTRODUCTION: Despite a growing interest in lung MRI, its broader use in a clinical setting remains challenging. Several factors limit the image quality of lung MRI, such as the extremely short T2 and T2* relaxation times of the lung parenchyma and cardiac and breathing motion. Zero Echo Time (ZTE) sequences are sensitive to short T2 and T2* species paving the way to improved "CT-like" MR images. To overcome this limitation, a retrospective respiratory gated version of ZTE (ZTE4D) which can obtain images in 16 different respiratory phases during free breathing was developed. Initial performance of ZTE4D have shown motion artifacts. To improve image quality, deep learning with fully convolutional neural networks (FCNNs) has been proposed. CNNs has been widely used for MR imaging, but it has not been used for improving free-breathing lung imaging yet. Our proposed pipeline facilitates the clinical work with patients showing difficulties/uncapable to perform breath-holding, or when the different gating techniques are not efficient due to the irregular respiratory pace. MATERIALS AND METHODS: After signed informed consent and IRB approval, ZTE4D free breathing and breath-hold ZTE3D images were obtained from 10 healthy volunteers on a 1.5 T MRI scanner (GE Healthcare Signa Artist, Waukesha, WI). ZTE4D acquisition captured all 16 phases of the respiratory cycle. For the ZTE breath-hold, the subjects were instructed to hold their breath in 5 different inflation levels ranging from full expiration to full inspiration. The training dataset consisting of ZTE-BH images of 10 volunteers was split into 8 volunteers for training, 1 for validation and 1 for testing. In total 800 ZTE breath-hold images were constructed by adding Gaussian noise and performing image transformations (translations, rotations) to imitate the effect of motion in the respiratory cycle, and blurring from varying diaphragm positions, as it appears for ZTE4D. These sets were used to train a FCNN model to remove the artificially added noise and transformations from the ZTE breath-hold images and reproduce the original quality of the images. Mean squared error (MSE) was used as loss function. The remaining 2 healthy volunteer's ZTE4D images were used to test the model and qualitatively assess the predicted images. RESULTS: Our model obtained a MSE of 0.09% on the training set and 0.135% on the validation set. When tested on unseen data the predicted images from our model improved the contrast of the pulmonary parenchyma against air filled regions (airways or air trapping). The SNR of the lung parenchyma was quantitatively improved by a factor of 1.98 and the CNR lung- blood, which is indicating the visibility of the intrapulmonary vessels, was improved by 4.2%. Our network was able to reduce ghosting artifacts, such as diaphragm movement and blurring, and enhancing image quality. DISCUSSION: Free-breathing 3D and 4D lung imaging with MRI is feasible, however its quality is not yet acceptable for clinical use. This can be improved with deep learning techniques. Our FCNN improves the visual image quality and reduces artifacts of free-breathing ZTE4D. Our main goal was rather to remove ghosting artifacts from the ZTE4D images, to improve diagnostic quality of the images. As main results of the network, diaphragm contour increased with sharper edges by visual inspection and less blurring of the anatomical structures and lung parenchyma. CONCLUSION: With FCNNs, image quality of free breathing ZTE4D lung MRI can be improved and enable better visualization of the lung parenchyma in different respiratory phases.

Developing a portable field unit to improve well-child care.

BACKGROUND: Pediatric growth tracking has been identified as a top priority by international health agencies to assess the severity of malnutrition and stunting. However, remote low-resource settings often lack the necessary infrastructure for longitudinal analysis of growth for the purposes of early identification and immediate intervention of stunting. METHODS: To address this gap, we developed a portable field unit (PFU) capable of identifying a child over the course of multiple visits, each time adding new anthropomorphic measurements. We conducted a preliminary field evaluation of the PFU by using the unit on two distinct visits to three schools in the area surrounding a medical clinic in rural San Jose, Honduras. The unit was used to assess children at each school as part of the community outreach. RESULTS: Community outreaches to three schools were conducted by two distinct teams, where they used the device to assess 210 children. Of the 180 children registered during the first visit, 112 were re-identified and assessed on the subsequent visit. Twenty-four instances of moderate-to-severe malnutrition were identified and referred for further evaluation to the central clinic. CONCLUSION: This initial assessment suggests that the PFU could be an effective means of identifying at-risk children.

