Improved accuracy and robustness of electron density profiles from JET's X-mode frequency-modulated continuous-wave reflectometers.

JET's frequency-modulated continuous wave (FMCW) reflectometers have been operating well with the current design since 2005, and density profiles have been automatically calculated intershot since then. However, the calculated profiles had long suffered from several shortcomings: poor agreement with other diagnostics, sometimes inappropriately moving radially by several centimeters, elevated levels of radial jitter, and persistent wriggles (strong unphysical oscillations). In this research, several techniques are applied to the reflectometry data analysis, and the shortcomings are significantly improved. Starting with improving the equilibrium reconstruction that estimates the background magnetic field, adding a ripple correction in the reconstructed magnetic field profile, and adding new inner-wall reflection positions estimated through ray-tracing, these changes not only improve the agreement of reconstructed profiles to other diagnostics but also solve density profile wriggles that were present during band transitions. Other smaller but also persistent wriggles were also suppressed by applying a localized correction to the measured beat frequency where persistent oscillations are present. Finally, the burst analysis method, as introduced by Varela et al. [Nucl. Fusion 46 S693 (2006)], has been implemented to extract the beat frequency from stacked spectrograms. Due to the strong suppression of spurious reflections, the radial jitter that sometimes would span several centimeters has been strongly reduced. The stacking of spectrograms has also been shown to be very useful for stacking recurring events, like small gas puff modulations, and extracting transport coefficients that would otherwise be below the noise level.

Transthyretin amyloid polyneuropathy in France: A cross-sectional study with 413 patients and real-world tafamidis meglumine use (2009-2019).

OBJECTIVE: We aimed to describe characteristics of patients with ATTR variant polyneuropathy (ATTRv-PN) and ATTRv-mixed and assess the real-world use and safety profile of tafamidis meglumine 20mg. METHODS: Thirty-eight French hospitals were invited. Patient files were reviewed to identify clinical manifestations, diagnostic methods, and treatment compliance. RESULTS: Four hundred and thirteen patients (296 ATTRv-PN, 117 ATTRv-mixed) were analyzed. Patients were predominantly male (68.0%) with a mean age of 57.2±17.2 years. Interval between first symptom(s) and diagnosis was 3.4±4.3 years. First symptoms included sensory complaints (85.9%), dysautonomia (38.5%), motor deficits (26.4%), carpal tunnel syndrome (31.5%), shortness of breath (13.3%), and unexplained weight loss (16.0%). Mini-invasive accessory salivary gland or punch skin and nerve biopsies were most common, with a performance of 78.8-100%. TTR genetic sequencing, performed in all patients, revealed 31 TTR variants. Tafamidis meglumine was initiated in 156/214 (72.9%) ATTRv-PN patients at an early disease stage. Median treatment duration was 6.00 years in ATTRv-PN and 3.42 years in ATTRv-mixed patients. Tafamidis was well tolerated, with 20 adverse events likely related to study drug among the 336 patients. CONCLUSION: In France, ATTRv patients are usually identified early thanks to the national network and the help of diagnosis combining genetic testing and mini-invasive biopsies.

Altered patterning of neural activity in a tauopathy mouse model.

Alzheimer's disease (AD) is a complex neurodegenerative condition that manifests at multiple levels and involves a spectrum of abnormalities ranging from the cellular to cognitive. Here, we investigate the impact of AD-related tau-pathology on hippocampal circuits in mice engaged in spatial navigation, and study changes of neuronal firing and dynamics of extracellular fields. While most studies are based on analyzing instantaneous or time-averaged characteristics of neuronal activity, we focus on intermediate timescales-spike trains and waveforms of oscillatory potentials, which we consider as single entities. We find that, in healthy mice, spike arrangements and wave patterns (series of crests or troughs) are coupled to the animal's location, speed, and acceleration. In contrast, in tau-mice, neural activity is structurally disarrayed: brainwave cadence is detached from locomotion, spatial selectivity is lost, the spike flow is scrambled. Importantly, these alterations start early and accumulate with age, which exposes progressive disinvolvement the hippocampus circuit in spatial navigation. These features highlight qualitatively different neurodynamics than the ones provided by conventional analyses, and are more salient, thus revealing a new level of the hippocampal circuit disruptions.

