RNF212B E3 ligase is essential for crossover designation and maturation during male and female meiosis in the mouse.

Meiosis, a reductional cell division, relies on precise initiation, maturation, and resolution of crossovers (COs) during prophase I to ensure the accurate segregation of homologous chromosomes during metaphase I. This process is regulated by the interplay of RING-E3 ligases such as RNF212 and HEI10 in mammals. In this study, we functionally characterized a recently identified RING-E3 ligase, RNF212B. RNF212B colocalizes and interacts with RNF212, forming foci along chromosomes from zygonema onward in a synapsis-dependent and DSB-independent manner. These consolidate into larger foci at maturing COs, colocalizing with HEI10, CNTD1, and MLH1 by late pachynema. Genetically, RNF212B foci formation depends on Rnf212 but not on Msh4, Hei10, and Cntd1, while the unloading of RNF212B at the end of pachynema is dependent on Hei10 and Cntd1. Mice lacking RNF212B, or expressing an inactive RNF212B protein, exhibit modest synapsis defects, a reduction in the localization of pro-CO factors (MSH4, TEX11, RPA, MZIP2) and absence of late CO-intermediates (MLH1). This loss of most COs by diakinesis results in mostly univalent chromosomes. Double mutants for Rnf212b and Rnf212 exhibit an identical phenotype to that of Rnf212b single mutants, while double heterozygous demonstrate a dosage-dependent reduction in CO number, indicating a functional interplay between paralogs. SUMOylome analysis of testes from Rnf212b mutants and pull-down analysis of Sumo- and Ubiquitin-tagged HeLa cells, suggest that RNF212B is an E3-ligase with Ubiquitin activity, serving as a crucial factor for CO maturation. Thus, RNF212 and RNF212B play vital, yet overlapping roles, in ensuring CO homeostasis through their distinct E3 ligase activities.

Comprehensive genomic filtering algorithm to expose the cause of skewed X chromosome inactivation. The proof of concept in female haemophilia expression.

BACKGROUND: Exploring the expression of X linked disorders like haemophilia A (HA) in females involves understanding the balance achieved through X chromosome inactivation (XCI). Skewed XCI (SXCI) may be involved in symptomatic HA carriers. We aimed to develop an approach for dissecting the specific cause of SXCI and verify its value in HA. METHODS: A family involving three females (two symptomatic with severe/moderate HA: I.2, the mother, and II.1, the daughter; one asymptomatic: II.2) and two related affected males (I.1, the father and I.3, the maternal uncle) was studied. The genetic analysis included F8 mutational screening, multiplex ligation-dependent probe amplification, SNP microarray, whole exome sequencing (WES) and Sanger sequencing. XCI patterns were assessed in ectoderm/endoderm and mesoderm-derived tissues using AR-based and RP2-based systems. RESULTS: The comprehensive family analysis identifies I.2 female patient as a heterozygous carrier of F8:p.(Ser1414Ter) excluding copy number variations. A consistent XCI pattern of 99.5% across various tissues was observed. A comprehensive filtering algorithm for WES data was designed, developed and applied to I.2. A Gly58Arg missense variant in VMA21 was revealed as the cause for SXCI.Each step of the variant filtering system takes advantage of publicly available genomic databases, non-SXCI controls and case-specific molecular data, and aligns with established concepts in the theoretical background of SXCI. CONCLUSION: This study acts as a proof of concept for our genomic filtering algorithm's clinical utility in analysing X linked disorders. Our findings clarify the molecular aspects of SXCI and improve genetic diagnostics and counselling for families with X linked diseases like HA.

Characterization of Gelatin-Polycaprolactone Membranes by Electrospinning.

New advances in materials science and medicine have enabled the development of new and increasingly sophisticated biomaterials. One of the most widely used biopolymers is polycaprolactone (PCL) because it has properties suitable for biomedical applications, tissue engineering scaffolds, or drug delivery systems. However, PCL scaffolds do not have adequate bioactivity, and therefore, alternatives have been studied, such as mixing PCL with bioactive polymers such as gelatin, to promote cell growth. Thus, this work will deal with the fabrication of nanofiber membranes by means of the electrospinning technique using PCL-based solutions (12 wt.% and 20 wt.%) and PCL with gelatin (12 wt.% and 8 wt.%, respectively). Formic acid and acetic acid, as well as mixtures of both in different proportions, have been used to prepare the preliminary solutions, thus supporting the electrospinning process by controlling the viscosity of the solutions and, therefore, the size and uniformity of the fibers. The physical properties of the solutions and the morphological, mechanical, and thermal properties of the membranes were evaluated. Results demonstrate that it is possible to achieve the determined properties of the samples with an appropriate selection of polymer concentrations as well as solvents.