CONTEXTE: Les organismes internationaux de santé ont identifié le suivi de la croissance des enfants comme une priorité absolue pour évaluer la gravité de la malnutrition et les retards de croissance. Cependant, les zones reculées à faibles ressources n'ont souvent pas les infrastructures nécessaires à l'analyse longitudinale de la croissance à des fins d'identification précoce et d'intervention immédiate de lutte contre les retards de croissance. MÉTHODES: Pour combler ces lacunes, nous avons développé un appareil portatif de terrain (PFU) capable d'identifier un même enfant lors de plusieurs visites et d'ajouter les nouvelles mesures anthropomorphiques de chaque visite. Nous avons réalisé une évaluation de terrain préliminaire du PFU en utilisant l'appareil lors de deux visites différentes dans trois écoles de la zone rurale aux alentours d'une clinique médicale de San Jose, Honduras. L'appareil a été utilisé pour évaluer les enfants de chaque école dans le cadre d'un programme de sensibilisation communautaire. RÉSULTATS: Des programmes de sensibilisation communautaire ont été menés dans trois écoles par deux équipes différentes, qui ont utilisé l'appareil pour évaluer 210 enfants. Sur les 180 enfants enregistrés lors de la première visite, 112 ont été de nouveau identifiés et évalués lors de la visite suivante. Vingt-quatre cas de malnutrition modérée à sévère ont été identifiés et adressés pour examen complémentaire à la clinique centrale. CONCLUSION: Cette évaluation initiale suggère que le PFU pourrait être un moyen efficace d'identification des enfants à risque.

A Multi-Center, Multi-Vendor Study to Evaluate the Generalizability of a Radiomics Model for Classifying Prostate cancer: High Grade vs. Low Grade.

Radiomics applied in MRI has shown promising results in classifying prostate cancer lesions. However, many papers describe single-center studies without external validation. The issues of using radiomics models on unseen data have not yet been sufficiently addressed. The aim of this study is to evaluate the generalizability of radiomics models for prostate cancer classification and to compare the performance of these models to the performance of radiologists. Multiparametric MRI, photographs and histology of radical prostatectomy specimens, and pathology reports of 107 patients were obtained from three healthcare centers in the Netherlands. By spatially correlating the MRI with histology, 204 lesions were identified. For each lesion, radiomics features were extracted from the MRI data. Radiomics models for discriminating high-grade (Gleason score ≥ 7) versus low-grade lesions were automatically generated using open-source machine learning software. The performance was tested both in a single-center setting through cross-validation and in a multi-center setting using the two unseen datasets as external validation. For comparison with clinical practice, a multi-center classifier was tested and compared with the Prostate Imaging Reporting and Data System version 2 (PIRADS v2) scoring performed by two expert radiologists. The three single-center models obtained a mean AUC of 0.75, which decreased to 0.54 when the model was applied to the external data, the radiologists obtained a mean AUC of 0.46. In the multi-center setting, the radiomics model obtained a mean AUC of 0.75 while the radiologists obtained a mean AUC of 0.47 on the same subset. While radiomics models have a decent performance when tested on data from the same center(s), they may show a significant drop in performance when applied to external data. On a multi-center dataset our radiomics model outperformed the radiologists, and thus, may represent a more accurate alternative for malignancy prediction.

Classification of Clinically Significant Prostate Cancer on Multi-Parametric MRI: A Validation Study Comparing Deep Learning and Radiomics.

