Proctitis y enfermedad perianal de causa infecciosa: una mirada más allá de la enfermedad inflamatoria intestinal / Infectious proctitis and perianal disease: a gaze beyond inflammatory bowel disease

Resumen La proctitis infecciosa secundaria a una enfermedad de transmisión sexual ha aumentado en incidencia y deben ser consideradas especial-mente en varones homosexuales o bisexuales con síntomas rectales. Presentamos un paciente con una proctitis y enfermedad perianal por Chlamydia trachomatis que podría haber sido diagnosticado con otra enfermedad ano-rectal como es la enfermedad inflamatoria intestinal, si la historia clínica no hubiese sido considerada. Un alto nivel de sospecha es necesario para evitar un diagnóstico incorrecto, retrasar el tratamiento antimicrobiano y el desarrollo de complicaciones.

Abstract Infectious proctitis by sexually transmitted diseases are increasing in incidence and should be considered in homosexual patients with rectal symptoms. In this case, we show a patient with proctitis and perianal disease caused by Chlamydia trachomatis that could be diagnosed as another anorectal disease such as inflammatory bowel disease if the clinical history is not taken into account. A high level of suspicion is crucial, in order to avoid an incorrect diagnosis, delayed antibiotic therapy and the development of complications.

Apendicectomía profiláctica en la dotación Antártica: experiencia del Hospital de la Fuerza Aérea de Chile / Prophylactic appendectomy in the Antarctic endowment: experience of the Chilean Air Force Hospital

Resumen Objetivo: Reportar y caracterizar las complicaciones quirúrgicas de las apendicectomías laparoscópicas electivas profilácticas, realizadas a pacientes destinados a dotación antártica, realizadas en Hospital clínico de la Fuerza Aérea de Chile (FACh). Materiales y Método: Análisis retrospectivo descriptivo de fichas clínicas de todos los pacientes sometidos a apendicectomía laparoscópica profiláctica entre los años 2013 y 2017 en Hospital FACh. Se registraron variables demográficas y quirúrgicas de los pacientes. Las complicaciones fueron registradas y clasificadas de acuerdo a Clavien-Dindo. Resultados: Se incluyeron 200 pacientes, 96% hombres y solo 4% mujeres. Se registraron 6 pacientes (3%) con complicaciones quirúrgicas, clasificadas como grado I según Clavien-Dindo. Discusión: No existen reportes de complicaciones en apendicectomías profilácticas. En nuestra serie éstas alcanzan el 3%. Conclusiones: La apendicectomía profiláctica es una cirugía segura, con escasas complicaciones, pero existen y se desarrollan en un paciente que estaba previamente sano.

Aim: To present and characterize surgical complications of elective prophylactic appendectomies, performed in patients for the Antarctic endowment at the Hospital Clínico de la Fuerza Aérea de Chile. Materials and Method: Retrospective descriptive analysis of all patients operated of prophylactic laparoscopic appendectomy between 2013 and 2017. Demographic and surgical variables of the patients were recorded and analysed. Complications were classified according Clavien-Dindo. Results: 200 patients were included, 96% mens. Six patients (3%) had a surgical complication, all classified as Grade I. Discussion: There are no previous reports of surgical complications on prophylactics appendectomies. The complications rate is 3%. Conclusions: The prophylactic appendectomy is a safe surgery with a low rate of complications, although its exists and develops in a previously healthy patient.

Orientaciones Deporte y COVID-19: Recomendaciones sobre el retorno a la actividad física y deportes de niños niñas y adolescentes / Sport COVID-19 Orientations: Recommendations for return to physical activity and sports in children and adolescents

Resumen: La pandemia por COVID-19, originada en diciembre de 2019 en Wuhan, China, obligó a los países, incluido Chile, a un confinamiento masivo para evitar la propagación de SARS-CoV2. Desde marzo de 2020 en Chile, también se afectó la realización de actividad física y deporte en los niños, niñas y adolescentes (NNA). En un esfuerzo por reunir la escasa evidencia disponible sobre el retorno a la práctica de ejercicio en NNA post pandemia COVID-19 y la opinión de expertos de 4 sociedades científicas y académicas (Sociedad Chilena de Medicina del Deporte, Sociedad Chilena de Pediatría, Sociedad Chilena de Kinesiología Deportiva y la Consejo Académico Nacional de Educación Física) se han generado recomendaciones para un retorno seguro a la actividad para el ramo Educación Física y Salud, deporte escolar y federado tanto para disminuir los riesgos asociados a los efectos del confinamiento como para evitar la propagación de COVID-19. Adicionalmente, se incluyen una guía de recomendación para padres y profesores y otra para médicos sobre la vigilancia y evaluación de los pacientes NNA que sostendrán enfermedad COVID-19 y deseen volver al deporte y ejercicio.

