Targeted phasing of 2-200 kilobase DNA fragments with a short-read sequencer and a single-tube linked-read library method.

In the human genome, heterozygous sites refer to genomic positions with a different allele or nucleotide variant on the maternal and paternal chromosomes. Resolving these allelic differences by chromosomal copy, also known as phasing, is achievable on a short-read sequencer when using a library preparation method that captures long-range genomic information. TELL-Seq is a library preparation that captures long-range genomic information with the aid of molecular identifiers (barcodes). The same barcode is used to tag the reads derived from the same long DNA fragment within a range of up to 200 kilobases (kb), generating linked-reads. This strategy can be used to phase an entire genome. Here, we introduce a TELL-Seq protocol developed for targeted applications, enabling the phasing of enriched loci of varying sizes, purity levels, and heterozygosity. To validate this protocol, we phased 2-200 kb loci enriched with different methods: CRISPR/Cas9-mediated excision coupled with pulse-field electrophoresis for the longest fragments, CRISPR/Cas9-mediated protection from exonuclease digestion for mid-size fragments, and long PCR for the shortest fragments. All selected loci have known clinical relevance: BRCA1, BRCA2, MLH1, MSH2, MSH6, APC, PMS2, SCN5A-SCN10A, and PKI3CA. Collectively, the analyses show that TELL-Seq can accurately phase 2-200 kb targets using a short-read sequencer.

Targeted Phasing of 2-200 Kilobase DNA Fragments with a Short-Read Sequencer and a Single-Tube Linked-Read Library Method.

In the human genome, heterozygous sites are genomic positions with different alleles inherited from each parent. On average, there is a heterozygous site every 1-2 kilobases (kb). Resolving whether two alleles in neighboring heterozygous positions are physically linked-that is, phased-is possible with a short-read sequencer if the sequencing library captures long-range information. TELL-Seq is a library preparation method based on millions of barcoded micro-sized beads that enables instrument-free phasing of a whole human genome in a single PCR tube. TELL-Seq incorporates a unique molecular identifier (barcode) to the short reads generated from the same high-molecular-weight (HMW) DNA fragment (known as 'linked-reads'). However, genome-scale TELL-Seq is not cost-effective for applications focusing on a single locus or a few loci. Here, we present an optimized TELL-Seq protocol that enables the cost-effective phasing of enriched loci (targets) of varying sizes, purity levels, and heterozygosity. Targeted TELL-Seq maximizes linked-read efficiency and library yield while minimizing input requirements, fragment collisions on microbeads, and sequencing burden. To validate the targeted protocol, we phased seven 180-200 kb loci enriched by CRISPR/Cas9-mediated excision coupled with pulse-field electrophoresis, four 20 kb loci enriched by CRISPR/Cas9-mediated protection from exonuclease digestion, and six 2-13 kb loci amplified by PCR. The selected targets have clinical and research relevance (BRCA1, BRCA2, MLH1, MSH2, MSH6, APC, PMS2, SCN5A-SCN10A, and PKI3CA). These analyses reveal that targeted TELL-Seq provides a reliable way of phasing allelic variants within targets (2-200 kb in length) with the low cost and high accuracy of short-read sequencing.

Small area estimation of expenditure means and ratios under a unit-level bivariate linear mixed model.

Under a unit-level bivariate linear mixed model, this paper introduces small area predictors of expenditure means and ratios, and derives approximations and estimators of the corresponding mean squared errors. For the considered model, the REML estimation method is implemented. Several simulation experiments, designed to analyze the behavior of the introduced fitting algorithm, predictors and mean squared error estimators, are carried out. An application to real data from the Spanish household budget survey illustrates the behavior of the proposed statistical methodology. The target is the estimation of means of food and non-food household annual expenditures and of ratios of food household expenditures by Spanish provinces.

¿Polipnea o taquipnea? Esa es la cuestión / Compliance with the recommendations for physical activity set by the WHO by public bicycle users in a Spanish municipality

RESUMEN Introducción: Polipnea y taquipnea tienen significados diferentes en diversos textos y los estudiantes de Medicina se desorientan al estudiar la Semiología de la disnea. Objetivo: Elucidar la disparidad semántica entre polipnea y taquipnea. Material y Métodos: Se realizó una revisión bibliográfica utilizando los descriptores en ciencias de la salud taquipnea y polipnea. Se realizó una búsqueda en quince textos de Semiología Médica y en otros libros y revistas, impresos y electrónicos, entre ellos, la Revista Española de Cardiología (enero 1997 a diciembre 2020) en Archivos de Bronconeumología(diciembre 1964 a diciembre 2020); y se hizo el análisis etimológico de las palabras estudiadas, en Medigraphic (2012-21). Resultados: Seis de quince textos de Semiología consideran sinónimos polipnea y taquipnea; cuatro, solo emplean polipnea; y dos, taquipnea. Tres distinguen taquipnea como aumento de la frecuencia respiratoria; de polipnea, respiración superficial y rápida; dos definen taquipnea como aumento de la frecuencia respiratoria simple o con disminución de la amplitud (respiración superficial) y polipnea o hiperpnea, como aumento de la profundidad respiratoria con incremento de la frecuencia. En revistas científicas, taquipnea apareció en 192 artículos como respiración rápida y superficial; con igual significado se encontró polipnea, en 27. Según origen, taquipnea significa aceleración del ritmo respiratorio; polipnea, respiración muy frecuente y superficial, sin relación con polýpnóoos: "que sopla con fuerza" e hiperpnea significa incremento de la velocidad y amplitud de los movimientos respiratorios. Conclusiones: Polipnea y taquipnea deben considerarse equivalentes de respiración rápida y superficial; taquipnea simple, si la amplitud respiratoria es normal; e hiperpnea denomina la respiración muy frecuente y profunda.

