Spanish validation of the short version of the racing and crowded thoughts questionnaire (RCTQ-13).

BACKGROUND: The Racing and Crowded Thoughts Questionnaire (RCTQ-13) is the most widely used specific scale for the measurement of racing thoughts, but there is currently no Spanish version that allow the evaluation in Spanish-speaking patients. The objective of this study is to translate, adapt, and validate the RCTQ-13 in a Colombian population with affective disorders. METHODS: The questionnaire was translated and back-translated, and corrections were implemented following a pilot test to improve comprehensibility. We included patients with Bipolar I Disorder and with Major depressive disorder seen in three centers in the city of Medellín, Colombia. We evaluate structural validity with confirmatory factor analysis, internal consistency, and test-retest reliability. Construct validity was also assessed with the comparison between euthymic, maniac, and depressive episodes and the correlation with worry, rumination, and mania scales. Responsiveness was measured 1 month after the first evaluation. Based on item response theory (IRT), we also estimated item difficulty, discrimination, and fit using a generalized partial credit model. RESULTS: Two hundred fifty subjects were included. Confirmatory factor analysis revealed that the three-factor structure of the scale was appropriate. Internal consistency was adequate for the entire scale (Cronbach's alpha = 0.95, 95% CI: 0.94-0.96) and for each factor. Test-retest reliability was good (intraclass correlation coefficient = 0.82, 95%IC: 0.70-0.88). For construct validity, we observed differences between patients with different types of affective episodes, a moderate positive correlation with the Penn State Worry Scale (r = 0.55) and the Ruminative Response Scale (r = 0.42), and a low negative correlation with the Young Mania Rating Scale (r = - 0.10). Responsiveness was proved to be adequate. Under IRT, the response thresholds for the response options are organized for all items. The infit was adequate for all items and the outfit was acceptable. CONCLUSIONS: The Spanish version of the RCTQ-13 is a reliable, valid, and responsive scale and can be used for the clinical assessment of the construct of racing and crowded thoughts in patients with the spectrum of affective disorders in whom this experience can be expressed with different nuances. Further research is needed to expand the relationship with rumination and worry.

Modeling, fabrication, and metrology of 3D printed Alvarez lenses prototypes.

In this work, we present the fabrication of two 3D printed plano-freeform prototypes, designed in such a way that, when assembled, an Alvarez lens is formed. The freeform surface of each element was mathematically described using Zernike polynomials and verified by implementing an off-axis null-screen test. Additionally, a characterization by refraction of the assembled lens was performed. Experimental images show the suitability of additive manufacturing engineering for prototyping freeform optics by providing a practical demonstration of the Alvarez lens concept.

Complete mitochondrial DNA profile in stroke: A geographical matched case-control study in Spanish population.

INTRODUCTION: Stroke, the second leading cause of death worldwide, is a complex disease influenced by many risk factors among which we can find reactive oxygen species (ROS). Since mitochondria are the main producers of cellular ROS, nowadays studies are trying to elucidate the role of these organelles and its DNA (mtDNA) variation in stroke risk. The aim of the present study was to perform a comprehensive evaluation of the association between mtDNA mutations and mtDNA content and stroke risk. MATERIAL AND METHODS: Homoplasmic and heteroplasmic mutations of the mtDNA were analysed in a case-controls study using 110 S cases and their corresponding control individuals. Mitochondrial DNA copy number (mtDNA-CN) was analysed in 73 of those case-control pairs. RESULTS: Our results suggest that haplogroup V, specifically variants m.72C > T, m.4580G > A, m.15904C > T and m.16298 T > C have a protective role in relation to stroke risk. On the contrary, variants m.73A > G, m.11719G > A and m.14766C > T appear to be genetic risk factors for stroke. In this study, we found no statistically significant association between stroke risk and mitochondrial DNA copy number. CONCLUSIONS: These results demonstrate the possible role of mtDNA genetics on the pathogenesis of stroke, probably through alterations in mitochondrial ROS production.

Mutation in Chek2 triggers von Hippel-Lindau hemangioblastoma growth.