The computer-aided analysis of prostate multiparametric MRI (mpMRI) could improve significant-prostate-cancer (PCa) detection. Various deep-learning- and radiomics-based methods for significant-PCa segmentation or classification have been reported in the literature. To be able to assess the generalizability of the performance of these methods, using various external data sets is crucial. While both deep-learning and radiomics approaches have been compared based on the same data set of one center, the comparison of the performances of both approaches on various data sets from different centers and different scanners is lacking. The goal of this study was to compare the performance of a deep-learning model with the performance of a radiomics model for the significant-PCa diagnosis of the cohorts of various patients. We included the data from two consecutive patient cohorts from our own center (n = 371 patients), and two external sets of which one was a publicly available patient cohort (n = 195 patients) and the other contained data from patients from two hospitals (n = 79 patients). Using multiparametric MRI (mpMRI), the radiologist tumor delineations and pathology reports were collected for all patients. During training, one of our patient cohorts (n = 271 patients) was used for both the deep-learning- and radiomics-model development, and the three remaining cohorts (n = 374 patients) were kept as unseen test sets. The performances of the models were assessed in terms of their area under the receiver-operating-characteristic curve (AUC). Whereas the internal cross-validation showed a higher AUC for the deep-learning approach, the radiomics model obtained AUCs of 0.88, 0.91 and 0.65 on the independent test sets compared to AUCs of 0.70, 0.73 and 0.44 for the deep-learning model. Our radiomics model that was based on delineated regions resulted in a more accurate tool for significant-PCa classification in the three unseen test sets when compared to a fully automated deep-learning model.

MODY 2 causado por mutaciones en la glucoquinasa: una aproximación a nivel molecular / MODY 2 caused by glucokinase mutations: a molecular approach

La diabetes MODY 2 es un tipo de diabetes monogénica producida por una mutación en la enzima glucoquinasa, generando un fenotipo hiperglicémico. Para posibles fines terapéuticos o de diagnóstico, se debe conocer esta proteína, una enzima monomérica de la familia de las hexoquinasas, encargadas de convertir glucosa en glucosa-6-fosfato, el primer paso de la glicolisis. La glucoquinasa se caracteriza por sus propiedades cinéticas únicas: tiene una afinidad mucho menor por el sustrato que las demás hexoquinasas y no es inhibida por su producto. Se encuentra principalmente en páncreas e hígado (ßGK y LGK, respectivamente), donde como sensor regula los distintos estados metabólicos de estos tejidos, y controla la glicemia a nivel sistémico. Las formas ßGK y LGK se diferencian a nivel transcripcional, pues el gen posee dos promotores distintos, específicos para cada tejido. A nivel hormonal, la actividad de esta enzima es regulada selectivamente de manera tejido-específica por glucosa, insulina y otras proteínas reguladoras. La isoforma hepática puede ser secuestrada hacia el núcleo por la proteína reguladora de glucoquinasa (GKRP, por su sigla en inglés). La principal característica de la enzima glucoquinasa es su inusual regulación alostérica, propiedad que le permite adoptar dos conformaciones principales, una cerrada (activa) y otra súper-abierta (inactiva). Se han desarrollado distintas drogas activadoras de glucoquinasa, las cuales se unen al sitio alostérico de la enzima y estabilizan a la proteína en su estado cerrado. En esta revisión se describen las características estructurales y propiedades regulatorias que posee la enzima glucoquinasa, relacionándolas con su rol en el desarrollo de la diabetes MODY 2. También se profundiza en las implicancias moleculares de algunas mutaciones descritas que originan MODY 2, y se abordan los efectos de moléculas activadoras de glucoquinasa.