Generation of Meiotic Mouse Models Using CRISPR/Cas9 Technology.

In recent years, targeted genome editing has emerged as an indispensable tool for creating animal models, facilitating a comprehensive exploration of the molecular mechanisms governing a myriad of biological processes. Within this scientific landscape, the investigation of meiosis in mice has attracted considerable attention across numerous research laboratories. The precision and versatility of the CRISPR/Cas9 genome editing system have revolutionized our ability to generate mice with tailored genetic alterations, including point mutations and null mutations. These genetic modifications have provided invaluable insights into the intricate functionality of various meiotic genes and their associated variants. In this context, we present a detailed state of the art protocol for the creation of novel mouse models, each bearing specific genetic modifications within key meiotic genes, through the application of CRISPR/Cas9 technology. Furthermore, we showcase two distinct genetic modifications, accomplished within our laboratory, that can serve as valuable reference points for researchers seeking to elucidate the molecular intricacies of meiosis in mammals.

Surrogate metamodels from digital image correlation for testing high-performance composite vessels.

In this work, a workflow has been developed for the generation of surrogate metamodels to predict and evaluate failure with a confidence above 95 % in initial service conditions of high-performance cylindrical vessels manufactured in composites by Roll Wrapping technology. Currently, there is no specific testing standardization for this type of vessel and to fill this gap probabilistic numerical models were developed, performed by the Finite Element Method, fed with the material characteristics obtained experimentally by 2D digital image correlation from flat specimens. From the initial numerical model, a surrogate metamodel was generated by stochastic approximations. Once the metamodels were obtained by robust engineering, an experimental ring-ring tensile test was developed under service conditions and deformations were measured by high-precision 3D digital image correlation. Parametric and robust tests showed that the results of the metamodel did not show statistically significant differences, with errors in the rupture part of less than 2 % with respect to the results obtained in the test, being proposed as a basis for new test procedures.

A dataset of synthetic art dialogues with ChatGPT.

This paper introduces Art_GenEvalGPT, a novel dataset of synthetic dialogues centered on art generated through ChatGPT. Unlike existing datasets focused on conventional art-related tasks, Art_GenEvalGPT delves into nuanced conversations about art, encompassing a wide variety of artworks, artists, and genres, and incorporating emotional interventions, integrating speakers' subjective opinions and different roles for the conversational agents (e.g., teacher-student, expert guide, anthropic behavior or handling toxic users). Generation and evaluation stages of GenEvalGPT platform are used to create the dataset, which includes 13,870 synthetic dialogues, covering 799 distinct artworks, 378 different artists, and 26 art styles. Automatic and manual assessment proof the high quality of the synthetic dialogues generated. For the profile recovery, promising lexical and semantic metrics for objective and factual attributes are offered. For subjective attributes, the evaluation for detecting emotions or subjectivity in the interventions achieves 92% of accuracy using LLM-self assessment metrics.

A systematic review of pharmacogenetic testing to guide antipsychotic treatment.

Pharmacogenomics could optimize antipsychotic treatment by preventing adverse drug reactions, improving treatment efficacy or relieving the cost burden on the healthcare system. Here we conducted a systematic review to investigate whether pharmacogenetic testing in individuals undergoing antipsychotic treatment influences clinical or economic outcomes. On 12 January 2024, we searched MEDLINE, EMBASE, PsycINFO and Cochrane Centrale Register of Controlled Trials. The results were summarized using a narrative approach and summary tables. In total, 13 studies were eligible for inclusion in the systematic review. The current evidence base is either in favor of pharmacogenetics-guided prescribing or showed no difference between pharmacogenetics and treatment as usual for clinical and economic outcomes. In the future, we require randomized controlled trials with sufficient sample sizes that provide recommendations for patients who take antipsychotics based on a broad, multigene panel, with consistent and comparable clinical outcomes.

Overnight stay in Spanish emergency departments and mortality in older patients.

