Abstract: Purpose: To evaluate the association of epilation before surgery on the surgical outcome in trachomatous trichiasis (TT) patients. Methods: As a secondary data analysis, 1452 patients enrolled in the STAR trial were categorized according to preoperative epilation status. The main outcome was recurrent trichiasis after surgery. We used multivariable analysis, time-to-event analysis, and Cox proportional hazards model. Results: Those who epilated prior to surgery tended to be older and female, with worse entropion at baseline. The proportion with postoperative trichiasis was 7.7%, 8.8% in those who epilated versus 5.3% in those who did not (P ¼ 0.03). Adjusting for age and sex, the risk of postoperative TT with epilation was 1.71 (P value ¼ 0.02). Although entropion may be in the biological pathway from epilation to postoperative TT, we adjusted for entropion, and the risk of postoperative TT with epilation was 1.41 (P ¼ 0.14). Conclusions: The study suggests that preoperative epilation may increase the risk of postoperative trichiasis. Further research is needed to confirm the finding. Translational Relevance: Patients with TT often self-treat, epilating their inturned eyelashes. The World Health Organization recommends surgery to treat TT, but when patients refuse the procedure or mild trichiasis is present, epilation is often recommended. There is some evidence that repetitive or improper epilation can be harmful to the lid and hair follicles. If there is damage to the lid margin, any subsequent surgery could have deleterious outcomes. Resumen: Objetivo: Evaluar la asociación de la depilación antes de la cirugía con el resultado quirúrgico en pacientes con triquiasis tracomatosa (TT). Métodos: Se realizó un análisis secundario de datos, 1452 pacientes del estudio STAR se clasificaron según el estado de depilación preoperatoria. El resultado principal fue la triquiasis recurrente después de cirugía. Utilizamos análisis multivariable, análisis de tiempo transcurrido hasta el evento y modelo de riesgos proporcionales de Cox. Resultados: Aquellos que se depilaron antes de la cirugía tendieron a ser mayores y mujeres, con entropión más severo al inicio del estudio. La proporción con triquiasis postoperatoria fue del 7,7%, 8,8% en los que se depilaron frente al 5,3% en los que no (P = 0,03). Ajustando por edad y sexo, el riesgo de TT postoperatoria con depilación fue de 1,71 (valor de p = 0,02). Aunque el entropión puede estar en la vía biológica desde la depilación hasta el TT posoperatorio, ajustamos el entropión y el riesgo de TT postoperatorio con depilación fue de 1,41 (p = 0,14). Conclusiones: El estudio sugiere que la depilación preoperatoria puede incrementar el riesgo de triquiasis postoperatoria. Se necesita más investigación para confirmar este hallazgo. Relevancia traslacional: los pacientes con TT a menudo se autotratan, depilando sus pestañas dirigidas hacia adentro. La Organización Mundial de la Salud recomienda la cirugía para tratar la TT, pero cuando los pacientes rechazan el procedimiento o hay una triquiasis leve, a menudo se recomienda la depilación. Existe alguna evidencia de que la depilación repetitiva o incorrecta puede ser dañina para el párpado y los folículos pilosos. Si hay daño en el margen del párpado, cualquier cirugía posterior podría tener resultados perjudiciales.