ABSTRACT Introduction: Polypnea and tachypnea have different meanings in several texts, and medical studentsmay get confusedwith just the study of the semiology of dyspnea. Objective: Toelucidatethe semantic gap between polypnea and tachypnea. Material and Methods: A bibliographic review was conducted usinghealth science descriptors such as tachypnea and polypnea; a search was performed in 15 texts of Medical Semiology and other printed or electronic books and journals, among them, theRevista Española de Cardiología(fromJanuary 1997 to December 2020) andArchivos de Bronconeumología (from December 1964 toDecember 2020); in addition, the etymological analysis of these words was carried out in Medigraphic (2012-2021). Results: Six out of fifteen texts on semiology consider that the termspolypnea and tachypnea are synonymous; fourtexts only use polypnea; and two use the term tachypnea. Three texts distinguish tachypnea as increased respiratory rate, andpolypnea as arapid, shallow breathing; two texts define tachypnea as a simple increase in the respiratory rateor a decrease in the respiratory amplitude (shallow breathing); and polypnea or hyperpnea as the increasein depth and rate of breathing.In scientific journals, the term tachypnea was usedin 192 papersto refer to rapid, shallow breathing; andpolypnea had the same meaning in 27 articles. According to its origin, tachypnea means rapid respiratory rate; Polypnea is presented as very frequent and shallow breathing, unrelated to polýpnoos: "that blows forcefully"; while hyperpneameans an increase in the speed and amplitude of respiratory movements. Conclusions: Polypnea and tachypnea should be considered as equivalents of rapid andshallow breathing; simple tachypneaif the respiratory amplitude is normal; and hyperpnea designs a very frequent and deep breathing.

Distribution and Magnitude of Regional Volumetric Lung Strain and Its Modification by PEEP in Healthy Anesthetized and Mechanically Ventilated Dogs.

The present study describes the magnitude and spatial distribution of lung strain in healthy anesthetized, mechanically ventilated dogs with and without positive end-expiratory pressure (PEEP). Total lung strain (LSTOTAL) has a dynamic (LSDYNAMIC) and a static (LSSTATIC) component. Due to lung heterogeneity, global lung strain may not accurately represent regional total tissue lung strain (TSTOTAL), which may also be described by a regional dynamic (TSDYNAMIC) and static (TSSTATIC) component. Six healthy anesthetized beagles (12.4 ± 1.4 kg body weight) were placed in dorsal recumbency and ventilated with a tidal volume of 15 ml/kg, respiratory rate of 15 bpm, and zero end-expiratory pressure (ZEEP). Respiratory system mechanics and full thoracic end-expiratory and end-inspiratory CT scan images were obtained at ZEEP. Thereafter, a PEEP of 5 cmH2O was set and respiratory system mechanics measurements and end-expiratory and end-inspiratory images were repeated. Computed lung volumes from CT scans were used to evaluate the global LSTOTAL, LSDYNAMIC, and LSSTATIC during PEEP. During ZEEP, LSSTATIC was assumed zero; therefore, LSTOTAL was the same as LSDYNAMIC. Image segmentation was applied to CT images to obtain maps of regional TSTOTAL, TSDYNAMIC, and TSSTATIC during PEEP, and TSDYNAMIC during ZEEP. Compliance increased (p = 0.013) and driving pressure decreased (p = 0.043) during PEEP. PEEP increased the end-expiratory lung volume (p < 0.001) and significantly reduced global LSDYNAMIC (33.4 ± 6.4% during ZEEP, 24.0 ± 4.6% during PEEP, p = 0.032). LSSTATIC by PEEP was larger than the reduction in LSDYNAMIC; therefore, LSTOTAL at PEEP was larger than LSDYNAMIC at ZEEP (p = 0.005). There was marked topographic heterogeneity of regional strains. PEEP induced a significant reduction in TSDYNAMIC in all lung regions (p < 0.05). Similar to global findings, PEEP-induced TSSTATIC was larger than the reduction in TSDYNAMIC; therefore, PEEP-induced TSTOTAL was larger than TSDYNAMIC at ZEEP. In conclusion, PEEP reduced both global and regional estimates of dynamic strain, but induced a large static strain. Given that lung injury has been mostly associated with tidal deformation, limiting dynamic strain may be an important clinical target in healthy and diseased lungs, but this requires further study.