Clinical practice guidelines for the diagnosis and management of Charcot-Marie-Tooth disease.

INTRODUCTION: Charcot-Marie-Tooth disease (CMT) is classified according to neurophysiological and histological findings, the inheritance pattern, and the underlying genetic defect. The objective of these guidelines is to offer recommendations for the diagnosis, prognosis, follow-up, and treatment of this disease in Spain. MATERIAL AND METHODS: These consensus guidelines were developed through collaboration by a multidisciplinary panel encompassing a broad group of experts on the subject, including neurologists, paediatric neurologists, geneticists, physiatrists, and orthopaedic surgeons. RECOMMENDATIONS: The diagnosis of CMT is clinical, with patients usually presenting a common or classical phenotype. Clinical assessment should be followed by an appropriate neurophysiological study; specific recommendations are established for the parameters that should be included. Genetic diagnosis should be approached sequentially; once PMP22 duplication has been ruled out, if appropriate, a next-generation sequencing study should be considered, taking into account the limitations of the available techniques. To date, no pharmacological disease-modifying treatment is available, but symptomatic management, guided by a multidiciplinary team, is important, as is proper rehabilitation and orthopaedic management. The latter should be initiated early to identify and improve the patient's functional deficits, and should include individualised exercise guidelines, orthotic adaptation, and assessment of conservative surgeries such as tendon transfer. The follow-up of patients with CMT is exclusively clinical, and ancillary testing is not necessary in routine clinical practice.

Cognitive rehabilitation program in patients with multiple sclerosis: A pilot study.

INTRODUCTION: In recent years, there has been an increase of studies dedicated to cognitive rehabilitation in patients with multiple sclerosis (MS); however, few of these analyze the impact on such variables as cognitive reserve. The study aims to explore the effects of a cognitive rehabilitation program comprising a combination of cognitive and physical exercises, as well as group sessions to improve cognitive performance, emotional state, and cognitive reserve index. METHOD: Fifty patients with MS were subdivided into 2 groups: the control group, which performed aerobic exercise (n=25), and the experimental group (n=25), which participated in the integrated cognitive rehabilitation program (ICRP). All participants were evaluated 3 times (baseline, post-treatment, and long-term) with the Brief Repeatable Battery of Neuropsychological Tests, Cognitive Reserve Scale, Beck Depression Inventory, and a scale evaluating trait and state anxiety. RESULTS: Compared with the control group, patients in the experimental group showed improvements in cognitive function, with significant changes in measures of information processing speed, attention, memory, cognitive reserve index, and long-term mood. CONCLUSIONS: The ICRP was effective in improving cognitive and emotional function in MS, and increased the cognitive reserve index.

Leader-follower formation control based on non-inertial frames for non-holonomic mobile robots.

A chain formation strategy based on mobile frames for a set of n differential drive mobile robots is presented. Considering two consecutive robots in the formation, robots Ri and Ri+1. It is intended that robot Ri+1 follows the delayed trajectory, τ units of time, of the leader robot Ri. In this way, the follower robot Ri+1 becomes the leader robot for robot Ri+ 2 in the formation and so on. With this formation policy, the trailing distance between two consecutive robots varies accordingly to the velocity of the Ri leader robot. Mobile frames are located on the body of the vehicles, in such a way that the position of robot Ri is determined with respect to the frame located on Ri+1 robot. The strategy relies on the fact that the general leader robot R1 describes any trajectory generated by bounded linear v1(t) and angular ω1(t) velocities. For the remaining vehicles in the string, the strategy considers a desired trajectory for the follower robot Ri+1 obtained by an estimation of the delayed trajectory of the leader robot Ri. This desired estimated trajectory is obtained under the knowledge of the actual and past input velocities of the Ri robot. To formally prove the convergence of the formation strategy, the equations describing the time variation of the relative posture between any pair of consecutive vehicles in the formation are obtained, and a feedback law based on local measurements is proposed to get the convergence of robot Ri+1 to the delayed trajectory, τ units of time, of the trajectory previously described by robot Ri. Lyapunov techniques are considered for this fact. The effectiveness of the chain formation solution is evaluated by means of numerical simulations and real time experiments showing an adequate convergence.

Determination of Corneal Power after Refractive Surgery with Excimer Laser: A Concise Review.