Abstract: Objectives: The objectives of the study were to estimate the prevalence of different clinical signs of trachoma and identify possible factors associated with TF. Methodology: Following the approval of the study protocol by the ethics committee, a cross- sectional study was conducted in Vaupe’s, a department of the Colombian Amazon, between the years 2012 and 2013 in two districts. Based on the records obtained from a standardized format for the clinical evaluation of the participants and the factors associated with follicular trachoma, an excel database was built and debugged, which was analyzed using IBM SPSS, Statistics Version 23 and Stata STATA (Version 14, 2015, StataCorp LLC, Texas, USA). Results: The records of 13,091 individuals was collected from 216 rural indigenous communities, of which 12,080 were examined (92.3%); 7,274 in the Western and 4,806 in the Eastern districts. A prevalence of trachomatous inflammation–follicular (TF) of 21.7% (n = 599; 95% CI 20.2–23.3) in the Western and 24.9% (n = 483; 95% CI 23.1–26.9) in the Eastern district was found in children aged 1 to 9 years. Regarding trachomatous trichiasis (TT), 77 cases were found, of which 14 belonged to the Western district (prevalence 0.3%, CI 95% 0.2–0.5) and 63 to the Eastern district (1.8%, CI 95% 1.4–2.4). Children aged between 1 to 9 years were significantly more likely to have TF when there was the presence of secretions on the face (OR: 3.2; 95% CI: 2.6–3.9). Conclusions: Trachoma is a public health problem in Vaupes that requires the implementation of the SAFE strategy (S = Surgery, A = Antibiotics, F = Face Washing, E = Environment) in the Eastern and Western districts, for at least 3 consecutive years, in accordance with WHO recommendations. Resumen: Objetivos: Los objetivos del estudio fueron estimar la prevalencia de diferentes signos clínicos de tracoma e identificar posibles factores asociados al TF. Metodología: Tras la aprobación del protocolo de estudio por parte del comité de ética, se realizó un estudio transversal en Vaupés, departamento de la Amazonía colombiana, entre los años 2012 y 2013 en dos distritos. A partir de los registros obtenidos de un formato estandarizado para la evaluación clínica de los participantes y los factores asociados al tracoma folicular, se construyó y depuró una base de datos en Excel, la cual fue analizada utilizando IBM SPSS, Statistics Versión 23 y Stata STATA (Versión 14, 2015, StataCorp LLC, Texas, EE. UU.). Resultados: Se recolectaron los registros de 13.091 individuos de 216 comunidades indígenas rurales, de los cuales se examinaron 12.080 (92,3%); 7.274 en los distritos occidentales y 4.806 en los orientales. Se encontró una prevalencia de inflamación tracomatosa-folicular (TF) del 21,7% (n = 599; IC del 95% 20,2-23,3) en el occidental y del 24,9% (n = 483; IC del 95% 23,1-26,9) en el distrito del oriental en niños de 1 a 9 años. En cuanto a la triquiasis tracomatosa (TT), se encontraron 77 casos, de los cuales 14 pertenecían al distrito occidental (prevalencia 0,3%, IC 95% 0,2-0,5) y 63 al distrito oriental (1,8%, IC 95% 1,4-2,4). Los niños de entre 1 y 9 años tenían una probabilidad significativamente mayor de tener TF cuando había presencia de secreciones en la cara (OR: 3,2; IC del 95%: 2,6–3,9). Conclusiones: El tracoma es un problema de salud pública en Vaupés que requiere la implementación de la estrategia SAFE (S = Cirugía, A = Antibióticos, F = Lavado de Cara, E = Medio Ambiente) en los distritos oriental y occidental, por al menos 3 años consecutivos de acuerdo con las recomendaciones de la OMS.

Abstract: Introduction: The occlusion of coronary grafts used during myocardial revascularization surgery is a relatively frequent event. It has been described that between 7–15% are affected before 24 hours, and up to 30% per year being mainly related to technical errors. Pulsed Doppler offers the necessary requirements for an adequate intraoperative evaluation of grafts. The main objective of this study is to demonstrate it using the Fluxvisum prototype. Material and method: Longitudinal study carried out between March 2012 and June 2016 in surgically revascularized patients in which the elaborated coronary grafts were evaluated intraoperatively using pulsed Doppler. Results: 110 patients were studied, predominantly men older than 60 years, with a high prevalence of HT, DM and previous AMI, and diagnosis on admission to NSTEMI. The average measurements were: Qmed:31.7ml/min, PI:3.2, DFI:70.2. The Qmed was the flowmeter variable that was most statistically associated with the appearance of major cardiac events. In the logistic regression, the quality of LAD revascularization stood out as the main predictor of MACE (p=0.050, OR:2.599, 95%CI:0.972-6.947), death (p=0.004, OR:13.947, 95%CI:2,311-84,163), AMI (p=0.000, OR:11.331, 95%CI:2.995-42.867) and perioperative acute ischemia (p=0.049, OR:2.864, 95%CI:0.997-8.222). Conclusions: Pulsed Doppler flowmetry proved to be a tool with high prognostic power as a predictor of postoperative