Design and Test of a High-Performance Wireless Sensor Network for Irradiance Monitoring.

Cloud-induced photovoltaic variability can affect grid stability and power quality, especially in electricity systems with high penetration levels. The availability of irradiance field forecasts in the scale of seconds and meters is fundamental for an adequate control of photovoltaic systems in order to minimize their impact on distribution networks. Irradiance sensor networks have proved to be efficient tools for supporting these forecasts, but the costs of monitoring systems with the required specifications are economically justified only for large plants and research purposes. This study deals with the design and test of a wireless irradiance sensor network as an adaptable operational solution for photovoltaic systems capable of meeting the measurement specifications necessary for capturing the clouds passage. The network was based on WiFi, comprised 16 pyranometers, and proved to be stable at sampling periods up to 25 ms, providing detailed spatial representations of the irradiance field and its evolution. As a result, the developed network was capable of achieving comparable specifications to research wired irradiance monitoring network with the advantages in costs and flexibility of the wireless technology, thus constituting a valuable tool for supporting nowcasting systems for photovoltaic management and control.

Evaluation of Lung Aeration and Respiratory System Mechanics in Obese Dogs Ventilated With Tidal Volumes Based on Ideal vs. Current Body Weight.

We describe the respiratory mechanics and lung aeration in anesthetized obese dogs ventilated with tidal volumes (VT) based on ideal (VTi) vs. current (VTc) body weight. Six dogs with body condition scores ≥ 8/9 were included. End-expiratory respiratory mechanics and end-expiratory CT-scan were obtained at baseline for each dog. Thereafter, dogs were ventilated with VT 15 ml kg-1 based on VTi and VTc, applied randomly. Respiratory mechanics and CT-scan were repeated at end-inspiration during VTi and VTc. Data analyzed with linear mixed models and reported as mean ± SD or median [range]. Statistical significance p < 0.05. The elastance of the lung, chest wall and respiratory system indexed by ideal body weight (IBW) were positively correlated with body fat percentage, whereas the functional residual capacity indexed by IBW was negatively correlated with body fat percentage. At end-expiration, aeration (%) was: hyperaeration 0.03 [0.00-3.35], normoaeration 69.7 [44.6-82.2], hypoaeration 29.3 [13.6-49.4] and nonaeration (1.06% [0.37-6.02]). Next to the diaphragm, normoaeration dropped to 12 ± 11% and hypoaeration increased to 90 ± 8%. No differences in aeration between groups were found at end-inspiration. Airway driving pressure (cm H2O) was higher (p = 0.002) during VTc (9.8 ± 0.7) compared with VTi (7.6 ± 0.4). Lung strain was higher (p = 0.014) during VTc (55 ± 21%) than VTi (38 ± 10%). The stress index was higher (p = 0.012) during VTc (SI = 1.07 [0.14]) compared with VTi (SI = 0.93 [0.18]). This study indicates that body fat percentage influences the magnitude of lung, chest wall, and total respiratory system elastance and resistance, as well as functional residual capacity. Further, these results indicate that obese dogs have extensive areas of hypoaerated lungs, especially in caudodorsal regions. Finally, lung strain and airway driving pressure, surrogates of lung deformation, are higher during VTc than during VTi, suggesting that in obese anesthetized dogs, ventilation protocols based on IBW may be advantageous.

Analysis of Brugada syndrome loci reveals that fine-mapping clustered GWAS hits enhances the annotation of disease-relevant variants.

Genome-wide association studies (GWASs) are instrumental in identifying loci harboring common single-nucleotide variants (SNVs) that affect human traits and diseases. GWAS hits emerge in clusters, but the focus is often on the most significant hit in each trait- or disease-associated locus. The remaining hits represent SNVs in linkage disequilibrium (LD) and are considered redundant and thus frequently marginally reported or exploited. Here, we interrogate the value of integrating the full set of GWAS hits in a locus repeatedly associated with cardiac conduction traits and arrhythmia, SCN5A-SCN10A. Our analysis reveals 5 common 7-SNV haplotypes (Hap1-5) with 2 combinations associated with life-threatening arrhythmia-Brugada syndrome (the risk Hap1/1 and protective Hap2/3 genotypes). Hap1 and Hap2 share 3 SNVs; thus, this analysis suggests that assuming redundancy among clustered GWAS hits can lead to confounding disease-risk associations and supports the need to deconstruct GWAS data in the context of haplotype composition.

Role of Non-Coding Variants in Brugada Syndrome.