Abstract: The COVID-19 pandemic, originated in December 2019 in Wuhan, China, forced a massive quaran tine in most countries including Chile to avoid the propagation of SARS-CoV2. Since March 2020 in Chile, it affected the participation of children and youth athletes as well in education, physical activity and sports. In an effort to assess the scarce available evidence about return to sport and exercise in children and adolescents post COVID-19 pandemic and gather the opinion of experts of 4 Chilean scientific and academic societies (Sociedad Chilena de Medicina del Deporte, Sociedad Chilena de Pediatría, Sociedad Chilena de Kinesiología Deportiva and Consejo Académico Nacional de Edu cación Física) we have produced recommendations for a safe return to activities in Physical Activity and Health class, School Sports and Federation Sports to reduce the risks associated with the effects of confinement and to avoid the propagation of COVID-19 and. Additionally, a recommendation for parents and teachers and a another for physicians for surveillance and evaluation of children and adolescents who were or will become COVID-19 patients and wish to return to sports end exercise.

Symptoms of anxiety and depression and self-care behaviors during the COVID-19 pandemic in the general population / Síntomas de ansiedad, depresión y conductas de autocuidado durante la pandemia de COVID-19 en la población general

Abstract Introduction: The COVID-19 pandemic can have important psychosocial consequences in the population. Objective: To determine the levels anxiety and depression symptoms and self-care behaviors during the COVID-19 pandemic in the general population. Method: Online survey distributed over three weeks using a non-probability sampling. The PHQ-9 Patient Health Questionnaire, the GAD-7 Generalized Anxiety Disorder Scale and a self-care behaviors visual analogue scale were used. Between-group (anxiety and depression) descriptive and comparison analyses were carried out. Results: Out of 1508 included participants, 20.8 % had symptoms of severe anxiety, while 27.5 % showed symptoms of severe depression. Being a woman, being single, having no children, having medical comorbidities and a history of mental health care were associated with the presence of higher levels of anxiety and depression symptoms; 66 to 80 % of the population complied with self-care recommendations. A need for receiving mental health care was identified in our study population. Conclusion: A larger number of individuals with moderate to severe anxiety and depression symptoms were observed than in other pandemics. COVID-19 pandemic psychological effects are considered an emerging public mental health problem, and implementation of programs for their care is therefore recommended.

Resumen Introducción: La pandemia por COVID-19 puede tener consecuencias psicosociales importantes en la población. Objetivo: Determinar los niveles de síntomas de ansiedad, depresión y conductas de autocuidado durante la pandemia de COVID-19 en población general. Método: Encuesta en línea distribuida durante tres semanas mediante muestreo no probabilístico. Se empleó el Cuestionario sobre la Salud del Paciente PHQ-9, la Escala del Trastorno de Ansiedad Generalizada GAD-7 y la Escala análoga visual de conductas de autocuidado. Se realizaron análisis descriptivos y de comparación entre los grupos con ansiedad y depresión. Resultados: Se incluyeron 1508 participantes, 20.8 % presentó síntomas de ansiedad grave y 27.5 %, síntomas de depresión grave. Ser mujer, soltero(a) no tener hijos, presentar comorbilidad médica y antecedentes de atención a la salud mental estuvieron relacionados con la presencia de mayores niveles de síntomas de ansiedad y depresión; 66 a 80 % de la población cumplía con las recomendaciones de autocuidado. Se identificó la necesidad de recibir atención de salud mental. Conclusión: Se observó mayor número de individuos con síntomas de ansiedad y depresión moderadas a graves que en otras pandemias. Los efectos psicológicos de la pandemia de COVID-19 se consideran un problema de salud mental pública emergente, por lo que se recomienda la implementación de programas para su atención.