Refractive surgery with excimer laser has been a very common surgical procedure worldwide during the last decades. Currently, patients who underwent refractive surgery years ago are older, with a growing number of them now needing cataract surgery. To establish the power of the intraocular lens to be implanted in these patients, it is essential to define the true corneal power. However, since the refractive surgery modified the anterior, but not the posterior surface of the cornea, the determination of the corneal power in this group of patients is challenging. This article reviews the different sources of error in finding the true corneal power in these cases, and comments on several approaches, including the clinical history method as described originally by Holladay, and a modified version of it, as well as new alternatives based on corneal tomography, using devices that are able to measure the actual anterior and posterior corneal curvatures, which have emerged in recent years to address this issue.

Factors associated with embryo mosaicism: a systematic review and meta-analysis.

PURPOSE: Evaluate which factors are involved in the increased rate of mosaicism in embryos. METHODS: A systematic review and meta-analysis was performed. After an exhaustive search of the literature, a total of seven papers were included in the analysis. In addition, data collected from IVF cycles performed in our fertility clinic were also analysed. Day of biopsy, embryo quality, maternal and paternal age and seminal quality were the chosen factors to be studied. RESULTS: The results of the meta-analysis show that neither embryo quality nor seminal quality were related to mosaic embryo rate (OR: 1.09; 95% CI: 0.94-1.28 and OR: 1.10; 95% CI: 0.87-1.37, respectively). A positive association was observed for the variable "biopsy day" with embryos biopsied at day 6 or 7 having the highest rate of mosaicism (OR: 1.06; 95% CI: 1.01-1.11). In opposite to what happens with aneuploidy rate, which increases with maternal age, embryo mosaicism is higher in younger women (<34 years) rather than in older ones (≥34 years) (OR: 0.95; 95% CI: 0.92-0.98). However, for the "paternal age" factor, no association with mosaicism was found (OR: 1.04; 95% CI: 0.90-1.21). CONCLUSIONS: With the present study, we can conclude that the factors related to the presence of mosaicism in embryos are the embryo biopsy day and maternal age. The rest of the studied factors showed no significant relationship with mosaicism. These results are of great importance as knowing the possible causes leading to mosaicism helps to improve the clinical results of reproductive treatments.

[Family planning in men and women with multiple sclerosis. Analysis of the Andalusian Registry (2018-2022)]. / Planificación familiar en hombres y mujeres con esclerosis múltiple. Análisis del Registro Andaluz (2018-2022).

INTRODUCTION: The Andalusian Registry of Pregnancies in patients with multiple sclerosis is the largest Spanish registry on multiple sclerosis (MS) and family planning. For the first time, it includes information on the fertility of men with MS. The influence of the use of a disease-modifying treatment (DMT) on the health of the foetus/newborn and the impact of breastfeeding on MS are also analysed. SUBJECTS AND METHODS: This is a multicentre, prospective and observational study. Recruitment of patients took place between December 2018 and December 2020. Women were followed up for one year after delivery. Altogether 100 women and 16 men were included, with a total of 103 newborn infants. RESULTS: The annualised relapse rate of the women with MS decreased significantly during pregnancy (from 0.23 to 0.065). A total of 11.2% of patients resorted to assisted reproductive techniques in order to conceive a child. No association was found between the use of a DMT at conception and/or pregnancy and the risk of miscarriage, prematurity or low birth weight. Over half the women with MS (54.2%) chose to breastfeed (26.7% of them while on a DMT). CONCLUSIONS: MS does not affect the fertility of men. Neither does the use of a DMT at the time of conception affect their fertility or their children's health. Assisted reproductive techniques did not have a negative impact on the course of MS. Breastfeeding is a common practice among women with MS and there is no evidence of positive or negative effects on disease progression.