comorbidity and major cardiac events in surgically revascularized patients. Resumen: Introducción: La oclusión de los injertos coronarios utilizados durante la cirugía de revascularización miocárdica es un hecho relativamente frecuente. Se ha descrito que entre el 7–15% se afectan antes de las 24 horas, y hasta un 30% al año relacionándose principalmente con errores técnicos. El Doppler pulsado ofrece los requerimientos necesarios para una adecuada evaluación intraoperatoria de los injertos. El objetivo principal de este estudio es demostrarlo utilizando el prototipo Fluxvisum. Material y método: Estudio longitudinal realizado entre marzo de 2012 y junio del 2016 en pacientes revascularizados quirúrgicamente en los que los injertos coronarios elaborados fueron evaluados intraoperatoriamente utilizando Doppler pulsado. Resultados: Se estudiaron 110 enfermos predominantemente hombres mayores de 60 años, con una alta prevalencia de hipertensión arterial (HTA), diabetes mellitus (DM) e infarto agudo de miocardio (IMA) previo, y diagnostico al ingreso de SCASEST. Las mediciones promedio fueron: Qmed:31,7ml/min, IP:3,2, DFI:70,2. El Qmed fue la variable flujométrica que más se asoció estadísticamente con la aparición de eventos cardiacos mayores. En la regresión logística, la calidad de la revascularización de la DA destacó como el principal factor predictor de MACE (p=0,050, OR:2,599, CI95%:0,972–6,947), muerte (p=0,004, OR:13,947, CI95%:2,311–84,163), IMA (p=0,000, OR:11,331, CI95%:2,995–42,867) e isquemia aguda perioperatoria (p=0,049, OR:2,864, CI95%:0,997–8,222). Conclusiones: La flujometría con Doppler pulsado demostró ser una herramienta que tiene un alto poder pronóstico como predictor de comorbilidad posoperatoria y eventos cardiacos mayores en pacientes revascularizados quirúrgicamente.

Abstract: BACKGROUND: Attention-deficit/hyperactivity disorder (ADHD) is a neurodevelopmental disorder associated with significant morbidity and mortality that may affect over 5% of children and approximately 2.8% of adults worldwide. Pharmacological and behavioral therapies for ADHD exist, but critical symptoms such as dysexecutive deficits remain unaffected. In a randomized, sham-controlled, double-blind, crossover mechanistic study, we assessed the cognitive and physiological effects of transcranial direct current stimulation (tDCS) in 40 adult patients with ADHD in order to identify diagnostic (cross-sectional) and treatment biomarkers (targets). METHODS: Patients performed three experimental sessions in which they received 30 minutes of 2 mA anodal tDCS targeting the left dorsolateral prefrontal cortex, 30 minutes of 2 mA anodal tDCS targeting the right dorsolateral prefrontal cortex, and 30 minutes of sham. Before and after each session, half the patients completed the Eriksen flanker task and the other half completed the stop signal task while we assessed behavior (reaction time, accuracy) and neurophysiology (event-related potentials). RESULTS: Anodal tDCS to the left dorsolateral prefrontal cortex modulated cognitive (reaction time) and physiological (P300 amplitude) measures in the Eriksen flanker task in a state-dependent manner, but no effects were found in the stop signal reaction time of the stop signal task. CONCLUSIONS: These findings show procognitive effects in ADHD associated with the modulation of event-related potential signatures of cognitive control, linking target engagement with cognitive benefit, proving the value of eventrelated potentials as cross-sectional biomarkers of executive performance, and mechanistically supporting the statedependent nature of tDCS. We interpret these results as an improvement in cognitive control but not action cancellation, supporting the existence of different impulsivity constructs with overlapping but distinct anatomical substrates, and highlighting the implications for the development of individualized therapeutics.

Abstract: Cornelia de Lange Syndrome (CdLS) is an autosomal dominant (NIPBL, SMC3 and RAD21) or X-linked (SMC1A and HDAC8) disorder, characterized by distinctive craniofacial appearance, growth retardation, intellectual disability and limb anomalies. Its clinical presentation can be extremely variable. Here we report on a girl with classical CdLS phenotype, growth retardation, intellectual disability and gastroesophageal reflux disease, who is mosaic for the c.6647A>C mutation in the NIPBL gene. While this mutation was undetected by standard Sanger sequencing, it was identified by subsequent exome and panel sequencing approaches. Allele quantification by pyrosequencing showed the presence of the mutation in about 10%, 23.5% and 46.5% of DNA samples from peripheral blood leukocytes, buccal epithelial cells and fibroblasts, respectively. NIPBL mutations in a mosaic state are a frequent cause of CdLS, but clinical diagnosis of these patients can be challenging. In our case, the panel enriched sequencing as well as the exome sequencing clearly demonstrated to be very sensitive tools for mosaic mutation detection.