Diabetes MODY 2 or GCK-MODY is a type of monogenic diabetes produced by a mutation in the glucokinase enzyme, generating a hyperglycemic phenotype. This protein, a monomeric enzyme of the hexokinase family, is responsible for converting glucose into glucose-6-phosphate, the first step of glycolysis. Glucokinase is characterized by its unique kinetic properties: it has a much lower affinity for its substrate than other hexokinases and is not inhibited by its product. It is found mainly in pancreas (ßGK) and liver (LGK), where it acts as a sensor regulating the different metabolic states of these tissues, and ultimately, controlling systemic glycemia. The two forms ßGK and LGK differ at a transcriptional level, because the gene presents two different tissue-specific promoters. The activity of glucokinase in liver and pancreas is regulated by glucose, insulin and other regulatory proteins. The liver isoform can be sequestered to the nucleus by the glucokinase regulatory protein (GKRP). The main characteristic of the enzyme is its unusual allosteric regulation, a property that allows the protein to adopt a closed (active) conformation, and a super-open (inactive) conformation. Different glucokinase activating drugs have been developed, which bind to the allosteric site of the enzyme and stabilize glucokinase in its closed state. This review describes the structural and regulatory properties of the glucokinase enzyme, and its role in the development of MODY 2 diabetes. The molecular implications of some mutations that originate MODY 2 are also described, and the effects of glucokinase activating molecules are addressed.

Minigammacámara portátil para el diagnóstico de muerte encefálica / Portable gamma-camera for the diagnosis of brain death diagnosis

Objetivo: Evaluar la factibilidad del empleo de la minigammacámara portátil Sentinella(R), para el diagnóstico de muerte encefálica (ME). Diseño: Estudio observacional, prospectivo, de factibilidad. Ámbito: Unidad de cuidados intensivos de un hospital de tercer nivel. Pacientes: Desde enero a diciembre de 2017 se registraron de forma consecutiva los pacientes mayores de edad que tras su ingreso en unidad de cuidados intensivos fueron diagnosticados de ME según criterios clínicos. Intervenciones: El procedimiento se realizó a la cabecera del paciente tras la administración intravenosa de tecnecio 99 metaestable-hexametil-propilen-amino-oxima. La ausencia de perfusión a nivel de hemisferios cerebrales y fosa posterior se describía como patrón compatible con ME. Se correlacionó el diagnóstico con doppler transcraneal y/o electroencefalograma. Resultados: Cincuenta y seis pacientes presentaron exploración física compatible con ME. Un 66,1% fueron hombres con una mediana de edad de 60 (RIQ: 51-72) años. La causa más frecuente que precipitó la ME fue el ictus hemorrágico en el 48,2% (27) seguido por traumatismo craneoencefálico grave en el 30,4% (17), ictus isquémico en el 10,7% (6) y encefalopatía anóxica tras parada cardiorrespiratoria en el 7,1% (4). En todos los casos se realizó el diagnóstico clínico de ME y posteriormente una gammagrafía portátil que confirmó dicho diagnóstico en el 100% de los pacientes. Se contrastó el resultado con doppler transcraneal en 46 de ellos que confirmaba la presencia de reverberación diastólica y/o picos sistólicos. En 10 casos se registró el electroencefalograma, con aparición de silencio eléctrico, debido a la ausencia de ventana acústica en el doppler transcraneal. Conclusiones: El uso de minigammacámara portátil puede resultar una herramienta útil y factible para el diagnóstico de ME

Objective: To evaluate the feasibility of using the Sentinella(R) portable gamma-camera for the diagnosis of brain death (BD). Design: A prospective, observational feasibility study was carried out. Setting: Intensive Care Unit of a third level hospital. Patients: Consecutive recording was made of the adults diagnosed with brain death based on clinical criteria following admission to the Intensive Care Unit in the period from January to December 2017. Interventions: The procedure was performed at the patient bedside with the intravenous administration of technetium 99 metastable hexamethylpropylene amine oxime. The absence of perfusion in the cerebral hemispheres and brainstem was described as a pattern consistent with BD. The diagnosis was correlated to the transcranial Doppler and / or electroencephalographic findings. Results: A total of 66.1% of the patients were men with an average age of 60 years [IQR: 51-72]. The most frequent causes resulting in BD were hemorrhagic stroke (48.2%, n=27), followed by traumatic brain injury (30.4%, n=17), ischemic stroke (10.7%, n=6) and post-cardiac arrest anoxic encephalopathy (7.1%, n=4). A clinical diagnosis of BD was made in all cases, and the portable gamma-camera confirmed the diagnosis in 100% of the patients with a pattern characterized by the absence of brain perfusion. In addition, the results were compared with the transcranial Doppler findings in 46 patients, confirming the presence of diastolic reverberation and / or systolic peaks. The electroencephalographic tracing was obtained in 10 cases, with the appearance of electrical silence, due to the absence of an acoustic window in the transcranial Doppler study. Conclusions: A portable gamma-camera could be a useful and feasible tool for the diagnosis of BD