To assess whether older adults who spend a night in emergency departments (ED) awaiting admission are at increased risk of mortality. This was a retrospective review of a multipurpose cohort that recruited all patients ≥ 75 years who visited ED and were admitted to hospital on April 1 to 7, 2019, at 52 EDs across Spain. Study groups were: patients staying in ED from midnight until 8:00 a.m. (ED group) and patients admitted to a ward before midnight (ward group). The primary endpoint was in-hospital mortality, truncated at 30 days, and secondary outcomes assessed length of stay for the index episode. The sample comprised 3,243 patients (median [IQR] age, 85 [81-90] years; 53% women), with 1,096 (34%) in the ED group and 2,147 (66%) in the ward group. In-hospital mortality for patients spending the night in the ED the ED group was 10.7% and 9.5% for patients transferred to a ward bed before midnight the ward group (adjusted OR: 1.12, 95%CI: 0.80-1.58). Sensitivity analyses rendered similar results (ORs ranged 1.06-1.13). Interaction was only detected for academic/non-academic hospitals (p < 0.001), with increased mortality risk for the latter (1.01, 0.33-3.09 vs 2.86, 1.30-6.28). There were no differences in prolonged hospitalization (> 7 days), with adjusted OR of 1.16 (0.94-1.43) and 1.15 (0.94-1.42) depending on whether time spent in the ED was or was not taken into consideration. No increased risk of in-hospital mortality or prolonged hospitalization was found in older patients waiting overnight in the ED for admission. Nonetheless, all estimations suggest a potential harmful effect of staying overnight, especially if a proper bedroom and hospitalist ward bed and hospitalized care are not provided.

RhoA downregulation in the murine intestinal epithelium results in chronic Wnt activation and increased tumorigenesis.

Rho GTPases are molecular switches regulating multiple cellular processes. To investigate the role of RhoA in normal intestinal physiology, we used a conditional mouse model overexpressing a dominant negative RhoA mutant (RhoAT19N) in the intestinal epithelium. Although RhoA inhibition did not cause an overt phenotype, increased levels of nuclear ß-catenin were observed in the small intestinal epithelium of RhoAT19N mice, and the overexpression of multiple Wnt target genes revealed a chronic activation of Wnt signaling. Elevated Wnt signaling in RhoAT19N mice and intestinal organoids did not affect the proliferation of intestinal epithelial cells but significantly interfered with their differentiation. Importantly, 17-month-old RhoAT19N mice showed a significant increase in the number of spontaneous intestinal tumors. Altogether, our results indicate that RhoA regulates the differentiation of intestinal epithelial cells and inhibits tumor initiation, likely through the control of Wnt signaling, a key regulator of proliferation and differentiation in the intestine.

NCAPH drives breast cancer progression and identifies a gene signature that predicts luminal a tumour recurrence.

BACKGROUND: Luminal A tumours generally have a favourable prognosis but possess the highest 10-year recurrence risk among breast cancers. Additionally, a quarter of the recurrence cases occur within 5 years post-diagnosis. Identifying such patients is crucial as long-term relapsers could benefit from extended hormone therapy, while early relapsers might require more aggressive treatment. METHODS: We conducted a study to explore non-structural chromosome maintenance condensin I complex subunit H's (NCAPH) role in luminal A breast cancer pathogenesis, both in vitro and in vivo, aiming to identify an intratumoural gene expression signature, with a focus on elevated NCAPH levels, as a potential marker for unfavourable progression. Our analysis included transgenic mouse models overexpressing NCAPH and a genetically diverse mouse cohort generated by backcrossing. A least absolute shrinkage and selection operator (LASSO) multivariate regression analysis was performed on transcripts associated with elevated intratumoural NCAPH levels. RESULTS: We found that NCAPH contributes to adverse luminal A breast cancer progression. The intratumoural gene expression signature associated with elevated NCAPH levels emerged as a potential risk identifier. Transgenic mice overexpressing NCAPH developed breast tumours with extended latency, and in Mouse Mammary Tumor Virus (MMTV)-NCAPHErbB2 double-transgenic mice, luminal tumours showed increased aggressiveness. High intratumoural Ncaph levels correlated with worse breast cancer outcome and subpar chemotherapy response. A 10-gene risk score, termed Gene Signature for Luminal A 10 (GSLA10), was derived from the LASSO analysis, correlating with adverse luminal A breast cancer progression. CONCLUSIONS: The GSLA10 signature outperformed the Oncotype DX signature in discerning tumours with unfavourable outcomes, previously categorised as luminal A by Prediction Analysis of Microarray 50 (PAM50) across three independent human cohorts. This new signature holds promise for identifying luminal A tumour patients with adverse prognosis, aiding in the development of personalised treatment strategies to significantly improve patient outcomes.

Sign Language Dataset for Automatic Motion Generation.