O contributo da educação física para a a formação de indivíduos fisicamente cultos: uma perspetiva portuguesa / The contribution of physical education to the training of physically educated individuals: a portuguese perspective / Las aportaciones de la educación física para la formación de individuos físicamente cultos: una perspectiva portuguesa

Resumo: Este trabalho, realizado com 150 indivíduos no final da escolaridade obrigatória e candidatos a uma licenciatura em Ciências do Desporto, pretende perceber se a Educação Física está a contribuir para a formação de indivíduos fisicamente cultos. Seguimos uma metodologia quantitativa e optámos por um questionário com três partes: a primeira de questões fechadas e de caracterização sociodemográfica da amostra; a segunda, também de questões fechadas, sobre o entendimento acerca das Finalidades da Educação Física; e a terceira composta por 25 afirmações de escolha dicotómica (verdadeiro/falso), sobre conteúdos fundamentais para uma prática autónoma de atividade física, constantes nos Programas Nacionais de Educação Física (Currículos Nacionais) para o ensino secundário. Os resultados revelam fragilidades nos conhecimentos dos indivíduos relativamente ao desenvolvimento das capacidades motoras, aos efeitos da prática de exercício físico, a procedimentos de segurança e à composição e funcionamento corporal, afastando-se do preconizado por aqueles Programas Nacionais.

Abstract: This study was carried out with 150 male students at the end of their mandatory education and with candidates to a degree in Sports Science and Physical Education. It aims to understand if Physical Education contributed to the education of physically educated individuals. We followed a quantitative methodology and administered a three-part questionnaire: close-ended questions for the sociodemographic characterization of the sample; close-ended questions on participants' understanding of the purposes of Physical Education; true-or-false questions on fundamental contents for an autonomous practice of physical activity, which are included in the National Curricula of Physical Education for secondary school. The results reveal individuals' weak knowledge of motor skills development, effects of physical exercise, safety procedures, and body composition and functioning, which is not in accordance with National Curricula.

Resumen: Este trabajo, realizado con 150 estudiantes al final de su escolaridad obligatoria y aspirantes a cursar la licenciatura en Ciencias del Deporte, pretende averiguar si la Educación Física está contribuyendo con la formación de individuos físicamente cultos. Seguimos una metodología cuantitativa y optamos por un cuestionario con tres partes: la primera con cuestiones cerradas y de caracterización sociodemográfica de los participantes; la segunda, también con cuestiones cerradas y sobre su entendimiento acerca de las finalidades de la Educación Física; y la tercera, compuesta por 25 afirmaciones de selección dicotómica (verdadero y falso), sobre contenidos fundamentales para una práctica autónoma de la actividad física y que constan en los Programas Nacionales de Educación Física (Currículos Nacionales) para el bachillerato. Los resultados revelan fragilidades en los conocimientos de los participantes en lo referente al desarrollo de las capacidades motoras, los efectos de la práctica de ejercicio físico, los procedimientos de seguridad y la composición y funcionamiento corporal, alejándose de lo preconizado en aquellos Programas Nacionales.

Aneurisma gigante de la arteria coronaria derecha, reporte de un caso y revisión de la literatura / Giant aneurysm of the right coronary artery, report of a case and review of the literature

Resumen Los aneurismas de las arterias coronarias se definen como una dilatación localizada que excede el diámetro normal en 1.5 veces. Esta es una condición poco frecuente, su incidencia varía del 0.3 hasta el 5.3% de las angiografías coronarias. Los aneurismas que exceden cuatro veces el diámetro del vaso normal se consideran gigantes. Estos son aún más raros y se presentan en el 0.02 a 0.2% de todos los casos. Existe controversia en cuanto a su fisiopatología, sin embargo, hasta el 50% de los casos se relacionan con la aterosclerosis. Se diagnostican más frecuentemente entre la sexta y séptima décadas de vida. Las principales manifestaciones clínicas están relacionadas con la cardiopatía isquémica. Respecto a su tratamiento, no existe un consenso del manejo en los pacientes adultos, las opciones son: médico, quirúrgico o intervencionismo. Reportamos la presencia de un aneurisma gigante de la coronaria derecha y ectasia gigante del sistema izquierdo con trombosis activa en un hombre con antecedentes de un aneurisma en la aorta abdominal, tratado por vía endovascular, e infarto agudo al miocardio sin elevación del segmento ST no reperfundido. Requirió de estudio de angiotomografía coronaria, el cual permitió la identificación de las características anatómicas de esta enfermedad.