PURPOSE: Von Hippel-Lindau (VHL) is a rare inherited disease mainly characterized by the growth of tumours, predominantly hemangioblastomas (Hbs) in the CNS and retina, and renal carcinomas. The natural history of VHL disease is variable, differing in the age of onset and its penetrance, even among relatives. Unfortunately, sometimes VHL shows more severe than average: the onset starts in adolescence, and surgeries are required almost every year. In these cases, the factor that triggers the appearance and growth of Hbs usually remains unknown, although additional mutations are suspected. METHODS: We present the case of a VHL patient whose first surgery was at 13 years of age. Then, along his next 8 years, he has undergone 5 surgeries for resection of 10 CNS Hbs. To clarify this severe VHL condition, DNA from a CNS Hb and white blood cells (WBC) was sequenced using next-generation sequencing technology. RESULTS: Massive DNA sequencing of the WBC (germ line) revealed a pathogenic mutation in CHEK2 and the complete loss of a VHL allele (both tumour suppressors). Moreover, in the tumour sample, several mutations, in BRAF1 and PTPN11 were found. Familiar segregation studies showed that CHEK2 mutation was in the maternal lineage, while VHL was inherited by paternal lineage. CONCLUSIONS: Finally, clinical history correlated to the different genotypes in the family, concluding that the severity of these VHL manifestations are due to both, VHL-and-CHEK2 mutations. This case report aims to notice the importance of deeper genetic analyses, in inherited rare diseases, to uncover non-expected mutations.

Prognostic predictive model for PONV in cesarean delivery

Introduction: Apfel simplified risk score for postoperative nausea and vomiting (PONV) has shown to be useful in anesthesia; however, since it has not been calibrated in regional anesthesia or in pregnant patients, its use in cesarean section is limited. Objective: To develop a prognostic predictive model for postoperative nausea and vomiting in pregnant patients undergoing cesarean section under spinal anesthesia. Methods: In a cohort of 703 term pregnant patients scheduled of cesarean section, 15 variables were prospectively assessed, to design a prognostic predictive model for the development of postoperative nausea and vomiting. A logistic regression analysis was used to construct the model and its calibration and discrimination were based on the Hosmer-Lemeshow test, the calibration curves, and C statistic. Additionally, the internal calibration was performed with the Bootstrap resampling method. Results: Postoperative nausea and vomiting were experienced by 27% of the patients during the first six hours after surgery. The model included as prognostic variables the development of intraoperative nausea and vomiting, age under 28 years, a history of PONV, the mother's BMI and the weight of the newborn baby. The model showed an adequate calibration (x2: 4.65 p: 0.5888), though a low discrimination (Statistic C = 0.68). Conclusions: A prognostic predictive model was created for the development of PONV in cesarean section. This model was used to build a prognostic scale for the classification of patients into risk groups.

Introducción: La escala de riesgo simplificada de Apfel para náuseas y vómito posoperatorio (NVPO) ha mostrado utilidad en anestesia; sin embargo, al no haber sido calibrada en anestesia regional o en pacientes embarazadas, su utilidad en cesárea es limitado. Objetivo: Desarrollar un modelo de predicción pronóstica para náuseas y vómito posoperatorios en pacientes embarazadas, llevadas a cesárea bajo anestesia espinal. Métodos: En una cohorte de 703 pacientes con embarazo a término programadas para cesárea, se evaluaron 15 variables de forma prospectiva para construir un modelo de predicción pronóstica para el desarrollo de náuseas y vómito posoperatorio. Se utilizó el análisis de regresión logística para la construcción del modelo y se calculó su calibración y discriminación con la prueba de Hosmer-Lemeshow, las curvas de calibración y el estadístico C. Además, se realizó la calibración interna con el método de remuestreo Bootstrap. Resultados: Las náuseas y vómito posoperatorio se presentaron en el 27% de las pacientes durante las primeras seis horas después de la cirugía. El modelo incluyó como variables pro-nósticas el desarrollo de náuseas y vómito en el intraoperatorio, edad menor de 28 años, antecedentes de NVPO, índice de masa corporal (IMC) de la madre y el peso del recién nacido. El modelo mostró una adecuada calibración (x2: 4,65 p: 0,5888), aunque una baja discriminación (Estadístico C = 0,68). Conclusiones: Se construyó un modelo de predicción pronóstica para el desarrollo de NVPO en cirugía cesárea, y con este se construyó una escala pronóstica que permite clasificar a las pacientes por grupos de riesgo.

Mitochondrial DNA control region typing from highly degraded skeletal remains by single-multiplex next-generation sequencing.