Portable gamma-camera for the diagnosis of brain death diagnosis. / Minigammacámara portátil para el diagnóstico de muerte encefálica.

OBJECTIVE: To evaluate the feasibility of using the Sentinella® portable gamma-camera for the diagnosis of brain death (BD). DESIGN: A prospective, observational feasibility study was carried out. SETTING: Intensive Care Unit of a third level hospital. PATIENTS: Consecutive recording was made of the adults diagnosed with brain death based on clinical criteria following admission to the Intensive Care Unit in the period from January to December 2017. INTERVENTIONS: The procedure was performed at the patient bedside with the intravenous administration of technetium 99 metastable hexamethylpropylene amine oxime. The absence of perfusion in the cerebral hemispheres and brainstem was described as a pattern consistent with BD. The diagnosis was correlated to the transcranial Doppler and / or electroencephalographic findings. RESULTS: A total of 66.1% of the patients were men with an average age of 60 years [IQR: 51-72]. The most frequent causes resulting in BD were hemorrhagic stroke (48.2%, n=27), followed by traumatic brain injury (30.4%, n=17), ischemic stroke (10.7%, n=6) and post-cardiac arrest anoxic encephalopathy (7.1%, n=4). A clinical diagnosis of BD was made in all cases, and the portable gamma-camera confirmed the diagnosis in 100% of the patients with a pattern characterized by the absence of brain perfusion. In addition, the results were compared with the transcranial Doppler findings in 46 patients, confirming the presence of diastolic reverberation and / or systolic peaks. The electroencephalographic tracing was obtained in 10 cases, with the appearance of electrical silence, due to the absence of an acoustic window in the transcranial Doppler study. CONCLUSIONS: A portable gamma-camera could be a useful and feasible tool for the diagnosis of BD.

Inducción de organogénesis in vitro con 6-bencilaminopurina en Cattleya trianae Linden & Rchb.f / Induction of organogenesis in vitro with 6-benzylaminopurine in Cattleya trianae Linden & Rchb.f

RESUMEN La orquídea Cattleya trianae Linden & Rchb.f. es reconocida como flor nacional de Colombia y se encuentra en peligro crítico, al presentar una reducción estimada mayor al 80% en los últimos 100 años, debido a la disminución en la calidad del hábitat y niveles altos de explotación o recolección. La familia Orchidaceae es una de las que mayor número de especies posee en el reino Plantae, con aproximadamente 900 géneros, de los cuales, el 38% es endémico de Colombia, concentrado en la región Andina, con 87,2%. Esta investigación buscó profundizar en el tema de la propagación como mecanismo de conservación, para lo cual, se determinó el efecto de la 6-Bencilaminopurina (6-BAP), sobre el desarrollo in vitro, en Fusagasugá (Cundinamarca), en un diseño de bloques completamente al azar, con 3 repeticiones. Cuerpos protocórmicos provenientes de semillas recolectadas en Pacho (Cundinamarca) fueron sembrados en medio básico Murashige & Skoog, enriquecido con 4 concentraciones de 6-BAP. Los resultados mostraron respuestas diferenciales a la adición de la citoquinina, ya que, con la concentración más alta, se obtuvo el mayor porcentaje de callos, con la de 0,05mg.L-1, el mayor porcentaje de brotes y sin la aplicación del regulador de crecimiento, el mayor porcentaje de raíz.