Abstract Coronary artery aneurysms are described as a localized dilatation that exceeds the normal diameter by 1.5 times. This is a rare condition; its incidence varies from 0.3% up to 5.3% of all coronary angiographies. Those aneurysms that exceed 4 times the diameter of a normal artery are considered giant aneurysms, which are even more uncommon, presenting between 0.02% and 0.2% of all cases. There is controversy regarding its pathophysiology, however, up to 50% of the cases are related to atherosclerosis. They are diagnosed more frequently between the sixth and seventh decade of life. The main clinical manifestations are related to ischemic heart disease. Regarding their treatment, there is no general consensus towards its management in adult patients. The options are medical, surgical or percutaneous treatment. We report the presence of a giant aneurysm of the right coronary artery and giant ectasia of the left coronary system with active thrombosis in a man with history of an abdominal aortic aneurysm, with endovascular treatment and a non-ST segment elevation myocardial infarction with no reperfusion strategy, who required a coronary computed tomography, identifying the anatomical characteristics of this disease.

Terapia continua intra-arterial selectiva con nimodipino para el tratamiento del vasoespasmo refractario en hemorragia subaracnoidea aneurismática: caso clínico / Continuous intra arterial nimodipine for vasospasm secondary to subarachnoid hemorrhage: report of one case

We report a 39-year-old male with an aneurysmal subarachnoid hemorrhage without hydrocephalus, in whom a right choroidal aneurysm was early excluded by endovascular coil insertion. Intracranial pressure (PIC) and cerebral oxygenation (PtiO2) sensors for neuromonitoring were installed due to a persistent comatose state. From the 3rd day, neuromonitoring became altered. CT angiography and cerebral angiography showed severe proximal and distal vasospasm (VE) of the middle (ACM) and anterior (ACA) right cerebral arteries. VE was treated with angioplasty and intravenous nimodipine. Forty eight hours later, despite hemodynamic maximization, neuromonitoring became altered again, mainly explained by a decrease in PtiO2 below 15 mmHg. A severe VE in ACM and right ACA was confirmed by angiography. Given the presence of an early and recurrent VE, which was associated with a decrease in cerebral oxygenation, internal carotid micro-catheters for continuous nimodipine infusion were installed. This therapy maintained a normal neuromonitoring for 15 days. During this period, attempts were done to decrease or discontinue the infusion, but the patient presented parallel falls of cerebral oxygenation or decreased cerebral perfusion observed with perfusion CT, interpreted as persistent VE. Finally, the infusion was stopped at day 15 without significant complication. We conclude that intra-arterial nimodipine continuous infusion in refractory VE can be useful and safe in selected patients. Multimodal neuromonitoring is essential.

Intervención en crisis: estrategia de enfermería para el afrontamiento de la vivencia dolorosa / Intervention in crisis: nursing strategy for coping with painful life