Poor nuclear DNA preservation from highly degraded skeletal remains is the most limiting factor for the genetic identification of individuals. Mitochondrial DNA (mtDNA) typing, and especially of the control region (CR), using next-generation sequencing (NGS), enables retrieval of valuable genetic information in forensic contexts where highly degraded human skeletal remains are the only source of genetic material. Currently, NGS commercial kits can type all mtDNA-CR in fewer steps than the conventional Sanger technique. The PowerSeq CRM Nested System kit (Promega Corporation) employs a nested multiplex-polymerase chain reaction (PCR) strategy to amplify and index all mtDNA-CR in a single reaction. Our study analyzes the success of mtDNA-CR typing of highly degraded human skeletons using the PowerSeq CRM Nested System kit. We used samples from 41 individuals from different time periods to test three protocols (M1, M2, and M3) based on modifications of PCR conditions. To analyze the detected variants, two bioinformatic procedures were compared: an in-house pipeline and the GeneMarker HTS software. The results showed that many samples were not analyzed when the standard protocol (M1) was used. In contrast, the M3 protocol, which includes 35 PCR cycles and longer denaturation and extension steps, successfully recovered the mtDNA-CR from highly degraded skeletal samples. Mixed base profiles and the percentage of damaged reads were both indicators of possible contamination and can provide better results if used together. Furthermore, our freely available in-house pipeline can provide variants concordant with the forensic software.

Fabrication of biconvex spherical and aspherical lenses using 3D printing.

In this work, we present the methods of fabrication and characterization of biconvex spherical and aspherical lenses with 25 and 50 mm diameters that have been created via additive technology using a Formlabs Form 3 stereolithography 3D printer. After the prototypes are postprocessed, fabrication errors ≤2.47% for the radius of curvature, the optical power, and the focal length are obtained. We show eye fundus images captured with an indirect ophthalmoscope using the printed biconvex aspherical prototypes, proving the functionality of both the fabricated lenses and the proposed method, which is fast and low-cost.

Avances y desafíos de la protección radiológica en cardiología intervencionista pediátrica para Chile entre los años 2013-2021 / Updating radiological protection for interventional procedures in pediatric cardiology in Chile

RESUMEN: En el año 2013, se publicó un artículo acerca de lo realizado en Chile en temas de protección radiológica en cardiología intervencionista (CI) pediátrica. A continuación se muestra el trabajo de continuidad realizado en los últimos 8 años, destacando los principales resultados alcanzados y proponiendo mejoras en la seguridad y protección radiológica en esta práctica clínica. Desde el año 2013 se han seguido evaluando en términos de dosis de radiación y calidad de imagen, los sistemas de rayos X utilizados en Chile para procedimientos de CI pediátricos y, en particular, los equipos de los servicios de los Hospitales Luis Calvo Mackenna y Roberto del Rio. Se han medido las tasas de dosis de radiación dispersa a la posición habitual de los ojos y tobillos de los cardiólogos que operan los equipos de rayos X. También contamos con un conjunto de "Niveles de Referencia para Diagnóstico" clasificados por rangos de edad y peso, junto con la estimación de valores de dosis por órgano y dosis efectiva para los pacientes. Podemos afirmar que, actualmente, contamos con una metodología consolidada para caracterizar, en términos de dosis y calidad de imagen, los sistemas de rayos X. Sin embargo, sigue pendiente actualizar la normativa nacional que regula el uso seguro de las radiaciones ionizantes en medicina, como también aspectos de formación en protección radiológica para el personal médico implicado.

ABSRSCT: An article on the status of radiological protection during procedures of interventional cardiology in pediatric patients in Chile was published in 2013. The present article relates the continuing efforts to improve radiological protection highlighting their results and proposing additional measures to improve radiological protection during the procedure. Since 2013 we have continued the evaluation of radiation doses, image quality, and X Ray systems used in Chile. We have measured diffused radiation dose at operator´s eye and ankle levels to elaborate a "Reference guide" according to patient´s age and weight. However, we still lack a national regulatory norm for the X Ray systems to be used and for the appropriate training of those involved in procedures of interventional cardiology in pediatric patients.

Smartphone-based corneal topography with null-screens.