ABSTRACT The orchid Cattleya trianae Linden & Rchb.f. is recognized as the national flower of Colombia, the species is in a critical danger, presenting an estimated reduction of more than 80% in the last 100 years due to the decrease in habitat quality and high levels of exploitation or harvesting. The Orchidaceae family is one of the largest number of species in the Plant Kingdom, with approximately 900 genera, of which 38% are endemic in Colombia, concentrated in the Andean region with 87.2%. This research sought to deepen in the topic of the propagation as mechanism of protection for their conservation, for which the effect of cytokinin 6-benzylaminopurine (6-BAP) on development was determined in vitro in Fusagasugá (Cundinamarca), in a completely randomized block design with 3 replicates. The protocorm-like bodies from seeds collected in Pacho (Cundinamarca) were sown in a basic medium Murashige and Skoog enriched with 4 concentrations of 6-BAP. The results showed differential responses to the addition of cytokinin, as the highest concentration was obtained the highest percentage of callus, with the 0.05mg. L-1, the highest percentage of shoots and without the application of the growth regulator, the highest root percentage.

Autochthonous cutaneous leishmaniasis in urban domestic animals (Felis catus / Canis lupus familiaris) from central-western Venezuela.

Leishmaniasis is a zoonotic disease caused by intracellular protozoa of the Leishmania genus that are spread and transmitted by sandflies. Natural infection and clinical disease in domestic cats and dogs appear to be rare or perhaps largely under-reported in endemic areas. However, previous reports on infected domestic animals usually implicate the same Leishmania species that affect humans in tropical and subtropical areas of the world suggesting a potential role for zoonotic transmission. In the present study we assessed a representative sample of cats and dogs from endemic urban / suburban areas of Lara state in central western Venezuela. In both dogs and cats, cutaneous disease exhibits a spectrum of manifestations that range from single papules or nodules, which may evolve into ulcerative, plaque-like or scaly lesions. Cytochrome b (cyt b) PCR gene sequence analysis revealed L. mexicana as the causative agent in all cases, including two human cases proceeding from the same study area at the same time the study was carried out. In order to improve our understanding on feline/canine infection with Leishmania mexicana, and address potential zoonotic concerns it is necessary to characterize its enzootic reservoirs and vectors as well as the possible anthropophilic players linking to the peridomestic and domestic cycles.

Diseño de un protocolo de telegenética como asistencia al proceso de diagnóstico y registro de los recién nacidos con anomalías congénitas en las regiones de Los Lagos y de Arica y Parinacota / Design of a telegenetic protocol to assist in the diagnosis and registration process of newborns with congenital anomalies in the Los Lagos and Arica and Parinacota regions

The majority of clinical geneticists in Chile work in the Metropolitan Region (78%). To expand the area of Telemedicine and support the management of the Ministry of Health, we present this Telegenetics development project that includes innovation of assistance and educational nature directed to regions. The implementation of the National Registry of Congenital Anomalies in Chile (RENACH) in the public and private systems, in December 2015, and the obligation to record and describe the anomalies in all newborns, constitutes a favorable scenario that would benefit from the support of clinical geneticists. This proposal brings together a team of 18 specialists and 6 fellows, professionals from different Universities and / or Hospitals of Health Services, in a collaborative project in the area of clinical genetics, which, supported by the HCUCH + CIMT Telemedicine project, will contribute to two regions of Chile better tools for the diagnosis and comprehensive management of newborn patients with congenital anomalies. It can serve as a pilot for a new way to support the registration of malformations throughout Chile and teach clinical genetics concepts. The expected benefits are to improve the quality of care and health management in patients with little-known diseases. (AU)

Fiebre Mediterránea familiar: un diagnóstico a tener en mente / Familial Mediterranean fever: a diagnosis to keep in mind