INTRODUCCIÓN: la enfermera, debido a su quehacer como profesional del cuidado, mantiene una cercanía mayor que el resto de los profesionales de salud con los usuarios que son sujetos de sus cuidados, muchos de los que experimentarán dolor en distintas intensidades. esta cercanía emplaza a las enfermeras en una ubicación estratégica para detectar el dolor precozmente e intervenir de manera oportuna, desde una mirada holística. el dolor como concepto se trata de un constructo universalmente conocido por todos los seres humanos, pero a la vez vivenciado por cada uno de nosotros de manera única e individual. sobre la vivencia dolorosa participan factores multidimensionales, más allá del biológico, destacando el componente emocional, del cual se ha investigado sobre su relación bidireccional con la sensación dolorosa. desde esta relación bidireccional, es que la vivencia dolorosa puede convertirse en una crisis situacional con consecuencias graves para la salud mental del individuo, la contención emocional que pueda realizar un profesional de enfermería a través de la intervención en crisis favorecerá el afrontamiento emocional más efectivo posible de la vivencia dolorosa. OBJETIVOS: realizar una revisión bibliográfica respecto a la aplicación de la intervención en crisis, como estrategia para la entrega de cuidados de enfermería dirigidos a usuarios portadores de dolor, considerando la estrecha relación existente entre el dolor y calidad de vida. MATERIAL Y MÉTODO: revisión bibliográfica de estudios sobre la participación de enfermería en pacientes que sufren dolor físico, de tipo agudo y/o crónico, a través de intervención en crisis, disponible y publicado en revistas chilenas e internacionales en idioma español o inglés. búsqueda bibliográfica de información publicada en bases de datos electrónicas nacionales e internacionales, que publican información científica nacional e internacional: Scopus, Enferteca y Google Académico. los descriptores en inglés y en español que se utilizaron en la búsqueda fueron: pain (dolor), nursing (enfermería), crisis intervention (intervención en crisis). para la búsqueda en español se utilizaron los siguientes descriptores: dolor, enfermería, intervención en crisis. RESULTADOS: una vez realizada la revisión bibliográfica, se confirma escasez de publicaciones vinculadas a la intervención en crisis con participación específica de profesionales de enfermería en personas que presentan dolor físico. se acepta que la preparación emocional previa, así como el acompañamiento emocional de quien sufre dolor, tienen impacto sobre la intensidad del dolor, sin embargo no es posible cuantificar. DISCUSIÓN: la intervención en crisis de enfermería tiene impacto sobre los factores psicológicos, emocionales y sociales asociados a la vivencia dolorosa. adquiere protagonismo la realización de una valoración de enfermería integral y multidimensional en el momento que la persona reporta dolor, con la finalidad de planificar cuidados integrales que aborden los factores determinantes de dolor identificados de una manera integral, tanto en la etapa de preparación, afrontamiento y posterior a la vivencia dolorosa. es necesario capacitar al profesional de enfermería en salud mental a través de técnicas de intervención, considerando que se constituye como el primero en la cadena de atención de la persona que sufre dolor.

INTRODUCTION: nurses, as professional caretakers, have a proportionally closer relation than other health professionals with the users who are subjected to their care, many of whom will experience pain of varying intensity. this closeness places nurses in a strategic position to detect pain precociously and intervene in a timely manner from a holistic viewpoint. as a concept, pain is a construct universally known by all human beings, but at the same time it is experienced by each of us in a unique and individual way. multidimensional factors participate in the pain experience, beyond the purely biological, with the emotional component standing out, with research being done on its bidirectional relation with the painful feeling. from this bidirectional relation the painful experience can turn into a situational crisis with serious consequences to the individual's mental health, so the emotional containment that a nursing professional can be realized through the crisis intervention will favor the most effective emotional handling of this painful experience. OBJECTIVES: to make a literature review on the application of crisis intervention as a strategy to deliver nursing care aimed at pain bearers, considering the close relation existing between the pain and the quality of life. MATERIAL AND METHODS: a literature review of studies published on nursing interventions by performing crisis interventions to take care of patients suffering acute and/or chronic physical pain, published in chilean and international journals in spanish or english language, available in national and international electronic data bases that publish national and international scientific information, like Scopus, Enferteca, and Academic Google. the descriptors that were used for the search were pain, nursing, and crisis intervention in english, and dolor, enfermería, and intervención en crisis in spanish. results: tthe literature review confirmed the scarcity of publications on crisis intervention with specific participation of nursing professionals in people presenting physical pain. it is accepted that the previous emotional training, as well as the emotional support of those suffering pain, have an impact on the intensity of pain, yet it cannot be quantified. DISCUSSION: nursing crisis intervention has an impact on the psychological, emotional, and social factors associated with a painful experience. making an integral and multidimensional nursing valuation at the time the person reports pain takes on a greater role, with the purpose of planning integral care that will deal with the factors determining the pain identified in an integral manner, in preparing, coping with, and following the painful experience. It is necessary to train the nurse in mental health through intervention techniques, considering that this professional becomes the first one in the attention chain of the person who suffers pain.

Sarcoma pleomórfico. Presentación de un caso / Pleomorphic sarcoma. Case presentation

Se presenta un paciente del sexo masculino de 36 años de edad, que en el momento del inicio del cuadro clínico, a partir de un trauma leve, debutó con fiebre, dolor y aumento de temperatura a nivel del muslo derecho, se valoró como un posible hematoma abscedado por lo que requirió ingreso y tratamiento quirúrgico. Posterior al alta y dos meses de evolución, regresa al centro hospitalario por presentar una evolución tórpida con un aumento de volumen de tipo tumoral se ingresó, estudió y se valoró por un equipo de especialistas multidisciplinarios decidiendo una nueva intervención quirúgica en base a los resultados de laboratorio y estudios imagino lógicos, se le realizó exéresis de la tumoración (a nivel del vasto externo) con margen oncológico y enviado para anatomía patológica, informado como un sarcoma pleomórfico, llevó posteriormente tratamiento adyuvante de quimioterapia, contando con 10 años de sobrevivencia en la actualidad y totalmente asintomático.