To measure the shape of the fast corneal surface of the human eye, we propose the design and characterization of a compact corneal topographer using the capabilities of a smartphone. The performance evaluation of the compact corneal topographer includes the calculation and compensation of the distortion introduced by the smartphone lens used to acquire the images and the evaluation of a reference surface. To demonstrate the feasibility of our proposal, we performed surface topography measurements on some human corneas and compared the results with those obtained by a commercial corneal topographer. We showed that the results obtained with our algorithms were consistent with other methods that analyze the corneal surface.

Dinámica de contaminación de pasturas con huevos de nematodos gastrointestinales de bovinos en el Valle de Lerma, Salta / Dynamics of pasture contamination with bovine gastrointestinal nematode eggs in the Lerma Valley, Argentina

Resumen El Valle de Lerma (VDL) es una región ubicada en la parte central de la provincia de Salta, República Argentina, la cual da origen a la mayor parte de la producción láctea provincial. La nematodiasis gastrointestinal es uno de los problemas sanitarios de mayor impacto económico en los sistemas productivos de base pastoril. El objetivo de este trabajo fue caracterizar la variación estacional de la eliminación de huevos y géneros de nematodos al medio ambiente. Mensualmente se tomaron muestras de materia fecal en bovinos de recría para conteo de huevos por gramo (HPG) y coprocultivo para determinación de géneros en tres establecimientos ganaderos de la región. En todos ellos se observaron dos picos en los valores medios de HPG, que ocurrieron entre principios de verano y fines de otoño. Los géneros/especies más prevalentes fueron Cooperia pectinata, Haemonchus spp. y Cooperia punctata, seguidos por Oesophagostomum spp., Trichostrongylus spp. y Ostertagia spp. Estos resultados aportan nueva evidencia al conocimiento de la epidemiología de los nematodos gastrointestinales de los bovinos en la región del VDL.

Abstract The Lerma Valley (LV) is a region located in the central part of the province of Salta, Argentine Republic. The largest dairy production in the province originates in this region. Gastrointestinal nematodiasis is one of the health problems with the greatest economic impact in pastoral-based production systems. The objective of the present work was to characterize the seasonal variation of the elimination of eggs and genera of nematodes to the environment. Fecal matter samples were taken from rearing cattle to count eggs per gram (Epg) and culture for gender determination monthly in three farms in the region. In these, it was possible to observe that the Epg values ​​showed two peaks, which occurred between the beginning of summer and the end of autumn. Regarding the genera/species, the most prevalent were Cooperia pectinata, Haemonchus sp. and Cooperia punctata, followed by Oesophagostomum spp., Trichostrongylus spp. and Ostertagia spp. These results contribute with new evidence to the knowledge of the epidemiology of gastrointestinal nematodes of cattle in the LV region.

Biosynthesis of triacsin featuring an N-hydroxytriazene pharmacophore.

Triacsins are an intriguing class of specialized metabolites possessing a conserved N-hydroxytriazene moiety not found in any other known natural products. Triacsins are notable as potent acyl-CoA synthetase inhibitors in lipid metabolism, yet their biosynthesis has remained elusive. Through extensive mutagenesis and biochemical studies, we here report all enzymes required to construct and install the N-hydroxytriazene pharmacophore of triacsins. Two distinct ATP-dependent enzymes were revealed to catalyze the two consecutive N-N bond formation reactions, including a glycine-utilizing, hydrazine-forming enzyme (Tri28) and a nitrite-utilizing, N-nitrosating enzyme (Tri17). This study paves the way for future mechanistic interrogation and biocatalytic application of enzymes for N-N bond formation.

Optimización de la protección en radiología y cardiología intervencionista pediatrica en América Latina y el Caribe (OPRIPALC) / Optimization of protection in pediatric interventional cardiology and radiology in Latin America and the Caribbean (OPRIPALC)