Several sign language datasets are available in the literature. Most of them are designed for sign language recognition and translation. This paper presents a new sign language dataset for automatic motion generation. This dataset includes phonemes for each sign (specified in HamNoSys, a transcription system developed at the University of Hamburg, Hamburg, Germany) and the corresponding motion information. The motion information includes sign videos and the sequence of extracted landmarks associated with relevant points of the skeleton (including face, arms, hands, and fingers). The dataset includes signs from three different subjects in three different positions, performing 754 signs including the entire alphabet, numbers from 0 to 100, numbers for hour specification, months, and weekdays, and the most frequent signs used in Spanish Sign Language (LSE). In total, there are 6786 videos and their corresponding phonemes (HamNoSys annotations). From each video, a sequence of landmarks was extracted using MediaPipe. The dataset allows training an automatic system for motion generation from sign language phonemes. This paper also presents preliminary results in motion generation from sign phonemes obtaining a Dynamic Time Warping distance per frame of 0.37.

Estudio exploratorio de eficacia de ivermectina combinada a α- PD-1 en cáncer colorrectal resistente a quimioinmunoterapia / EXPLORATORY EFFECTIVENESS STUDY OF IVERMECTIN COMBINED WITH α-PD-1 IN CHEMOTHERAPY RESISTANT COLORRECTAL CANCER

[RESUMEN]. Las terapias inmunológicas con inhibidores de checkpoints (ICIs) han revolucionado el abordaje del cáncer colorrectal (CCR), pero su efectividad se restringe a tumores inmunorreactivos con deficiencia en la reparación de errores tipo mismatch (dMMR). La ivermectina (IVM), un agente antiparasitario, se propone como posible estrategia terapéutica debido a su impacto en la muerte celular inmunogénica (MCI) y la reversión de resistencia a medicamentos. La investigación evaluó el efecto antineoplásico de IVM combinado con α-PD-1 empleando el modelo murino CT-26, una línea de CCR KRAS-mutada y competentes para MMR. El análisis bioinformático mediante la plataforma GEPIA2 empleandola base TCGA confirmó la expresión diferencial de blancos moleculares de IVM en tejido tumoral versus normal, siendo más alta en tumores con inestabilidad microsatelital baja (MSI-L)/microsatelital estable (MSS) que en inestabilidad microsatelital alta (MSI-H). En experimentos in vitro, CT-26 mostró alta sensibilidad a IVM (IC50: 11 µM, luego de exposición por 72 horas), alterando el metabolismo y aumentando la secreción de IL-6. El análisis proteómico identificó 17 proteínas sobreexpresadas y 8 inhibidas, relacionadas con evasión inmunológica y proliferación celular. En ratones BALB/c portadores de tumores CT-26, la terapia combinada de IVM y α-PD-1 redujo significativamente el crecimiento tumoral y la progresión metastásica. La preinmunización con células CT-26 tratadas con IVM disminuyó la incidencia y la progresión tumoral. IVM podría potenciar la respuesta a ICIs en tumores "fríos". Estos hallazgos sugieren que la combinación de IVM y α-PD-1 puede mejorar la inmunorreactividad y respuesta terapéutica en CCR.

[ABSTRACT]. Matrix Assisted Laser DesorptionIonization ­ Time of Flight ­ MassSpectrometry (MALDI-TOF-MS) has emerged as anoutstandingtechnique in thefieldofclinicalmicrobiology, with a simple methodology and deliveryof precise results in anexceptionally short timeframe. Thistechnology has garnered notable success in recentyears, establishing as a fundamental toolboth in thecharacterizationofmicroorganisms and translationalresearch.Thecombinationoftheinherentfeaturesofthistechniquewiththepotentialof machine learninganalysis has provento be ofgreatvalue in clinicalmicrobiology, particularly in theantibioticresistancefield. Itsapplication has acceleratedbacterial diagnosis and opened new perspectives in criticalareasof medicine, such sepsis and oncology. In Argentina, several research groups actively contributing to its expansión, applying MALDI-TOF-MS in the fight against infectious diseases, including the COVID-19 pandemic. Theseeffortspromiseto continue drivingresearch and clinical diagnosis in the country and worldwide.