Abstract: Cornelia de Lange syndrome (CdLS) is a dominant inherited congenital developmental disorder characterized by facial dysmorphism, growth and cognitive impairment, limb malformations and multiple organ involvement. Mutations in five genes, encoding subunits of the cohesin complex (SMC1A, SMC3, RAD21) and its regulators (NIPBL, HDAC8), are responsible for ~ 70% of CdLS cases. Cohesin complex participates in chromosome segregation, DNA repair mechanisms, gene expression and chromosome conformation. Turner syndrome (TS) affects about one in 2000 live born females and results from complete or partial absence of one of the X chromosomes, frequently accompanied by cell-line mosaicism. Here, we describe a patient with CdLS due to a mutation in the NIPBL gene (c.1445_1448delGAGA, p.(Arg482Asnfs*20)) and mosaic TS (mos 45,X/46,XX karyotype). The patient showed multiple clinical features related to CdLS: craniofacial dysmorphism, pre- and post-natal growth delay, minor musculoskeletal anomalies, congenital heart defects and hirsutism. She also presented severe neurological involvement, including slight hypertonia, learning disabilities, verbal and motor development delay, intellectual impairment and (autistic-like features, aggression, self-injurious behaviour). In addition, the proband was clinically diagnosed with TS because of two typical recognizable features: the peripheral lymphedema and the webbed neck. Molecular characterization showed that the NIPBL mutation was present in the two tissues analyzed from different embryonic origins (peripheral blood lymphocytes from mesoderm and oral mucosa epithelial cells from ectoderm). However, FISH analyses revealed that the percentage of cells with monosomy X was low and tissue-specific. These findings indicate that, ontogenically, the NIPBL mutation may have appeared before the mosaic monosomy X. The coexistence in a patient of two rare disorders raises the issue of whether there is indeed a cause-effect association. In addition, we are forced to investigate the correlation between the genotype (a frameshift NIPBL mutation) and karyotype (mosaic X chromosome aneuploidy), with the patient’s phenotype. Therefore, we compare the clinical signs of each organ system described in our case to the typical clinical features of Cornelia de Lange and Turner syndromes. We conclude that our case seems to show a predominant CdLS phenotype, although additional TS manifestations might appear in adolescence. Besides, the significant neurological involvement reinforces the idea that the brain is the organ most sensitive to cohesin disruption.

Abstract: Objective: To investigate opportunities for task shifting to decongest an outpatient neurology clinic in Zambia by describing current patient flow through the clinic and potential nodes for intervention using process mapping. Background: Zambia has a population of approximately 18 million people with 4 full-time adult neurologists, as of 2018, who all practice at the University Teaching Hospital (UTH), the main tertiary care center in the country. As a result of this provider-to-patient ratio, the outpatient neurology clinic is overcrowded and overbooked. Task-shifting programs have shown to improve efficiency, access and quality of care through the use of less specialized healthcare workers in low- and middle-income countries (LMIC). Methods: We evaluated patient flow in the UTH neurology outpatient clinic through the development and analysis of a process map. The characteristics of the clinic population between 2014 and 2018 were retrospectively reviewed from the clinic register. Between July and August 2018, we prospectively collected appointment lag times and time each patient spent waiting at various points in the clinic process. We conducted interviews with clinic staff and neurologists to generate a detailed process map of current pathways to care within the clinic. We then devised task- shifting strategies to help reduce patient wait times based on the overview of clinic process mapping and patient demographics. Results: From 2014 to 2018, there were 4701 outpatients seen in the neurology clinic. The most common neurologi- cal diagnoses were epilepsy (39.2%), headache (21.5%) and cerebrovascular disease (16.7%). During prospective data collection, patients waited an average of 57.8 (SD 73.4) days to be seen by a neurologist. The average wait time from arrival in the clinic to departure was 4.0 (SD 2.5) h. The process map and interviews with clinic staff revealed long waiting times due to a paucity of providers. Nurses and clerks represent an influential stakeholder group, but are not actively involved in any activity to reduce wait times. A large proportion of follow-up patients were stable and seen solely to obtain medication refills. Conclusions: Epilepsy, headache, and stroke make up the largest percentage of outpatient neurological illness in Zambia. Targeting stable patients in these diagnostic categories for a task-shifting intervention may lead to substan- tially decreased patient wait times. Potential interventions include shifting clinical follow-ups and medication refills to less specialized healthcare workers.