El objetivo del presente artículo ha sido describir el programa "Optimización de la Protección en Radiología Intervencionista Pediátrica en América Latina y el Caribe" (OPRIPALC) que nace el año 2018 como respuesta conjunta de la Organización Panamericana de la Salud y la Organización Mundial de la Salud, en cooperación con el Organismo Internacional de Energía Atómica, para colaborar con sus Estados miembros en asegurar que las exposiciones a la radiación de los pacientes pediátricos sean las mínimas necesarias durante los procedimientos intervencionistas. Actualmente, hay 18 centros de los siguientes 10 países que participan: Argentina, Brasil, Chile, Colombia, Costa Rica, Cuba, Ecuador, México, Perú y Uruguay. Para el desarrollo del programa se plantean una serie de objetivos, productos, actividades y resultados esperados. La puesta en marcha de la WEB de OPRIPALC ha significado un instrumento muy válido para seguir la información actualizada del programa. Un programa actualizado de formación en radioprotección para los profesionales implicados en el programa, se está realizando por medio de "webinars". Se deberá seguir actuando en la aplicación del programa de control de calidad básico para los equipos de rayos X participantes y validar los valores de los Niveles de Referencia para Diagnóstico (NRDs). Se propone formar un equipo de trabajo entre los Físicos Médicos y Tecnólogos Médicos participantes de OPRIPALC para implicarse en las pruebas de control básicas que todos los centros debieran realizar. Se han presentado algunos resultados iniciales de OPRIPALC en eventos científicos internacionales. Se está avanzando en proponer unos primeros valores sobre NRDs en procedimientos de intervencionismo cardiológico pediátrico por bandas de edad y peso. OPRIPALC es una de las pocas iniciativas de carácter regional para obtener valores de NRDs en procedimientos intervencionistas pediátricos. Se espera que tanto los valores de referencia como la metodología empleada en OPRIPALC, puedan ser utilizados en otras regiones del mundo.

The objective of this article has been to describe the program "Optimization of Protection in Pediatric Interventional Radiology in Latin America and the Caribbean" (OPRIPALC) that was born in 2018 as a joint response of the Pan American Health Organization and the World Organization of the Health, in cooperation with the International Atomic Energy Agency, to collaborate with its member states in ensuring that radiation exposures of pediatric patients are the minimum necessary during interventional procedures. Currently, there are 18 centers from the following 10 countries participating: Argentina, Brazil, Chile, Colombia, Costa Rica, Cuba, Ecuador, Mexico, Peru and Uruguay. For the development of the program, a series of objectives, products, activities and expected results are proposed. The launch of the OPRIPALC WEBSITE has been a very valid instrument for following up-to-date information on the program. An updated training program in radiation protection for the professionals involved in the program is being carried out through webinars. It should continue acting in the application of the basic quality control program for the participating X-ray equipment and validate the values of the Diagnostic Reference Levels (DRLs). It is proposed to form a work team among the OPRIPALC participating medical physicists to get involved in the basic control tests that all centers should carry out. Some initial results of OPRIPALC have been presented at international scientific events. Progress is being made in proposing first values on DRLs in pediatric cardiac intervention procedures by age and weight bands. OPRIPALC is one of the few regional initiatives to obtain DRLs values in pediatric interventional procedures. It is expected that both the reference values and the methodology used in OPRIPALC can be used in other regions of the world.

Analysis of Extreme Maternal Morbidity at the Women´s Hospital of Aguascalientes.

Background Extreme maternal morbidity is defined as "events that potentially threaten the life of a pregnant woman during pregnancy, childbirth or the puerperium, but that due to a medical intervention the patient does not die", and this is an indicator of health quality at the hospital and demographic level. Objective The aim of this study was to determine the prevalence of extreme maternal morbidity in the Women´s Hospital of Aguascalientes, Mexico. Material and methods A retrospective cross-sectional study was conducted under the criteria of the World Health Organization and the Latin American Federation of Obstetrics and Gynecology Societies for the definition of extreme maternal morbidity to determine the prevalence of near miss morbidity, between January 1 and December 31, 2016. Results We found 165 cases of extreme maternal morbidity; no maternal death was registered during the study year. The extreme maternal morbidity rate was 0.016 and 16.69 per 1000 live births; the ratio of extreme maternal morbidity cases / obstetric admissions was 11.07. The prevalence of extreme maternal morbidity was 1.6%. The main causes of extreme maternal morbidity were hypertensive disorders (57%), obstetric hemorrhage (29%), sepsis (1%) and other (13%). Conclusion Extreme maternal morbidity in our institution had a similar prevalence to that reported in other countries and was mainly caused by hypertensive disorders.

Null-screen testing of the complementary freeform surfaces of an adjustable focus lens.