Modelo de prácticas clínicas simuladas participativas como piedra angular de la planificación docente en enfermería / A Model of Participatory Simulated Clinical Practices as a Cornerstone in Nursing Teaching Planning

Introducción: La planificación docente en enfermería debe considerar la simulación clínica como una parte fundamental, proponiendo programas docentes de simulación que permitan la adquisición de competencias en el marco de determinadas áreas de la disciplina enfermera. Ese enfoque debe ir encaminado a comprobar que la forma de planificar el contenido y la ejecución de las prácticas simuladas tiene que lograr la implicación del alumnado, mediante una mayor participación y retroalimentación. Objetivo: Evaluar si prácticas más participativas y motivadoras suponen un mejor rendimiento en el aprendizaje del alumnado frente a modelos docentes más clásicos con menor participación. Métodos: Estudio transversal descriptivo con una muestra final de 110 individuos, desarrollado en la Facultad de Enfermería de Valladolid entre septiembre 2016 y marzo 2018, en el que se evaluaron las competencias adquiridas a través de un cuestionario acerca de un supuesto práctico clínico tras efectuar un modelo de prácticas participativo frente a otro menos participativo. Significación estadística obtenida por t -student. Resultados: La evaluación de las prácticas clínicas simuladas más participativas se puntúa por los participantes con un valor promedio de 8,2 puntos sobre 10. Sin embargo, la metodología clásica de clase teórico-práctica, con una menor participación activa, recibe un valor de 6,1 (sobre 10). Conclusión: El modelo de prácticas simuladas más participativo produce un mayor aprendizaje en el alumnado, pero sobre todo, pone en evidencia que las prácticas simuladas más participativas suponen un modelo docente adecuado para la consecución de las competencias formativas(AU)

Introduction: Nursing teaching planning should consider clinical simulation as a fundamental part, proposing simulation-teaching programs that allow acquisition of competences within certain areas of the nursing discipline. Such approach should be aimed at verifying that the way to plan the content and the execution of the simulated practices are to guarantee student involvement, by means of better participation and feedback. Objective: To assess whether more participatory and motivational practices mean better student learning performance compared to more classic teaching models with less participation. Methods: Descriptive and cross-sectional study with a final sample of 110 individuals, carried out at the Nursing School of Valladolid, between September 2016 and March 2018, in which the competences acquired were evaluated through a questionnaire about a supposed clinical practical test after conducting a participatory practice model versus a less participatory one. Statistical significance was obtained by t-student. Results: The evaluation of the most participatory simulated clinical practices is scored by the participants with an average value of 8.2 out of 10. However, the classical methodology of theoretical-practical lesson, with a lower active participation, receives a value of 6.1 (out of 10). Conclusion: The most participatory simulated practice model produces greater learning in students, but, above all, it shows that the most participatory simulated practices represent an adequate teaching model for achieving training competences(AU)

Atención psicológica y Tecnologías: oportunidades y conflictos / Psychological care and Technologies: opportunities and conflicts

Los desarrollos tecnológicos pueden ser un complemento a la atención tradicional, por ello primero se revisa el impacto que tiene la tecnología en la alianza de trabajo terapéutico. A continuación se señalan algunos recursos tecnológicos disponibles para la actividad psicológica, así como una clasificación de las tecnologías. Finalmente se revisan las posibles ventajas y riesgos en la aplicación de tratamiento mediados por tecnologías, así como los resultados en cuanto a efectividad.

Every time new applications of information and communication technologies (ICTs) are developed for psychological care. This article aims to favor the implementation of technological applications in daily practice. To do so, some advantages of the use of technologies are pointed out and the impact of technology on the alliance of therapeutic work is reviewed. Secondly, some technological resources available for psychological work are pointed out, as well a classification of such technologies. This is followed by a review of the possible risks of the application of treatments mediated by technologies. Finally, the results in terms of effectiveness are indicated. All in all, the conclusion is that ICTs are tools whose effectiveness has been proven and they can be a complement to traditional care.

Approach and treatment of suicidal behavior in the clinical practice of different groups of health professionals in Spain: results of the project euregena / Modelos de intervenção comportamento suicida pelos profissionais de saúde diferentes em Espanha: projeto resulta euregenas / Modelos de intervención en la conducta suicida según diferentes profesionales sanitarios en España: resultados del proyecto euregenas

According to the WHO (World Health Organization) and the European Union, suicide is considered to be a health problem of prime importance and to be one of the principal causes of unnatural death. In Spain, the number of suicides has increased 12% since 2005 . The Research Project “European Regions Enforcing Actions against Suicide (EUREGENAS), funded by the Health Program 2008-2013, has as main objective the description of an integrated model of Mental Health orientated to the prevention of suicide. The differences that allow distinguishing the meaning of prevention in suicide behavior are described and explained through a qualitative methodological strategy and through the creation of discussion groups formed by different groups of health professionals. The results highlight the existing differences between the diverse health professionals who come more in contact with this problem and it shows as well the coincidence of meaning that suicide has to be considered as a priority in the field of health.