Abstract: Objective: To investigate opportunities for task shifting to decongest an outpatient neurology clinic in Zambia by describing current patient flow through the clinic and potential nodes for intervention using process mapping. Background: Zambia has a population of approximately 18 million people with 4 full-time adult neurologists, as of 2018, who all practice at the University Teaching Hospital (UTH), the main tertiary care center in the country. As a result of this provider-to-patient ratio, the outpatient neurology clinic is overcrowded and overbooked. Task-shifting programs have shown to improve efficiency, access and quality of care through the use of less specialized healthcare workers in low- and middle-income countries (LMIC). Methods: We evaluated patient flow in the UTH neurology outpatient clinic through the development and analysis of a process map. The characteristics of the clinic population between 2014 and 2018 were retrospectively reviewed from the clinic register. Between July and August 2018, we prospectively collected appointment lag times and time each patient spent waiting at various points in the clinic process. We conducted interviews with clinic staff and neurologists to generate a detailed process map of current pathways to care within the clinic. We then devised task- shifting strategies to help reduce patient wait times based on the overview of clinic process mapping and patient demographics. Results: From 2014 to 2018, there were 4701 outpatients seen in the neurology clinic. The most common neurologi- cal diagnoses were epilepsy (39.2%), headache (21.5%) and cerebrovascular disease (16.7%). During prospective data collection, patients waited an average of 57.8 (SD 73.4) days to be seen by a neurologist. The average wait time from arrival in the clinic to departure was 4.0 (SD 2.5) h. The process map and interviews with clinic staff revealed long waiting times due to a paucity of providers. Nurses and clerks represent an influential stakeholder group, but are not actively involved in any activity to reduce wait times. A large proportion of follow-up patients were stable and seen solely to obtain medication refills. Conclusions: Epilepsy, headache, and stroke make up the largest percentage of outpatient neurological illness in Zambia. Targeting stable patients in these diagnostic categories for a task-shifting intervention may lead to substan- tially decreased patient wait times. Potential interventions include shifting clinical follow-ups and medication refills to less specialized healthcare workers.

Abstract: Functional Electrical Stimulation (FES) and robotic gait orthoses are rehabilitation technologies that help patients who have lost their normal gait function due to conditions such as spinal cord injury or stroke. FES promotes active muscle contractions that facilitate the rehabilitation process, while the Lokomat (an automated gait orthosis developed by Hocoma in collaboration with Balgrist University Hospital) provides passive limb movements that help to restore and increase mobility. The goal of this project was to combine both technologies in order to improve the beneficial effects that they provide individually. For that purpose, a control algorithm was developed for real-time Linux using an Iterative Learning Control approach in parallel with feedback control. The system was implemented on the ankle and knee joints. The ankle was controlled using a desired angle based on medical literature, while the knee was controlled using a reference force trajectory measured on subjects inside the Lokomat under high-effort conditions. As an alternative to force control on the knee, angle control was implemented for experiments in the lab. The controllers were tested on healthy subjects with and without the inclusion of voluntary movement. Based on these tests, we show the advantages and disadvantages of the control scheme and the physical setup, and give ideas for further improvement. Resumen: La estimulación eléctrica funcional (FES) y las ortesis de marcha robótica son tecnologías de rehabilitación que ayudan a los pacientes que han perdido su función de marcha normal debido a afecciones como una lesión de la médula espinal o un accidente cerebrovascular. FES promueve contracciones musculares activas que facilitan el proceso de rehabilitación, mientras que Lokomat (una órtesis de marcha automatizada desarrollada por Hocoma en colaboración con el Hospital Universitario Balgrist) proporciona movimientos pasivos de las extremidades que ayudan a restaurar y aumentar la movilidad. El objetivo de este proyecto fue combinar ambas tecnologías para mejorar los efectos beneficiosos que proporcionan individualmente. Para ello, se desarrolló un algoritmo de control para Linux en tiempo real utilizando un enfoque de control por aprendizaje iterativo en paralelo con el control de retroalimentación. El sistema se implementó en las articulaciones del tobillo y la rodilla. El tobillo se controló usando un ángulo deseado basado en la literatura médica, mientras que la rodilla se controló usando una trayectoria de fuerza de referencia medida en sujetos dentro del Lokomat bajo condiciones de alto esfuerzo. Como alternativa al control de fuerza en la rodilla, se implementó el control de ángulo para experimentos en el laboratorio. Los controladores se probaron en sujetos sanos con y sin la inclusión de movimiento voluntario. Con base en estas pruebas, mostramos las ventajas y desventajas del esquema de control y la configuración física, y brindamos ideas para mejoras adicionales.