A novel null-screen technique to test freeform optical surfaces for ophthalmic use is presented. We present an off-axis experimental setup to evaluate the surface shape of a two-element commercial adaptable focus lens based on the Alvarez principle. The advantages of the method are that it is fast, easy to implement, and reduces costs. This metrology technique is validated by testing both the convex and the concave complementary freeform elements of the spectacle under test. We also apply two methods to recover the surface shape of both elements: numerical integration and a custom probabilistic algorithm. Results are compared with a reference surface finding that for method 1, the RMS value in sagitta differences is 32.6 microns for the convex surface and 26.5 microns for the concave surface. Meanwhile, for method 2, the RMS value in sagitta differences found is 19.8 microns for the convex surface and 16.9 microns for the concave surface. Results show agreement in RMS in sagitta differences for both surfaces in each of the reconstruction methods employed.

Predictive models of infection in patients with systemic lupus erythematosus: A systematic literature review.

INTRODUCTION: Having reliable predictive models of prognosis/the risk of infection in systemic lupus erythematosus (SLE) patients would allow this problem to be addressed on an individual basis to study and implement possible preventive or therapeutic interventions. OBJECTIVE: To identify and analyze all predictive models of prognosis/the risk of infection in patients with SLE that exist in medical literature. METHODS: A structured search in PubMed, Embase, and LILACS databases was carried out until May 9, 2020. In addition, a search for abstracts in the American Congress of Rheumatology (ACR) and European League Against Rheumatism (EULAR) annual meetings' archives published over the past eight years was also conducted. Studies on developing, validating or updating predictive prognostic models carried out in patients with SLE, in which the outcome to be predicted is some type of infection, that were generated in any clinical context and with any time horizon were included. There were no restrictions on language, date, or status of the publication. To carry out the systematic review, the CHARMS (Critical Appraisal and Data Extraction for Systematic Reviews of Prediction Modelling Studies) guideline recommendations were followed. The PROBAST tool (A Tool to Assess the Risk of Bias and Applicability of Prediction Model Studies) was used to assess the risk of bias and the applicability of each model. RESULTS: We identified four models of infection prognosis in patients with SLE. Mostly, there were very few events per candidate predictor. In addition, to construct the models, an initial selection was made based on univariate analyses with no contraction of the estimated coefficients being carried out. This suggests that the proposed models have a high probability of overfitting and being optimistic. CONCLUSIONS: To date, very few prognostic models have been published on the infection of SLE patients. These models are very heterogeneous and are rated as having a high risk of bias and methodological weaknesses. Despite the widespread recognition of the frequency and severity of infections in SLE patients, there is no reliable predictive prognostic model that facilitates the study and implementation of personalized preventive or therapeutic measures.Protocol registration number: PROSPERO CRD42020171638.

Null-screen design for highly freeform surface testing.

A new alternative to calculate the null-screen for highly freeform or complex surfaces for any desired pattern to be observed on the detector is presented. To validate the proposed method, we used the Zernike polynomials to design complex surfaces with sagittas greater or equal to 40 mm, and peak to valley greater or equal to 30 mm, between the used surface and the best fit sphere. The freeform surfaces were fabricated using a 3D printer and a five-axis CNC machine. With the proposed method we can calculate the image that will be observed over the detector for any null-screen and any freeform surface that want to be analyzed. The results showed that the proposal works very well for extremely fast complex freeform surfaces (with slopes ≤ 80°), obtaining an error smaller than 0.66% in PV and 0.36% in rms in sagitta differences.

Programmed Cell Death 2-Like (Pdcd2l) Is Required for Mouse Embryonic Development.

Globozoospermia is a rare form of male infertility where men produce round-headed sperm that are incapable of fertilizing an oocyte naturally. In a previous study where we undertook a whole exome screen to define novel genetic causes of globozoospermia, we identified homozygous mutations in the gene PDCD2L Two brothers carried a p.(Leu225Val) variant predicted to introduce a novel splice donor site, thus presenting PDCD2L as a potential regulator of male fertility. In this study, we generated a Pdcd2l knockout mouse to test its role in male fertility. Contrary to the phenotype predicted from its testis-enriched expression pattern, Pdcd2l null mice died during embryogenesis. Specifically, we identified that Pdcd2l is essential for post-implantation embryonic development. Pdcd2l-/- embryos were resorbed at embryonic days 12.5-17.5 and no knockout pups were born, while adult heterozygous Pdcd2l males had comparable fertility to wildtype males. To specifically investigate the role of PDCD2L in germ cells, we employed Drosophila melanogaster as a model system. Consistent with the mouse data, global knockdown of trus, the fly ortholog of PDCD2L, resulted in lethality in flies at the third instar larval stage. However, germ cell-specific knockdown with two germ cell drivers did not affect male fertility. Collectively, these data suggest that PDCD2L is not essential for male fertility. By contrast, our results demonstrate an evolutionarily conserved role of PDCD2L in development.