TITLE: Planificación familiar en hombres y mujeres con esclerosis múltiple. Análisis del Registro Andaluz (2018-2022).Introducción. El Registro Andaluz de Embarazos en pacientes con esclerosis múltiple (EM) es el mayor registro español sobre EM y planificación familiar. Por primera vez se incluye información sobre la fertilidad de hombres con EM. También se analizan la influencia del uso de un tratamiento modificador de la enfermedad (TME) en la salud del feto o recién nacido y el impacto de la lactancia materna en la EM. Sujetos y métodos. Es un estudio observacional, prospectivo y multicéntrico. El reclutamiento de pacientes se hizo entre diciembre de 2018 y diciembre de 2020. El seguimiento de las mujeres tras el parto fue de un año. Se incluyó a 100 mujeres y 16 hombres, con un total de 103 recién nacidos. Resultados. La tasa anualizada de brotes de las mujeres con EM descendió durante el embarazo de forma significativa (de 0,23 a 0,065). Un 11,2% de los pacientes recurrieron a técnicas de reproducción asistida para conseguir la gestación. No se encontró relación entre el uso de un TME en la concepción y/o embarazo y el riesgo de aborto, prematuridad o bajo peso al nacer. El 54,2% de las mujeres con EM optaron por dar lactancia (el 26,7% de ellas usando un TME). Conclusiones. La EM no afecta a la fertilidad de los hombres. Tampoco influye en ésta, ni en la salud de sus hijos, el uso de un TME en el momento de la concepción. Las técnicas de reproducción asistida no impactaron negativamente en la evolución de la EM. La lactancia se impone como una práctica habitual entre las mujeres con EM y no se evidencian efectos positivos o negativos sobre la evolución de la enfermedad.

Planificación familiar en hombres y mujeres con esclerosis múltiple. Análisis del Registro Andaluz (2018-2022) / Family planning in men and women with multiple sclerosis. Analysis of the Andalusian Registry (2018-2022)

Introducción: El Registro Andaluz de Embarazos en pacientes con esclerosis múltiple (EM) es el mayor registro español sobre EM y planificación familiar. Por primera vez se incluye información sobre la fertilidad de hombres con EM. También se analizan la influencia del uso de un tratamiento modificador de la enfermedad (TME) en la salud del feto o recién nacido y el impacto de la lactancia materna en la EM. Sujetos y métodos: Es un estudio observacional, prospectivo y multicéntrico. El reclutamiento de pacientes se hizo entre diciembre de 2018 y diciembre de 2020. El seguimiento de las mujeres tras el parto fue de un año. Se incluyó a 100 mujeres y 16 hombres, con un total de 103 recién nacidos. Resultados: La tasa anualizada de brotes de las mujeres con EM descendió durante el embarazo de forma significativa (de 0,23 a 0,065). Un 11,2% de los pacientes recurrieron a técnicas de reproducción asistida para conseguir la gestación. No se encontró relación entre el uso de un TME en la concepción y/o embarazo y el riesgo de aborto, prematuridad o bajo peso al nacer. El 54,2% de las mujeres con EM optaron por dar lactancia (el 26,7% de ellas usando un TME). Conclusiones: La EM no afecta a la fertilidad de los hombres. Tampoco influye en ésta, ni en la salud de sus hijos, el uso de un TME en el momento de la concepción. Las técnicas de reproducción asistida no impactaron negativamente en la evolución de la EM. La lactancia se impone como una práctica habitual entre las mujeres con EM y no se evidencian efectos positivos o negativos sobre la evolución de la enfermedad.(AU)

Introduction: The Andalusian Registry of Pregnancies in patients with multiple sclerosis is the largest Spanish registry on multiple sclerosis (MS) and family planning. For the first time, it includes information on the fertility of men with MS. The influence of the use of a disease-modifying treatment (DMT) on the health of the foetus/newborn and the impact of breastfeeding on MS are also analysed. Subjects and methods: This is a multicentre, prospective and observational study. Recruitment of patients took place between December 2018 and December 2020. Women were followed up for one year after delivery. Altogether 100 women and 16 men were included, with a total of 103 newborn infants. Results: The annualised relapse rate of the women with MS decreased significantly during pregnancy (from 0.23 to 0.065). A total of 11.2% of patients resorted to assisted reproductive techniques in order to conceive a child. No association was found between the use of a DMT at conception and/or pregnancy and the risk of miscarriage, prematurity or low birth weight. Over half the women with MS (54.2%) chose to breastfeed (26.7% of them while on a DMT). Conclusions: MS does not affect the fertility of men. Neither does the use of a DMT at the time of conception affect their fertility or their children’s health. Assisted reproductive techniques did not have a negative impact on the course of MS. Breastfeeding is a common practice among women with MS and there is no evidence of positive or negative effects on disease progression.(AU)

The World Animal Health Information System as a tool to support decision-making and research in animal health.