Brugada syndrome (BrS) is an inherited electrical heart disease associated with a high risk of sudden cardiac death (SCD). The genetic characterization of BrS has always been challenging. Although several cardiac ion channel genes have been associated with BrS, SCN5A is the only gene that presents definitive evidence for causality to be used for clinical diagnosis of BrS. However, more than 65% of diagnosed cases cannot be explained by variants in SCN5A or other genes. Therefore, in an important number of BrS cases, the underlying mechanisms are still elusive. Common variants, mostly located in non-coding regions, have emerged as potential modulators of the disease by affecting different regulatory mechanisms, including transcription factors (TFs), three-dimensional organization of the genome, or non-coding RNAs (ncRNAs). These common variants have been hypothesized to modulate the interindividual susceptibility of the disease, which could explain incomplete penetrance of BrS observed within families. Altogether, the study of both common and rare variants in parallel is becoming increasingly important to better understand the genetic basis underlying BrS. In this review, we aim to describe the challenges of studying non-coding variants associated with disease, re-examine the studies that have linked non-coding variants with BrS, and provide further evidence for the relevance of regulatory elements in understanding this cardiac disorder.

Análisis de la laparoscopía diagnóstica y estudios de imagen en el manejo del dolor en fosa ilíaca derecha de etiología incierta / Analysis of diagnostic laparoscopy and imaging studies for the handling of pain in undetermined etiology right iliac fossa / Análise da laparoscopia diagnóstica e estudos de imagem no manejo da dor na fossa ilíaca direita de etiologia incerta

Introducción: el dolor en la fosa ilíaca derecha (FID) es un motivo de consulta habitual en los servicios de urgencias. El principal desafío es diferenciar si es un cuadro quirúrgico o no. Objetivo: conocer qué rol ocupa la laparoscopía diagnóstica (LD), la ecografía de abdomen y la tomografía computada (TC) en el algoritmo de estudio de los pacientes con dolor en FID con diagnóstico incierto en Uruguay. Método: estudio observacional, descriptivo, prospectivo, multicéntrico, sobre pacientes que consultaron por dolor en FID desde el 1º de junio al 31 de agosto de 2017 en centros asistenciales de Uruguay. Se recolectaron los siguientes datos en una planilla electrónica: sexo, edad, sintomatología, hallazgos físicos, exámenes solicitados, conducta tomada, hallazgos intraoperatorios, complicaciones. Resultados: se completaron 159 planillas. Luego de una valoración primaria se planteó duda diagnóstica en 69 (43,4%) pacientes. La TC se solicitó en 29 (42%) pacientes. Se realizó TC al 78% de los mayores de 50 años versus 18% entre los de 15 y 29 años. Del total, 13 (44,8%) se informaron como normales, confirmando en el intraoperatorio cuatro (30,7%) apendicitis agudas. Se realizaron 29 LD en los casos con duda diagnóstica, dos tercios fueron en pacientes de 15 a 29 años. En 22 (76%) casos se arribó a un diagnóstico. No hubo complicaciones. Conclusiones: la LD permitió realizar diagnóstico y tratamiento en la mayoría de los casos. La sensibilidad de la TC fue baja en comparación con datos internacionales. El algoritmo diagnóstico debe ser individualizado, basado en protocolos adaptados a los recursos de cada institución. (AU)

Introduction: right iliac fossa (RIF) pain is a frequent reason for consultation at the Emergency Units. The main challenge lies in defining whether it is a surgical condition or not. Objective: to learn about the role of diagnostic laparoscopy, abdominal ultrasound and CT scan in the studies algorithm of patients with RIF pain of unknown etiology in Uruguay. Method: observational, descriptive, prospective, multi-center study of patients who consulted for RIF from June 1st to August 31, 2017 in Health Institutions in Uruguay. The following data were gathered in an excel sheet: sex, age, symptoms, physical findings, tests requested, conduct adopted, intraoperative findings and complications. Results: 159 sheets were completed. Upon a primary assessment a diagnostic doubt was arose in 69 patients (43.4%). A CT scan was requested to 29 patients, and a CT was performed to 78% of patients older than 50 years old vs 18% of those between 15 and 29 years. Conclusions: the diagnostic laparoscopy allowed for diagnosis in most cases. Sensitivity of the CT scan was low when compared to international data. The diagnostic algorithm needs to me individualized, based on protocols adapted to the resources of every institution.

Introdução: a dor na fossa ilíaca direita (FID) é um motivo habitual de consulta habitual nos Serviços de Urgências. O principal desafio é diferenciar entre um quadro cirúrgico e um não cirúrgico. Objetivo: conhecer o papel da laparoscopia diagnóstica (LD), do ultrassom de abdômen e da tomografia computada (TC) no algoritmo de estudo dos pacientes com dor na FID com diagnóstico incerto no Uruguai. Método: estudo observacional, descritivo, prospectivo, multicêntrico sobre pacientes que consultaram por dor na FID no período 1º de junho - 31 de agosto del 2017 em Centros Assistenciais no Uruguai. Em una planilha electrónica foram incluídos os seguintes dados: sexo, idade, sintomatologia, achados físicos, exames solicitados, conduta tomada, achados intra-operatórios e complicações. Resultados: foram preenchidas 159 planilhas. Depois de uma avaliação primaria foram definidas dúvidas diagnósticas em 69 (43,4%) pacientes. Foram solicitadas TC a 29 (42%) pacientes; 78% dos pacientes com mais de 50 anos vs 18% dos pacientes com idades entre 15 e 29 anos. 13 (44,8% do total) tiveram laudo "normal", confirmando apendicite aguda em 4 (30,7%) durante cirurgia. Foram realizadas 29 LD nos casos com dúvida diagnóstica sem dos terços em pacientes de 15 a 29 anos. Em 22 (76%) casos foi possível definir um diagnóstico. Não se registraram complicações. Conclusões: a LD permitiu realizar diagnóstico e tratamento na maioria dos casos. A sensibilidade da TC foi baixa em comparação com dados internacionais. O algoritmo diagnóstico deve ser individualizado, baseado em protocolos adaptados aos recursos de cada instituição.