Resumen: PREGUNTA DE ESTUDIO: ¿Cuáles son las opiniones de las mujeres sobre tener hijos, incluida la edad a la que quieren tenerlos y otras influencias como como la pandemia de la enfermedad por coronavirus 2019 (COVID-19)? RESPUESTA RESUMIDA: Las opiniones de las mujeres sobre tener hijos, a su edad preferida de 30 años, incluían su impulso maternal y sus preocupaciones. sobre su reloj biológico y estabilidad, mientras que el 19% dijo que COVID-19 había afectado sus puntos de vista. DISEÑO DEL ESTUDIO, TAMAÑO, DURACIÓN: Realizamos una encuesta anónima en línea de preguntas abiertas y de opción múltiple. los La encuesta estuvo activa durante 32 días, desde el 15 de mayo de 2020 hasta el 16 de junio de 2020, y se promocionó a través de las redes sociales. PARTICIPANTES/MATERIALES, ESCENARIO, MÉTODOS: Un total de 887 mujeres de 44 países participaron en la encuesta. Después de filtrar de las mujeres que no dieron su consentimiento, dieron respuestas en blanco o incompletas, y aquellas que no estaban en el Reino Unido, quedaron 411 respuestas. Desde los datos, se analizaron tres áreas de cuestionamiento: sus opiniones sobre tener hijos, la edad ideal a la que quieren tener hijos y los efectos de la pandemia de COVID-19. Los datos cualitativos fueron analizados por análisis temático. PRINCIPALES RESULTADOS Y EL PAPEL DEL AZAR: La edad media (§SD) de las mujeres que completaron la encuesta fue de 32,2 años. (§5.9), siendo mayoritariamente heterosexuales (90,8%) y 84,8% con estudios universitarios. Un tercio de las mujeres estaban casadas/en matrimonio pareja (37,7%) y 36,0% convivían. En relación a sus visiones sobre tener hijos, los principales temas identificados fueron: la urgencia, el tictac del reloj biológico, ¿por qué nadie nos enseñó esto?, la necesidad de estabilidad y equilibrio en su vida, presión para comenzar una familia y considerando otras maneras de tener una familia. Ante la pregunta 'En un mundo ideal, ¿a qué edad aproximadamente te gustaría tener tuvo o tiene hijos?’ se observó una distribución normal con una edad media de 29,9 (§3.3) años. Cuando se le preguntó ""¿Qué factores le han llevado decidir sobre esa edad en particular?’, la elección más frecuente fue ‘Estoy desarrollando mi carrera’. Tres temas surgieron de la cualitativa pregunta sobre por qué eligieron esa edad: la necesidad de estabilidad y equilibrio en su vida, la importancia de encontrar el momento adecuado y las experiencias de vida. La mayoría de las mujeres sintieron que la pandemia de COVID-19 no había afectado su decisión de tener hijos (72,3%), pero el 19,1% dijo tenía. Los comentarios cualitativos mostraron que tenían preocupaciones sobre la inestabilidad en su vida, como finanzas y carreras, y retrasos en la fertilidad. Tratamiento.