De acordo com a OMS e a União Europeia o suicídio é considerado um problema de primeira ordem e uma das principais causas de morte não natural. Em Espanha, a taxa aumentou 12% desde 2005 (INE, 20014). O projeto de investigação Regiões Europeias Promovendo Acções contra o Suicídio (EUREGENAS), financiado pelo Programa de Saúde 2007-2013, tem como objetivo principal promover um modelo integrado de saúde mental para prevenir o suicídio. Através de uma estratégia metodológica qualitativa e do desenvolvimento de grupos de discusão com diferentes profissionais de saúde, são descritas e interpretadas as diferenças que permitem identificar como discriminar o significado da prevenção de comportamentos suicidas. Os resultados evidenciam as diferenças entre os pontos de vista e práticas dos diferentes profissionais da saúde relacionados com este problema, e a ideia reconhecida em considerar o suicídio como uma prioridade no campo da saúde.

Según la OMS y la Unión Europea, consideran el suicidio un problema de primer orden y una de las principales causas de muerte no natural. En España, la tasa ha aumentado un 12% desde 2005(1). El Proyecto de Investigación Euroepan Regions Enforcing Actions against Suicide (EUREGENAS) financiado por Health Progam 2008-2013, tiene como principal objetivo describir un modelo integrado de Salud Mental orientado a la prevención de suicidio. A través de una estrategia metodológica cualitativa y mediante la elaboración de grupos de discusión con distintos colectivos profesionales de la salud se describen e interpretan las diferencias que permiten discriminar el significado de la prevención de conductas suicidas. Los resultados ponen en evidencia las diferencias existentes entre los diferentes profesionales de la salud más relacionados con este problema y la coincidencia en considerar el suicidio como una prioridad en el ámbito de la salud.

Tumor de Vanek o pólipo fibroide inflamatorio. Reporte de un caso / Vanek's tumor or inflammatory fibroid polyp. Report of a case

El tumor de Vanek o pólipo fibroide inflamatorio, se conoce como una lesión benigna, rara, de localización submucosa, no encapsulada, cuya ubicación puede darse a lo largo del tracto digestivo, siendo más común en el antro gástrico (80 %), aunque también se ha descrito en la unión gastroesofágica, duodeno, yeyuno, íleon y colon. Representa el tumor gástrico benigno menos frecuente (1-4 %), con ligero predominio en el sexo masculino y un pico de incidencia a partir de la sexta década de la vida, siendo la malignización un evento excepcional. En este reporte de caso se presentó un paciente masculino de 47 años de edad, con tumor de Vanek de localización antra, diagnosticado en el Hospital Provincial Universitario Arnaldo Milián Castro, de la ciudad de Santa Clara.

The Vanek's tumor or inflammatory fibroid polyp (IFP) is a rare benign lesion of submucosal location, not encapsulated, that may be located throughout the digestive tract, being more common in the gastric antrum (80%), although it has also been described in the gastroesophageal junction, duodenum, jejunum, ileum and colon. It is the less frequent benign gastric tumor (1-4%) with slight predominance in males and a peak incidence after the sixth decade of life, being its process of getting malignant an exceptional event. This case report presents a 47-year-old male patient with a Vanek's tumor of antral localization that was diagnosed at the Teaching Provincial Hospital Arnaldo Milian Castro, of Santa Clara.

Diagnostico de hipobetalipoproteinemia en un nino de 8 años? / Diagnosis of hypobetalipoproteinemia in an 8-year-old child? / Diagnostico hipobetalipoproteinemia numa crianca de 8 anos?