Sleep problems in adults with autism spectrum disorder and intellectual disability.

Sleep problems (SP) are recognized as a common comorbid condition in autism spectrum disorder (ASD) and can influence core autism symptoms and mental and physical health. SPs can be lifelong and have been reported that adults on the autistic spectrum with and without intellectual disability (ID) present SPs (longer sleep latency, frequent night awakenings, and circadian rhythm sleep-wake disorders). A prospective, objective sleep study was conducted in 41 adults with ASD (33 ± 6 years old) and ID and 51 typically developing adults (33 ± 5 years old) using ambulatory circadian monitoring (ACM) recording wrist temperature, motor activity, body position, sleep, and light intensity. The findings indicated that individuals with ASD presented sleep difficulties including low sleep efficiency, prolonged sleep latency and increased number and length of night awakenings, together with daily sedentary behavior, and increased nocturnal activity. Furthermore, indications of an advanced sleep-wake phase disorder were found in these autistic adults. Examining sleep and markers of the circadian system showed significant differences between adults with ASD and ID and an age-matched, healthy adult population. The sleep disturbances described for this sample of adults with ASD and ID are similar to those of already described for adults with ASD without ID; their relationship with intellectual ability should be further studied. Improving knowledge of sleep patterns in ASD adults with ID might help to designed targeted interventions to improve their functioning and reduce family stress. Autism Research 2019, 12: 66-79. © 2018 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: SPs are very frequent in autism from childhood to adulthood. We recorded sleep with a watch-like device in adults with autism and ID and compared sleep patterns with nonautistic volunteers. Results showed poorer sleep conditions in adults with autism (increased sleep latency and number/length of night awakenings) that resulted in decreased sleep efficiency. Increasing knowledge of the SPs in adults on the autism spectrum will allow to improve their and their families' quality of life.

Colestasis intrahepática del embarazo. Expresividad clínica, bioquímica y resultados perinatales / Intrahepatic cholestasis of pregnancy. Clinical and biochemical expressions, and perinatal outcome

Introducción: la colestasis intrahepática del embarazo es una afección de espectro clínico-analítico variable de alto riesgo para el feto. Objetivo: identificar la expresividad clínica, bioquímica y los resultados perinatales en pacientes con colestasis intrahepática del embarazo. Método: estudio observacional descriptivo prospectivo, de marzo de 2012 a febrero de 2014 en el Hospital Vladimir Ilich Lenin, de Holguín, Cuba. De 68 pacientes ingresadas con sospecha de afección hepatobiliar, 43 con colestasis del embarazo clasificaron bajo criterios de selección muestral. Los datos procedieron del interrogatorio, examen físico e historias clínicas. Se emplearon los estadígrafos U de Mann-Whitney y Test de Fisher. La clínica se especificó como de mayor o menor severidad y el desenlace perinatal, favorable o desfavorable. Resultados: 58,1% fueron recién nacidos pretérmino; 25,6% con bajo peso al nacer y 23,3% con bajo Apgar. La alaninoaminotransferasa y aspartatoaminotransferasa fueron los analitos con mayor aumento promedio, con 3,2 y 2,2 veces por encima del límite superior normal, respectivamente. Las cifras de alaninoaminotransferasa, aspartatoaminotransferasa, la bilirrubina y el tiempo de protrombina fueron significativamente mayores en el grupo con mayor severidad del cuadro clínico para un 37,2% de la muestra de bilirrubina y triglicéridos, en el grupo con desenlace perinatal desfavorable en un 74,4%. Se produjo una asociación significativa (p = 0,003) entre la severidad de cuadro clínico y el desenlace perinatal. Conclusiones: los resultados de este estudio abren las puertas a futuras investigaciones de diseño más riguroso, con vistas a identificar predictores clínicos y bioquímicos, de peor pronóstico fetal en nuestro medio.