Moebius syndrome: Craniofacial clinical manifestations and their association with prenatal exposure to misoprostol.

BACKGROUND: A growing link between prenatal exposure to misoprostol (PEM) and Moebius syndrome (MS) or sequence has been reported. Our objectives were to describe the craniofacial clinical manifestations associated with MS and to determine the frequency of PEM, comparing cases of exposure and nonexposure. METHODS: A descriptive, cross-sectional study of 140 patients with MS. Clinical evaluations, as well as 140 interviews with mothers residing in 39 cities or districts of Colombia, were carried out between April 2008 and May 2018. Additionally, previous clinical history of each case was reviewed. RESULTS: The average age of the patients with MS was 8.4 years (29 days to 48 years). All of them presented facial nerve involvement and abducens, 112 (80.8%) with bilateral facial paralysis. 98.5% presented craniofacial disorders, and there were no significant differences between those exposed and not exposed to misoprostol. Forty-seven percentage of patients (64 cases) presented PEM, in 98.4% of which abortion had been intended. CONCLUSION: PEM could have an influence in the appearance of new cases of MS by increasing the frequency of bleeding during gestation, without increasing the number of associated craniofacial malformations. We present the biggest series on MS and craniofacial findings in the literature, along with a meaningful reference for its understanding. LEVEL OF EVIDENCE: 3b.

Colangitis esclerosante primaria. Una revisión narrativa / Primary Sclerosing Cholangitis. A narrative review

RESUMEN La colangitis esclerosante primaria (CEP) es una patología hepática crónica y rara que se caracteriza por la inflamación y fibrosis de los conductos biliares, cuya evolución puede llevar a la cirrosis, hipertensión portal y enfermedad hepática en etapa terminal. Su etiología es desconocida, pero se ha relacionado con factores genéticos y autoinflamatorios. Además, tiene una relación muy estrecha con la enfermedad inflamatoria intestinal (EII). Su presentación clínica es muy inespecífica, sus principales síntomas son el prurito y la fatiga. La prueba estándar para su diagnóstico es la colangiopancreatografía por resonancia magnética (CPRM), donde se observa un aspecto anular ocasionado por estenosis multifocales cortas con segmentos alternos normales o dilatados. Actualmente, no existe ningún tratamiento farmacológico que logre prolongar la supervivencia sin un trasplante de hígado en la CEP. Sólo se puede hacer tratamiento sintomático, especialmente del prurito. El único manejo curativo con el que se cuenta hoy en día es el trasplante hepático, aunque existe un riesgo de recurrencia de la enfermedad. Es muy importante la vigilancia de los trastornos inflamatorios intestinales, la malignidad y la enfermedad metabólica ósea en estos pacientes. Se ha visto que algunos factores, como el diagnóstico temprano, son de buen pronóstico para la enfermedad.

SUMMARY Primary sclerosing cholangitis (PSC) is a rare, chronic liver pathology characterized by inflammation and fibrosis of the bile ducts, whose evolution can lead to cirrhosis, portal hypertension and end-stage liver disease. Its etiology is unknown, but it has been related to genetic and autoinflammatory factors. In addition, it has a very close relationship with inflammatory bowel disease. Its clinical presentation is nonspecific, the main symptoms are pruritus and fatigue. The standard test for diagnosis is magnetic resonance cholangiopancreatography (MRCP), where an annular aspect is observed caused by short multifocal stenoses with alternating normal or dilated segments. Currently, there is no pharmacological treatment that can prolong the survival without liver transplantation in PSC. Symptomatic treatment is warranted, especially for pruritus. The only curative treatment that is currently available is liver transplantation, although there is a risk of recurrence of the disease. The monitoring of intestinal inflammatory disorders (IID), malignancy and metabolic bone disease in these patients is very important. It has been seen that some factors, such as early diagnosis, are good prognosis for the disease.