La hipobetalipoproteinemia familiar es un trastorno hereditario autosomico dominante que afecta a las lipoproteinas que contienen Apo B, una proteina indispensable para el transporte de los quilomicrones en el intestino y que ademas participa en la sintesis y transporte de las VLDL en el higado. La concentracion de Apo B se usa junto con otras pruebas lipidicas para establecer el riesgo individual de un paciente de desarrollar enfermedad cardiovascular. Presentacion del caso: Paciente de 8 anos, varon, que acude a la consulta de Pediatria del Hospital Universitario Virgen Macarena de Sevilla con sintomas de dolor abdominal, deposiciones blandas y diarreicas, sobrepeso y unas quebradizas. El paciente fue derivado al laboratorio para su estudio con sospecha de hipobetalipoproteinemia. Se le solicito un hemograma, frotis sanguineo, pruebas de coagulacion, bioquimica general y estudio de riesgo vascular. Los datos del estudio bioquimico descartaron la celiaquia (IgA 174 mg/dL [100- 400 mg/dL] y antitransglutaminasa 5 U/mL [< 20]). Las determinaciones incluidas en el perfil de riesgo cardiovascular (RCV) fueron: colesterol total 83 mg/dL (45 mg/dL), c-LDL 32 mg/dL (< 160 mg/dL), colesterol no HDL 35 mg/dL, c-VLDL 3 mg/dL (< 40 mg/dL), trigliceridos 28 mg/dL, Apo-A1 112 mg/dL (119-240 mg/dL), Apo B-100 25 mg/dL (40-125 mg/dL), us-PCR 1,47 mg/dL (< 3 mg/dL), Lp (a) 2 mg/dL (< 30 mg/ dL), homocisteina 5,8 µmol/L (< 15 µmol/L), vitamina A 42 µg/dL (50-200 µg/ dL), vitamina E 1051 µg/dL (50-180 µg/dL) y 25-(OH) D 48,9 ng/mL (30-54 ng/mL) en intervalos de normalidad. El HLA-27 fue negativo. Tras encontrar hallazgos bioquimicos de bajas concentraciones de lipoproteinas con Apo B, se le solicito al paciente una prueba de saliva para realizacion de estudio genetico de LipochipR para mutaciones en el gen de Apo B y PCSK9. Se concluye que el paciente presento una disminucion de la concentracion de las lipoproteinas que contienen Apo B y trigliceridos. La sintomatologia de dolor abdominal y heces pastosas apoyaron el diagnostico clinico. La inexistencia de deficit vitaminico, retraso mental, acantocitosis y demas sintomatologia asociada, hizo pensar en una herencia heterocigota, que con las herramientas disponibles no se pudo describir geneticamente ya que LipochipR no detecta positividad para este paciente para una mutacion de cambio de aminoacidos en el gen y exon de Apo 26, PCSK9-7, PCSK9-4, PCSK9-10.

Familial hypobetalipoproteinemia is a dominant autosomal inherited disorder that affects lipoproteins containing Apo B. It is an essential protein for the transport of chylomicrons in the intestine and it is involved in the synthesis and transport of VLDL in the liver. This concentration is used along with other lipid tests to establish a patient's individual risk of developing cardiovascular disease. This is the case of an 8 year-old male patient who presented at the University Hospital Virgen Macarena in Seville with symptoms of abdominal pain, loose stools and diarrhea, overweight and broken nails. The patient was referred to the laboratory for examination with suspected hypobetalipoproteinemia. He was requested a complete blood count, blood smear, coagulation, biochemistry and vascular risk study. Biochemical data discarded celiac disease (IgA 174 mg/dL [100-400 mg/dL] y antitransglutaminase antibody 5 U/mL [< 20]). Determinations were RCV's profile: Total cholesterol 83 mg/dL (45 mg/dL), c-LDL 32 mg/dL (< 160 mg/dL), non-HDL cholesterol 35 mg/dL, c-VLDL 3 mg/dL (< 40 mg/dL), triglycerides 28 mg/dL, Apo-A1 112 mg/dL (119-240 mg/dL), Apo B-100 25 mg/dL (40-125 mg/dL), us-PCR 1,47 mg/dL (< 3 mg/dL), Lp (a) 2 mg/dL (< 30 mg/dL), Homocysteine 5,8 µmol/L (< 15 µmol/L), Vitamin A 42 µg/dL (50-200 µg/dL), Vitamine E 1051 µg/dL (50-180 µg/dL) and 25-(OH) D 48,9 ng/mL (30-54 ng/mL) in normal ranges. HLA-27 Negative. After biochemical findings of low concentrations of lipoproteins with Apo B100, the patient was requested a saliva test for genetic study conducting LipochipR for mutations of Apo B and PCSK9. It can be concluded that the patient had a decreased concentration of lipoproteins containing Apo-B and triglycerides. The symptoms of abdominal pain and tarry stools supported the clinical diagnosis. The lack of vitamin deficiency, mental retardation, acanthocytosis and other associated sintomatology, made it possible to consider it an heterozygous inheritance. which could not be genetically described with the tools available since LipochipR does not detect in this patient positivity for a mutation to the amino acid change in the gene and exon 26 of Apo, Apo 26, PCSK9-7, PCSK9- 4, PCSK9-10.