Familial Mediterranean Fever is a hereditary inflammatory disease of predominantly autosomal recessive inheritance, produced by mutations in the MEFV gene that is found on the short arm of chromosome 16, characterized by recurrent episodes of fever accompanied by peritonitis, pleuritis, arthritis or erysipelaslike erythema. An episode lasts from one to three days, and its frequency is very variable. This disease is more frequent among Mediterranean populations, Jews from North Africa (not Ashkenazi), Armenians, Turks and Arabs. However, in recent years more cases have been reported in countries not related to this area. There are no formal studies of epidemiology in Chile. We present the case of one patient of Egyptian/ Jewish ancestry, and the case of a family of German/Spanish ancestry, all Chileans with semiology and characteristic evolution of familial Mediterranean fever and heterozygous positive molecular study. The absence of diagnosis in non-Mediterranean countries may be due to the lack of awareness of this disease. In Chile there has been a rise in cases given by migrants and their offspring, so it is very important to keep in mind as possible diagnosis in case of pain and fever of unknown origin. On the other hand, the familial Mediterranean fever is mainly of autosomal recessive inheritance, but dominant variants have been described. Both cases described in this work present the variant in which the disease manifests itself in its heterozygous form, generating an autosomal dominant inheritance, which would increase the number of affected individuals in the population.

La fiebre mediterránea familiar es un trastorno auto inflamatorio hereditario de herencia predominantemente autosómica recesiva, producida por mutaciones en el gen MEFV que se encuentra en el brazo corto del cromosoma 16, y que se caracteriza por episodios recurrentes de fiebre acompañada de peritonitis, pleuritis, artritis o eritema tipo erisipela. Un episodio dura entre uno y tres días, y su frecuencia es muy variable. Esta enfermedad es más frecuente entre las poblaciones mediterráneas, judíos del norte de África (no ashkenazíes), armenios, turcos y árabes. Sin embargo, en los últimos años se han reportado más casos en países no relacionados con esta área. No hay estudios epidemiológicos formales en Chile. Presentamos el caso de una paciente de ascendencia egipcia/judía, y el caso de una familia de ascendencia alemana/española, todos chilenos con semiología y evolución característica de fiebre mediterránea familiar y estudio molecular positivo heterocigoto. La falta de diagnóstico en países no mediterráneos puede deberse a la falta de conocimiento de esta enfermedad. En Chile han aumentado los casos dado el aumento de migrantes y sus descendientes, por lo que es importante tener este diagnóstico como posibilidad en caso de dolor y fiebre de origen desconocido. Por otro lado, la fiebre mediterránea familiar es principalmente de herencia autosómica recesiva, pero se han descrito variantes dominantes. Los dos casos descritos en este trabajo presentan la variante en la que la enfermedad se manifiesta en su forma heterocigota, generando una herencia autosómica dominante, lo que aumentaría el número de individuos afectados en la población.

Oxygen uptake rate in alginate producer (algU+) and nonproducer (algU-) strains of Azotobacter vinelandii under nitrogen-fixation conditions.

AIMS: The sigma E (AlgU) in Azotobacter vinelandii has been shown to control the expression of cydR gene, a repressor of genes of the alternative respiratory chain, and alginate has been considered a barrier for oxygen diffusion. Therefore, the aim of the present study was to compare the respiratory activity of an alginate nonproducing strain, lacking the sigma factor E (algU-), and polymer-producing strains (algU+) of A. vinelandii under diazotrophic conditions at different aeration conditions. METHODS AND RESULTS: Our results reveal that under diazotrophic and high aeration conditions, A. vinelandii strain OP (algU-) had a specific oxygen consumption rate higher (30 and 54%) than those observed in the OP algU+-complemented strain, named OPAlgU+, and the ATCC 9046 respectively. However, the specific growth rate and biomass yields (based on oxygen and sucrose) were lower for OP cultivations as compared to the algU+ strains. These differences were partially explained by an increase in 1·5-fold of cydA relative expression in the OP strain, as compared to that obtained in the isogenic OPAlgU+ strain. CONCLUSIONS: Overall, our results confirm the important role of algU gene on the regulation of respiratory metabolism under diazotrophic growth when A. vinelandii is exposed to high aeration. SIGNIFICANCE AND IMPACT OF THE STUDY: This study highlights the role of AlgU to control respiration of A. vinelandii when exposed to diazotrophy.