Introduction: intrahepatic cholestasis of pregnancy, a condition with variable clinical and analytic expressions, involves risk for the fetus. Objective: to identify the clinical, biochemical expression and perinatal outcome in patients with cholestasis intrahepatic of pregnancy. Method: descriptive observational prospective investigation from March 2012 to February 2014, at Vladimir Ilich Lenin Hospital, in Holguín. A group of 43 patients with intrahepatic colestasis of pregnancy, out of 68 admitted patients with hepatobiliary conditions with selection criteria, were included. Interrogatory, physical examination and clinical records were data sources. Mann-Whitney U and Fisher statistical tests were applied. Clinical manifestations were classified into milled or severe, and perinatal outcome in favorable or unfavorable. Results: the 58.1% were preterm newborns; 25.6% had low birth weight and 23.3% had a low Apgar score. Alanine aminotransferase and aspartate aminotransferase were the most increased laboratory tests with 3.2 y 2.2 times over the upper limit of normal, each. Alanine aminotransferase, aspartate aminotransferase, bilirubin and prothrombin time values were significantly higher in the most symptomatic group with 37.2%. Bilirubin and triglycerides were significantly higher in the group with unfavorable perinatal outcome with 74.4%. There was a significant association (p = 0.003) between the severity of clinical manifestations and perinatal outcome. Conclusions: present study results favor future research development and rigorous clinical and biochemical predictors designs for worst fetal prognosis, in our clinical settings.

An On-Line Low-Cost Irradiance Monitoring Network with Sub-Second Sampling Adapted to Small-Scale PV Systems.

Very short-term solar forecasts are gaining interest for their application on real-time control of photovoltaic systems. These forecasts are intimately related to the cloud motion that produce variations of the irradiance field on scales of seconds and meters, thus particularly impacting in small photovoltaic systems. Very short-term forecast models must be supported by updated information of the local irradiance field, and solar sensor networks are positioning as the more direct way to obtain these data. The development of solar sensor networks adapted to small-scale systems as microgrids is subject to specific requirements: high updating frequency, high density of measurement points and low investment. This paper proposes a wireless sensor network able to provide snapshots of the irradiance field with an updating frequency of 2 Hz. The network comprised 16 motes regularly distributed over an area of 15 m × 15 m (4 motes × 4 motes, minimum intersensor distance of 5 m). The irradiance values were estimated from illuminance measurements acquired by lux-meters in the network motes. The estimated irradiances were validated with measurements of a secondary standard pyranometer obtaining a mean absolute error of 24.4 W/m 2 and a standard deviation of 36.1 W/m 2 . The network was able to capture the cloud motion and the main features of the irradiance field even with the reduced dimensions of the monitoring area. These results and the low-cost of the measurement devices indicate that this concept of solar sensor networks would be appropriate not only for photovoltaic plants in the range of MW, but also for smaller systems such as the ones installed in microgrids.

Síndrome. Empleo inadecuado del término en la Discusión Diagnóstica. Semejanzas y divergencias en el criterio de expertos / Inappropriate use of the term Syndrome in the Diagnostic Discussion. Similarities and divergences in the criterion of experts

Introducción: hay casos de uso inadecuado del término síndrome en la discusión diagnóstica, en el Hospital Universitario V.I. Lenin de Holguín, lo que puede deberse a diversos factores. Objetivo: identificar, según el criterio de expertos, si existen en otras provincias de Cuba casos de uso inadecuado del término síndrome en la discusión diagnóstica, su repercusión negativa en el diagnóstico médico, principales manifestaciones del uso inadecuado, probables causas, necesidad de consenso y de reemplazo conceptual. Métodos: estudio observacional descriptivo con triangulación metodológica. Muestra intencionada de 15 expertos de diferentes provincias, profesores auxiliar o titular, máster, doctor en ciencias o ambos y especialistas de primer o segundo grado en medicina interna, quienes contestaron, por vía electrónica, una encuesta con diversos ítems y preguntas, tipo Escala Likert. La encuesta fue validada estadísticamente, los datos fueron procesados con uso de la mediana y de cuartiles mediante: test de Anova, coeficiente de correlación de Kendall y análisis clúster. Resultados: la mayoría de expertos concordaron en que existen casos de uso inadecuado del término síndrome en las discusiones diagnósticas, su negativa repercusión en el diagnóstico médico, posibles causas, necesidad de consenso con algunas divergencias, entre tres grupos de expertos, respecto a formas de manifestarse, otros factores influyentes y en especial sobre la ampliación del concepto síndrome, mediante la inclusión de signos propios de los exámenes complementarios, y su posible consecuencia en el algoritmo del método clínico. Conclusiones: aunque la mayoría de expertos concordaron sobre la existencia de uso inadecuado del término síndrome y otros aspectos relacionados, la existencia de divergencias, en especial sobre el reemplazo conceptual del término y su repercusión en el proceso diagnóstico hace plantear la existencia de una escuela heterodoxa (minoría), una escuela ortodoxa o tradicional (mayoría) y una escuela ecléctica, intermedia en número de expertos.