Hypobetalipoproteinemia familiar e um disturbio autossomico hereditario dominante que afeta as lipoproteinas contendo Apo--B, uma proteina essencial para o transporte de quilomicrons no intestino e esta envolvido na sintese e transporte de VLDL no figado. A concentracao de Apo-B e utilizada, juntamente com outros testes lipidicos, para estabelecer o risco individual de um paciente de desenvolver doencas cardiovasculares. O caso e o de um paciente de 8 anos, do sexo masculino, que se apresenta para consulta de Pediatria do Hospital Universitario Virgen Macarena, em Sevilha, com sintomas de dor abdominal, fezes brandas e diarreia, sobrepeso e unhas quebradicas. O paciente foi derivado ao laboratorio para exame com suspeita de hypobetalipoproteinemia. Foi pedido um hemograma completo, esfregaco de sangue, coagulacao, bioquimica geral e estudo de risco vascular. Os dados do estudo bioquimico descartaram a doenca celiaca (IgA 174 mg/dL [100-400 mg/dL] e Antitrasglutaminase 5 U/mL [<20]). As determinacoes incluidas no perfil de risco cardiovascular (RCV) foram colesterol total 83 mg/dL (45 mg/dL), LDL-C 32 mg/ dL (<160 mg/dL), colesterol nao-HDL de 35 mg/dL, VLDL-C 3 mg/dL (<40 mg/dL), triglicerideos de 28 mg/dL, Apo-A1 112 mg/ dL (119-240 mg/dL), Apo B-100-25 mg/dL (40-125 mg/dL), us-PCR 1,47 mg/dL (<3 mg/dL) de Lp (a) 2 mg/dL (<30 mg/dL), homocisteina de 5,8 µmol/L (<15 µmol/L), a vitamina A 42 µg/dL (50-200 µg/dL), vitamina E 1051 µg/dL (50-180 µg/dL) e 25- (OH) D 48,9 ng/mL (30-54 ng/mL) em intervalos de normalidade. O HLA-27 foi negativo. Depois de encontrar achados bioquimicos de baixas concentracoes de lipoproteinas com apo-B, foi solicitado ao paciente um teste de saliva para estudo genetico de LipochipR para mutacoes no gene de Apo-B e PCSK9. Conclui-se que o paciente apresentou uma diminuicao na concentracao das lipoproteinas contendo Apo-B e triglicerideos. Os sintomas de dor abdominal e fezes pastosas apoiaram o diagnostico clinico. A inexistencia de deficit vitaminico, retardo mental, acantocitose e outros sintomas associados fez pensar numa heranca heterozigotica, que com as ferramentas disponiveis nao se pode descrever geneticamente ja que LipochipR nao detecta positividade para este paciente para uma mutacao de mudanca de aminoacidos no gene e exon de Apo 26, PCSK9-7, PCSK9- 4, PCSK9-10.

Días de Radio. el esfuerzo hacia la recuperación: la radio como integración / Radio Days. the effort to recovery: the radio as integration

Desde el Centro de Rehabilitación Psicosocial ("CRPS") Los Cármenes (inscrito dentro de la Red Pública de Atención Social para Personas con Enfermedad Mental Grave y Duradera, dependiente de la Consejería de Familia y Asuntos Sociales de la Comunidad de Madrid (www.comunidad.org); gestionado por Instituto de Trabajo Social y Servicios Sociales (INTRESS), se desarrolla desde el 2004 un proyecto que consiste en la realización del programa de radio comunitaria "Ábrete Camino". La metodología, basada en los valores clave de la recuperación, permite que los/as participantes sean cada vez más protagonistas, tanto en el programa como en sus vidas. Ellos/as mismos/as nos cuentan su experiencia a través de un debate en directo en una de sus emisiones. Valoran la experiencia como muy positiva, siendo una actividad significativa en su proyecto vital.

From the Center for Psychosocial Rehabilitation ("CRPS") Los Cármenes (registered in the Public Network of Social Care for People with Severe and Enduring Mental Illness, under the Ministry of Family and Social Affairs of the Community of Madrid, operated by Intress ), developed since 2004 a project that consists in making community radio program " Ábrete Camino". The methodology, based on the core values of the recovery, allowing the participants to be increasingly more players in both the program and in their lives. They have experience through a live debate in one of their broadcasts.

Emergencia obstétrica en paciente acondroplásica / Obstetric emergency in an achondroplastic patient

Presentamos el caso de una paciente acondroplásica de 37 semanas de gestación a la cual el servicio de Obstetricia de nuestro hospital le realiza cesárea urgente debido a sufrimiento fetal agudo. Se discute el manejo anestésico adecuado para este tipo de pacientes en general, y el planteamiento realizado en nuestro caso en particular. Evaluando las complicaciones que se pueden presentar en estas situaciones, se considera que la propuesta de cesárea electiva es más adecuada que la realización de una intervención urgente. Por ello, debe existir una comunicación fluída entre los servicios de Obstetricia y Anestesiología a fin de prevenir cualquier situación de urgencia y optimizar los cuidados anestesiológicos en estas pacientes.