The World Animal Health Information System (WAHIS) collects and publishes a wealth of information gathered by individual countries' Veterinary Services, including detailed country-specific information on outbreaks of diseases listed by the World Organisation for Animal Health (WOAH, founded as OIE), including emerging diseases, in domestic animals and wildlife, and non-listed diseases in wildlife. The data set is one of the most comprehensive in the world, with 182 Members obliged to report this information to WOAH in a timely manner. As such, the data provide invaluable input for Veterinary Services, animal health researchers and stakeholders to gain insight into risk from infectious diseases, for example through the development of predictive models and risk assessments to address the risk from trade of animal products, globalisation, or movement of wildlife or vectors across country borders. This paper reviews previous analyses that have been conducted using WAHIS data and outlines ways in which these data can be used for preparedness and risk assessment.

Le Système mondial d'information zoosanitaire (WAHIS) collecte et publie une grande quantité d'informations recueillies auprès des Services vétérinaires nationaux, parmi lesquelles des données détaillées spécifiques aux pays sur les foyers de maladies listées par l'Organisation mondiale de la santé animale (OMSA, fondée en tant qu'OIE), dont les maladies émergentes, chez les animaux domestiques et dans la faune sauvage, ainsi que de maladies non listées affectant la faune sauvage. Cet ensemble de données est l'un des plus exhaustifs du monde puisque les 182 Membres de l'OMSA ont l'obligation de lui faire remonter ces informations dans WAHIS dans des délais spécifiés. Ces données sont précieuses pour les Services vétérinaires, les chercheurs travaillant dans le domaine de la santé animale et les parties prenantes car elles permettent de mieux comprendre les risques relatifs aux maladies infectieuses, notamment grâce aux modèles prédictifs et aux évaluations de risques pour traiter le risque lié au commerce de produits d'origine animale, à la mondialisation, aux mouvements de la faune sauvage ou aux vecteurs entre les pays. Les auteurs font le point sur des analyses antérieures qui ont été menées en utilisant les données de WAHIS et soulignent comment ces données peuvent être utilisées dans le cadre d'un travail de préparation et d'évaluation des risques.

El Sistema Mundial de Información Zoosanitaria (WAHIS) colecta y publica una gran cantidad de datos recogidos por los Servicios Veterinarios de cada país, en particular detallada información sobre brotes de enfermedades listadas por la Organización Mundial de Sanidad Animal (OMSA, fundada como OIE), incluidas las enfermedades emergentes, que hayan afectado a los animales domésticos o la fauna silvestre, así como enfermedades no listadas que afectan a la fauna silvestre. Se trata de uno de los conjuntos de datos más completos del mundo, ya que los 182 Miembros tienen la obligación de comunicar esta información a la OMSA dentro de plazos determinados. Estos datos son una fuente de información de gran utilidad para los Servicios Veterinarios, los investigadores que trabajan en sanidad animal y demás partes interesadas porque permiten mejorar la comprensión de los riesgos derivados de las enfermedades infecciosas, por ejemplo elaborando modelos predictivos y evaluaciones de riesgo que ayuden a manejar los riesgos ligados al comercio de productos de origen animal, la globalización o al movimiento transfronterizo de animales salvajes o vectores de enfermedad. Los autores repasan una serie de análisis previamente realizados con datos de WAHIS y explican en síntesis cómo pueden utilizarse estos datos con fines de preparación y evaluación de riesgos.

Ticks harbor and excrete chronic wasting disease prions.