Aplicación de la dimensión identidad de la entrevista STIPO para diagnosticar difusión de identidad en pacientes con diagnóstico previo de trastornos severos de la personalidad. Estudio clínico cuantitativo / Application of identity dimension in the STIPO interview: Diagnosis of identity difusion in patients with pevious diagnosis of severe personality disorder. A quantitative clinical study

Resumen Estudio que aplicó la escala STIPO (Structured Interview of Personality Organization - Entrevista Estructurada de Organización de Personalidad) en su Dimensión Identidad a 61 pacientes con y sin diagnóstico previo de Trastorno de Personalidad según DSM-IV, para evaluar el estado de la Identidad del Yo. Esta investigación se basó en el Modelo de Otto Kernberg y colaboradores, quienes consideran que la Identidad del Yo es el criterio central a la hora de evaluar la Organización de la Personalidad. Este trabajo expondrá los principales fundamentos teóricos y clínicos en referencia a la Identidad del Yo de este autor. En esta muestra, encontramos un alto grado de concordancia entre el diagnóstico de Trastorno de Personalidad según DSM y la presencia de Difusión de Identidad a través de la STIPO Dimensión Identidad y, por otra parte, Identidad Integrada en pacientes que no presentaron Trastorno de Personalidad según DSM.

Scale study that applied STIPO (Structured Interview of Personality Organization - Structured Interview of Personality Organization) in Identity Dimension, 61 patients with and without a diagnosis of personality disorder according to DSM-IV, with the assess Identity versus identity diffusion Integrated. This research was based on the model of Otto Kernberg, where it is considered that the Identity is the central criterion in assessing the Personality Organization. This paper will expose the main theoretical and clinical foundations in reference to the Identity of the Self of this author. According to the results obtained in the sample, there is a high degree of concordance between the diagnosis of Personality Disorder according to DSM-IV diagnosis of Identity Diffusion through STIPO Identity Dimension.

Eficacia del videolaringoscopio GlideScope® en un caso de vía aérea difícil imprevista por hipertrofia de la amígdala lingual / Effectiveness of the GlideScope® video laryngoscope in a case of unexpected difficult airway due to lingual tonsil hypertrophy

La hipertrofia de amígdala lingual puede ocasionar diversos grados de obstrucción de la vía aérea y se la considera un factor de riesgo de dificultad de ventilación con mascarilla facial y de intubación traqueal. Presentamos un caso de vía aérea difícil imprevista en una paciente con hipertrofia de amígdala lingual desconocida, la cual se solucionó con la utilización del videolaringoscopio GlideScope® (AU)

Lingual tonsil hypertrophy can cause varying degrees of airway obstruction and is considered a risk factor for difficult mask ventilation and tracheal intubation. We report a case of unexpected difficult airway in a patient with unknown lingual tonsil hypertrophy that was solved with the use of the GlideScope® video laryngoscope (AU)

[Effectiveness of the GlideScope video laryngoscope in a case of unexpected difficult airway due to lingual tonsil hypertrophy]. / Eficacia del videolaringoscopio GlideScope en un caso de vía aérea difícil imprevista por hipertrofia de la amígdala lingual.

Lingual tonsil hypertrophy can cause varying degrees of airway obstruction and is considered a risk factor for difficult mask ventilation and tracheal intubation. We report a case of unexpected difficult airway in a patient with unknown lingual tonsil hypertrophy that was solved with the use of the GlideScope video laryngoscope.