Introduction: there have been cases of misuse of the term syndrome in diagnostic discussion at the University Hospital of Holguin V.I. Lenin, which may be due to several factors. Objective: to identify, according to expert criteria, if there are cases of inappropriate use of the term syndrome in the diagnostic discussion in other provinces of Cuba, its negative repercussion in the medical diagnosis, main manifestations of the inadequate use, probable causes, need of consensus and of conceptual replacement. Method: descriptive observational study with methodological triangulation. Intentional sample of 15 experts from different provinces, assistant or master professors, master, doctor of science or both and specialists of first or second degree on internal medicine, who answered, electronically, a survey with various items and questions, Likert Scale. The survey was statistically validated; the data were processed using the median and quartiles using: anova test, Kendall correlation coefficient and cluster analysis. Results: the majority of experts agreed that there are cases of inadequate use of the term syndrome in diagnostic discussions, its negative repercussion in the medical diagnosis, possible causes, need for consensus with some divergences, among three groups of experts, regarding forms of manifestation, other influential factors and especially on the extension of the syndrome concept, through the inclusion of signs of complementary examinations and their possible consequence in the algorithm of the clinical method. Conclusions: although most experts agreed on the existence of inappropriate use of the term syndrome and other related aspects, the existence of divergences, especially on the conceptual replacement of the term and its repercussion in the diagnostic process, suggests the existence of a heterodox school (minority), an orthodox or traditional school (majority) and an eclectic school, intermediate in number of experts.

Analysis of the rs13306560 functional variant in the promoter region of the MTHFR gene in sporadic Parkinson´s disease.

OBJECTIVE: Among susceptibility genes for Sporadic Parkinson´s Disease (SPD), the MTHFR gene has been suggested as candidate. The A allele of the functional variant rs13306560 in its promoter region has been liked to decreased transactivation capacity. Therefore, we sought to determine a possible association of the rs13306560 and SPD. METHODS: In total, 237 individuals were genotyped, 113 patients with SPD diagnosed according to the Queen Square Brain Bank criteria and 124 neurologically healthy controls. Genotyping was performed using TaqMan probes for the rs13306560 and real-time PCR. RESULTS: The A allelle was associated to protection in SPD, under the dominant model, (OR=0.22, C.I.=[0.048-1.080], p=0.04), nevertheless, after logistic regression analysis with adjustment for gender, resulted only in a trend (Exp (ß)=0.211, [I.C. 95.0%, 0.042-1.057], p=0.058). CONCLUSION: Although further studies are needed, our data suggest an important role of the MTHFR gene variants in the fine-tuning regulation of one-carbon metabolism in the brain.

Síndrome. Empleo inadecuado del término en la Discusión Diagnóstica. Semejanzas y divergencias en el criterio de expertos / Inappropriate use of the term Syndrome in the Diagnostic Discussion. Similarities and divergences in the criterion of experts

Introducción: hay casos de uso inadecuado del término síndrome en la discusión diagnóstica, en el Hospital Universitario V.I. Lenin de Holguín, lo que puede deberse a diversos factores.Objetivo: identificar, según el criterio de expertos, si existen en otras provincias de Cuba casos de uso inadecuado del término síndrome en la discusión diagnóstica, su repercusión negativa en el diagnóstico médico, principales manifestaciones del uso inadecuado, probables causas, necesidad de consenso y de reemplazo conceptual.Métodos: estudio observacional descriptivo con triangulación metodológica. Muestra intencionada de 15 expertos de diferentes provincias, profesores auxiliar o titular, máster, doctor en ciencias o ambos y especialistas de primer o segundo grado en medicina interna, quienes contestaron, por vía electrónica, una encuesta con diversos ítems y preguntas, tipo Escala Likert. La encuesta fue validada estadísticamente, los datos fueron procesados con uso de la mediana y de cuartiles mediante: test de Anova, coeficiente de correlación de Kendall y análisis clúster.Resultados: la mayoría de expertos concordaron en que existen casos de uso inadecuado del término síndrome en las discusiones diagnósticas, su negativa repercusión en el diagnóstico médico, posibles causas, necesidad de consenso con algunas divergencias, entre tres grupos de expertos, respecto a formas de manifestarse, otros factores influyentes y en especial sobre la ampliación del concepto síndrome, mediante la inclusión de signos propios de los exámenes complementarios, y su posible consecuencia en el algoritmo del método clínico.(AU)

Introduction: there have been cases of misuse of the term syndrome in diagnostic discussion at the University Hospital of Holguin V.I. Lenin, which may be due to several factors.Objective: to identify, according to expert criteria, if there are cases of inappropriate use of the term syndrome in the diagnostic discussion in other provinces of Cuba, its negative repercussion in the medical diagnosis, main manifestations of the inadequate use, probable causes, need of consensus and of conceptual replacement.Method: descriptive observational study with methodological triangulation. Intentional sample of 15 experts from different provinces, assistant or master professors, master, doctor of science or both and specialists of first or second degree on internal medicine, who answered, electronically, a survey with various items and questions, Likert Scale. The survey was statistically validated; the data were processed using the median and quartiles using: anova test, Kendall correlation coefficient and cluster analysis.Results: the majority of experts agreed that there are cases of inadequate use of the term syndrome in diagnostic discussions, its negative repercussion in the medical diagnosis, possible causes, need for consensus with some divergences, among three groups of experts, regarding forms of manifestation, other influential factors and especially on the extension of the syndrome concept, through the inclusion of signs of complementary examinations and their possible consequence in the algorithm of the clinical method.(AU)

Transcriptomic analysis of the process of biofilm formation in Rhizobium etli CFN42.