Chronic wasting disease (CWD) is a fatal neurodegenerative disease caused by infectious prions (PrPCWD) affecting cervids. Circulating PrPCWD in blood may pose a risk for indirect transmission by way of hematophagous ectoparasites acting as mechanical vectors. Cervids can carry high tick infestations and exhibit allogrooming, a common tick defense strategy between conspecifics. Ingestion of ticks during allogrooming may expose naïve animals to CWD, if ticks harbor PrPCWD. This study investigates whether ticks can harbor transmission-relevant quantities of PrPCWD by combining experimental tick feeding trials and evaluation of ticks from free-ranging white-tailed deer (Odocoileus virginianus). Using the real-time quaking-induced conversion (RT-QuIC) assay, we show that black-legged ticks (Ixodes scapularis) fed PrPCWD-spiked blood using artificial membranes ingest and excrete PrPCWD. Combining results of RT-QuIC and protein misfolding cyclic amplification, we detected seeding activity from 6 of 15 (40%) pooled tick samples collected from wild CWD-infected white-tailed deer. Seeding activities in ticks were analogous to 10-1000 ng of CWD-positive retropharyngeal lymph node collected from deer upon which they were feeding. Estimates revealed a median infectious dose range of 0.3-42.4 per tick, suggesting that ticks can take up transmission-relevant amounts of PrPCWD and may pose a CWD risk to cervids.

Identification of novel candidate genes associated with meiotic aneuploidy in human embryos by whole-exome sequencing.

PURPOSE: To identify novel genetic variants responsible for meiotic embryonic aneuploidy. METHODS: A prospective observational cohort study that included 29 couples who underwent trophectoderm biopsies from 127 embryos and performed whole-exome sequencing (WES) between November 2019 and March 2022. Patients were divided into two groups according to the expected embryo aneuploidy rate based on maternal age. RESULTS: After variant filtering in the WES analysis of 58 patients/donors, five heterozygous variants were identified in female partners from the study group that had an impact on embryo aneuploidy. Additionally, a slowdown in embryo development and a decrease in the number of blastocysts available for biopsy were observed in the study group embryos. CONCLUSION: This study has identified new candidate genes and variants not previously associated with meiotic embryo aneuploidy, but which are involved in important biological processes related to cell division and chromosome segregation. WES may be an efficient tool to identify patients with a higher-than-expected risk of embryo aneuploidy based on maternal age and allow for individualized genetic counselling prior to treatment.

Survival analysis of productive life in Florida dairy goats using a Cox proportional hazards model.

Longevity is an economically important trait, since extending the functional life of a doe would allow us to keep the most productive females in the herd as long as possible, and this could result in the increased profitability of dairy farms. Thus, the objectives of this study were to determine the most important factors that influence the length of productive life (LPL) of female Florida goats and to estimate its genetic additive variance using a Cox proportional hazards model. The data consisted of 70,695 productive life records from 25,722 Florida females kidding between 2006 and 2020. A total of 19,495 does had completed their productive life while 6227 (24.2%) does had censored information. The pedigree contained information on 56,901 animals. The average censoring age and average failure age after first kidding for LPL were 36 and 47 months respectively. The model included, as time-independent effects, the age at first kidding and the interaction between herd, year and season of birth of the doe, and as time-dependent effects, the age at kidding, the interaction between herd, year and season of kidding, the within-herd class of milk production deviation, and the interaction between the lactation number and the stage of lactation. All fixed effects had a significant effect on LPL (p < 0.05). Does with older ages at the first kidding and an earlier age at kidding were at higher risk of being culled. A large difference among herds was observed in terms of culling risk, which highlighted the importance of adequate management practices. Also, high-producing does were less likely to be culled. The estimate of the additive genetic variance was 1.844 (in genetic standard deviation), with a heritability estimate of 0.58 ± 0.012. The results of this study are expected to contribute to the development of a genetic model for genetic evaluation of the length of the productive life of Spanish dairy goat breeds.

Cáncer colorrectal ­ diagnóstico y tratamiento: revisión bibliográfica / Colorectal cancer ­ diagnosis and treatment: literature review

Colorectal cancer (CRC) is the third most prevalent cancer worldwide. Although improvements in detection and treatment have been implemented; CRC incidence, prevalence, and mortality remain high, even in developed countries. The risk of developing this cancer is related to poor eating habits, smoking, inflammatory bowel disease, polyps, genetic factors, and aging. There are several methods for detecting colorectal cancer, including the guaiac test, stool immunochemical test, stool DNA test, sigmoidoscopy, colonoscopy, and barium enema. The stage at which the cancer is detected determines the patient's prognosis, survival, and treatment. Treatments include endoscopic and surgical local excision, preoperative radiation therapy and systemic downstage therapy, extensive surgery for locoregional and metastatic disease, local ablative therapies for metastases, and palliative, targeted chemotherapy and immunotherapy.

El cáncer colorrectal (CCR) es el tercer cáncer más prevalente a nivel mundial. A pesar de que se han implementado mejoras en la detección y el tratamiento; la incidencia, la prevalencia y la mortalidad del CCR siguen siendo altas, incluso en países desarrollados. El riesgo de desarrollar este cáncer está relacionado con malos hábitos alimentarios, tabaquismo, enfermedad inflamatoria intestinal, pólipos, factores genéticos y envejecimiento. Existen varios métodos para detectar el cáncer colorrectal, como la prueba de guayaco, la prueba inmunoquímica de heces, la prueba de ADN en heces, la sigmoidoscopia, la colonoscopia y el enema de bario. El estadio en el que se detecta el cáncer determina el pronóstico, la supervivencia y el tratamiento del paciente. Los tratamientos incluyen escisión local endoscópica y quirúrgica, radioterapia preoperatoria y terapia sistémica de reducción del estadio, cirugía extensa para enfermedad locorregional y metastásica, terapias ablativas locales para metástasis y quimioterapia paliativa, terapia dirigida e inmunoterapia.

Unusual Magnetic Hysteresis and Transition between Vortex and Double Pole States Arising from Interlayer Coupling in Diamond-Shaped Nanostructures.

Controlling the magnetic ground states at the nanoscale is a long-standing basic research problem and an important issue in magnetic storage technologies. Here, we designed a nanostructured material that exhibits very unusual hysteresis loops due to a transition between vortex and double pole states. Arrays of 700 nm diamond-shaped nanodots consisting of Py(30 nm)/Ru(tRu)/Py(30 nm) (Py, permalloy (Ni80Fe20)) trilayers were fabricated by interference lithography and e-beam evaporation. We show that varying the Ru interlayer spacer thickness (tRu) governs the interaction between the Py layers. We found this interaction mainly mediated by two mechanisms: magnetostatic interaction that favors antiparallel (antiferromagnetic, AFM) alignment of the Py layers and exchange interaction that oscillates between ferromagnetic (FM) and AFM couplings. For a certain range of Ru thicknesses, FM coupling dominates and forms magnetic vortices in the upper and lower Py layers. For Ru thicknesses at which AFM coupling dominates, the magnetic state in remanence is a double pole structure. Our results showed that the interlayer exchange coupling interaction remains finite even at 4 nm Ru thickness. The magnetic states in remanence, observed by magnetic force microscopy (MFM), are in good agreement with corresponding hysteresis loops obtained by the magneto-optic Kerr effect (MOKE) and micromagnetic simulations.

Prevalence of three Mycoplasma sp. by multiplex PCR in cattle with and without respiratory disease in central Mexico.

This study aimed to identify Mycoplasma bovis, Myc. dispar, and Myc. bovirhinis, which are involved in bovine respiratory disease through a multiplex PCR as an alternative to culture's features that hamper Mycoplasma isolation. Nasal swabs were taken from 335 cattle with and without respiratory disease background (RDB) from dairy herds in the central region of Mexico. Each sample was divided in two; the first part was processed for the direct DNA extraction of the nasal swab and the second for Mycoplasma isolation, culture, and then the multiplex PCR was performed. In the nasal swabs, Myc. bovis was identified in 21.1%; Myc. dispar, in 11.8%; and Myc. bovirhinis, in 10.8% in cattle with RDB. Isolates were identified as Myc. bovis, 20.1%; Myc. dispar, 11.8%; and Myc. bovirhinis, 6.1%. There is a strong correlation between the presence of Mycoplasma identified by PCR and the clinical history of the disease (ρ < 0.0000). In animals without RDB, Myc. bovirhinis was the only species detected in 6.1% of the samples processed directly for multiplex PCR, and in 2% of the isolates. There is an excellent correlation (kappa 0.803) between the isolation and the 16S PCR and a high correlation (kappa 0.75) between the isolation and the multiplex PCR. Therefore, we conclude that the PCR multiplex test is highly sensitive and may be used for the diagnosis and surveillance of the three species in biological samples and mycoplasma isolates.

Identification of new variants and candidate genes in women with familial premature ovarian insufficiency using whole-exome sequencing.