Organisms belonging to the genus Rhizobium colonize leguminous plant roots and establish a mutually beneficial symbiosis. Biofilms are structured ecosystems in which microbes are embedded in a matrix of extracellular polymeric substances, and their development is a multistep process. The biofilm formation processes of R. etli CFN42 were analyzed at an early (24-h incubation) and mature stage (72 h), comparing cells in the biofilm with cells remaining in the planktonic stage. A genome-wide microarray analysis identified 498 differentially regulated genes, implying that expression of ~8.3 % of the total R. etli gene content was altered during biofilm formation. In biofilms-attached cells, genes encoding proteins with diverse functions were overexpressed including genes involved in membrane synthesis, transport and chemotaxis, repression of flagellin synthesis, as well as surface components (particularly exopolysaccharides and lipopolysaccharides), in combination with the presence of activators or stimulators of N-acyl-homoserine lactone synthesis This suggests that R. etli is able to sense surrounding environmental conditions and accordingly regulate the transition from planktonic and biofilm growth. In contrast, planktonic cells differentially expressed genes associated with transport, motility (flagellar and twitching) and inhibition of exopolysaccharide synthesis. To our knowledge, this is the first report of nodulation and nitrogen assimilation-related genes being involved in biofilm formation in R. etli. These results contribute to the understanding of the physiological changes involved in biofilm formation by bacteria.

Modelo del proceso de formación estadística investigativa del docente universitario en el posgrado / Model of the process of the investigative statistical formation in the postgraduate university student's

En la actualidad existen deficiencias en el proceso de formación posgraduada del docente universitario. Objetivo: Proponer un modelo para el proceso de formación estadística investigativa en el posgrado. Desarrollo Se sustenta en la teoría holístico configuracional, y en consecuencia, parte de las contradicciones que se manifiestan entre los pares de categorías comprensión de variables de investigación y la interpretación cuantitativa cualitativa de la realidad investigada, así como desde aplicación de técnicas de análisis de datos y la valoración estadística descriptiva y/o inferencial, relaciones dialécticas que dinamizan en todo momento la modelación y a la vez le dan coherencia e integración, y desde las cuales se originan los movimientos y transformaciones en la sistematización del contenido estadístico investigativo. Conclusiones: El modelo además de su relevancia, tiene una estructuración coherente y lógica en el tramado de relaciones que se establecen entre sus categorías, así como fundamentos teóricos bien argumentados(AU)

At the present time there are some deficiencies in the process of formation of the postgraduate university students. Objective: To propose a model for the process of investigative statistical formation in the postgraduate. Development: It is sustained in the holistic configurationally theory , and in consequence parts of the contradictions that are manifested between the pairs of categories understanding of variables investigation and the qualitative quantitative interpretation of the investigated reality, as well as from application of analysis techniques of data and the descriptive statistical valuation and/or inferential, dialectical relationships that energize in all moment the modulation and at the same time give them coherence and integration, and from which originate the movements and transformations in the systematizing of the investigative statistical content. Conclusions: The pattern besides its relevance, has a coherent structuring and logic in the schemed of relationships that are settled down among its categories, as well as well-argued theoretical foundations(AU)

Modelo del proceso de formación estadística investigativa del docente universitario en el posgrado / Model of the process of the investigative statistical formation in the postgraduate university student's

Fundamento: En la actualidad existen deficiencias en el proceso de formación posgraduada del docente universitario. Objetivo: Proponer un modelo para el proceso de formación estadística investigativa en el posgrado. Desarrollo Se sustenta en la teoría holístico configuracional, y en consecuencia, parte de las contradicciones que se manifiestan entre los pares de categorías comprensión de variables de investigación y la interpretación cuantitativa cualitativa de la realidad investigada, así como desde aplicación de técnicas de análisis de datos y la valoración estadística descriptiva y/o inferencial, relaciones dialécticas que dinamizan en todo momento la modelación y a la vez le dan coherencia e integración, y desde las cuales se originan los movimientos y transformaciones en la sistematización del contenido estadístico investigativo. Conclusiones: El modelo además de su relevancia, tiene una estructuración coherente y lógica en el tramado de relaciones que se establecen entre sus categorías, así como fundamentos teóricos bien argumentados.

Background: At the present time there are some deficiencies in the process of formation of the postgraduate university students. Objective: To propose a model for the process of investigative statistical formation in the postgraduate. Development: It is sustained in the holistic configurationally theory , and in consequence parts of the contradictions that are manifested between the pairs of categories understanding of variables investigation and the qualitative quantitative interpretation of the investigated reality, as well as from application of analysis techniques of data and the descriptive statistical valuation and/or inferential, dialectical relationships that energize in all moment the modulation and at the same time give them coherence and integration, and from which originate the movements and transformations in the systematizing of the investigative statistical content. Conclusions: The pattern besides its relevance, has a coherent structuring and logic in the schemed of relationships that are settled down among its categories, as well as well-argued theoretical foundations.