PURPOSE: To identify candidate variants in genes possibly associated with premature ovarian insufficiency (POI). METHODS: Fourteen women, from 7 families, affected by idiopathic POI were included. Additionally, 98 oocyte donors of the same ethnicity were enrolled as a control group. Whole-exome sequencing (WES) was performed in 14 women with POI to identify possibly pathogenic variants in genes potentially associated with the ovarian function. The candidate genes selected in POI patients were analysed within the exome results of oocyte donors. RESULTS: After the variant filtering in the WES analysis of 7 POI families, 23 possibly damaging genetic variants were identified in 22 genes related to POI or linked to ovarian physiology. All variants were heterozygous and five of the seven families carried two or more variants in different genes. We have described genes that have never been associated to POI pathology; however, they are involved in important biological processes for ovarian function. In the 98 oocyte donors of the control group, we found no potentially pathogenic variants among the 22 candidate genes. CONCLUSION: WES has previously shown as an efficient tool to identify causative genes for ovarian failure. Although some studies have focused on it, and many genes are identified, this study proposes new candidate genes and variants, having potentially moderate/strong functional effects, associated with POI, and argues for a polygenic etiology of POI in some cases.

Fear of Relapse Scale: Spanish version and psychometric characteristics in a sample of patients with Relapsing-Remitting multiple sclerosis.

INTRODUCTION: Relapses are a hallmark of multiple sclerosis, being a characteristic feature of relapsing-remitting multiple sclerosis (RRMS). The occurrence of a relapse constitutes a source of significant discomfort that impacts all domains of daily life of patients with multiple sclerosis (PwMS). In this study we first explored the psychometric properties of the Spanish version of the Fear of Relapse Scale (FoR) in a sample of patients with RRMS. Besides, we explored the relationship between the Fear of Relapse Scale with fatigue and cognitive perceived deficits in our PwMS sample. METHODS: An online cross-sectional survey was conducted on 173 MS patients from 12 Spanish-speaking countries (Argentina, Mexico, Uruguay, Dominican Republic, Spain, Cuba, Colombia, Guatemala, Chile, Paraguay, Peru, and El Salvador). Confirmatory factor analysis (CFA) was performed to assess the factor structure of the scale. Multiple linear regression was used to evaluate the effects of health self-perception, fatigue, and perceived cognitive deficits over fear of relapse. RESULTS: The three-factor model in the CFA yielded a good model fit (χ2/df = 2.25, P < .001, RMSEA = .078, CFI = .91). McDonalds' Omega of the FoR (Spanish version) was .91. There was a statistically significant inverse correlation between FoR and health self-perception, and a positive correlation between FoR, fatigue, and perceived cognitive deficits. Finally, level of fatigue was a predictor of fear of relapse. CONCLUSIONS: The Spanish version of the Fear of Relapse Scale is a valid and reliable instrument to explore the experience of fear of relapse in patients with RRMS.

Identification of vaginal microbiome associated with IVF pregnancy.

The factors that cause a preterm birth (PTB) are not completely understood up to date. Moreover, PTB is more common in pregnancies achieved by in-vitro fertilization (IVF) than in spontaneous pregnancies. Our aim was to compare the composition of vaginal microbiome at 12 weeks of gestation between women who conceived naturally or through IVF in order to study whether IVF PTB-risk could be related to vaginal microbiome composition. We performed an observational, prospective and multicentre study among two public hospitals and a fertility private clinic in Spain. Vaginal swabs from 64 pregnant women at 12 weeks of gestation were collected to analyse the microbiome composition by sequencing the V3-V4 region of the 16S rRNA. Our results showed that the vaginal microbiome signature at 12 weeks of pregnancy was different from women who conceived naturally or through IVF. The beta diversity and the genus composition were different between both cohorts. Gardnerella, Neisseria, Prevotella, and Staphylococcus genus were enriched genus in the vaginal microbiome from the IVF group, allowing us to create a balance model to predict both cohorts. Moreover, at species level the L. iners abundance was higher and L. gasseri was lower in the IVF group. As a conclusion, our findings were consistent with a proposed framework in which IVF pregnancy are related to risk for preterm birth (PTB) suggesting vaginal microbiome could be the reason to the relation between IVF pregnancy and risk for PTB.