The case of a male patient aged 36 years is presented. The clinical characteristics are the following: after a light trauma, he had fever, pain, temperature increase in the right thigh. It was diagnosed as a possible abscessed hematoma and the patient was admitted in the hospital and surgically treated. After discharging and two-months evolution, he came back to the hospital presenting a torpid evolution with a tumoral-kind volume increase. He was readmitted, studied and evaluated by a team of multidiscipline specialists, who decided a new surgical intervention based on the laboratory and imaging studies. Tumor was removed (at the level of external vastus) with oncologic margin and send to pathologic anatomy. It was informed as a pleomorphic sarcoma. An adjuvant chemotherapeutic treatment was applied later. Currently, the patient has survived 10 years and is totally asymptomatic.

Sensibilidad in vitro a fluconazol y voriconazol de especies de Candida aisladas de las manos de trabajadores de salud y pacientes / In vitro susceptibility to fluconazole and voriconazole of Candida species isolated from the hands of health care workers and patients

Las manos del personal de salud se consideran importantes para la colonización e infección por Candida spp. El objetivo del estudio fue determinar la prevalencia y distribución de levaduras aisladas en las manos de trabajadores de salud y algunos pacientes, así como su sensibilidad in vitro frente al fluconazol y voriconazol. El estudio se realizó en tres servicios del Complejo Hospitalario Universitario “Ruíz y Páez”: unidad de cuidados intensivos, retén patológico y retén sano. El estudio de sensibilidad se realizó mediante el método de difusión con discos (Documento M44-A2). Se obtuvieron 79 aislamientos, de los cuales el 50,6% fue Candida albicans y el 49,4% especies no albicans. Las especies no albicans predominantes fueron C. tropicalis (n=25; 31,6%) seguidas del Complejo C. parapsilosis (n=13; 16,5%). El 87,3% y 91,1% de los aislados fue sensible al fluconazol y voriconazol, respectivamente. El 11,4% y 6,3% fue resistente al fluconazol y al voriconazol. Los resultados de este estudio demuestran que el estado de portador de levaduras en las manos del personal de salud es importante, por lo tanto es indispensable educarlos sobre el lavado adecuado de las manos, uso de guantes y uso de antisépticos para evitar o minimizar la posibilidad de transmisión de estos agentes.

The hands of health care workers are considered important for colonization and infection by Candida spp. The aim of the study was to determine the prevalence and distribution of yeasts isolated from the hands of health personnel and some patients and their in vitro susceptibility to fluconazole and voriconazole. The study was conducted in three services of the Hospital Universitario “Ruiz y Páez”: Neonatal Intensive Care Unit and Healthy and Pathologic Newborn Units. The susceptibility tests were performed by the disk diffusion method (document M44-A2). A total of 79 isolates were obtained, of which 50.6% were Candida albicans and 49.4% non-albicans species. Among the non-albicans species were C. tropicalis (n = 25; 31.6%) followed by C. parapsilosis complex (n = 13; 16.5%). 87.3% and 91.1% of isolates were sensitive to fluconazole and voriconazole, respectively. 11.4% and 6.3% were resistant to fluconazole and voriconazole. The results of this study demonstrate the importance of the carriage of yeasts in the hands of health personnel; therefore it is essential to educate them about proper hand washing, use of gloves and antiseptic products to prevent or minimize the transmission of these agents.

Identification of the nicotinamide mononucleotide adenylyltransferase of Trypanosoma cruzi

The intracellular parasite Trypanosomacruzi is the aetiological agent of Chagas disease, a public health concern with an increasing incidence rate. This increase is due, among other reasons, to the parasite’s drug resistance mechanisms, which require nicotinamide adenine dinucleotide (NAD+). Furthermore, this molecule is involved in metabolic and intracellular signalling processes necessary for the survival of T. cruzithroughout its life cycle. NAD+biosynthesis is performed by de novo and salvage pathways, which converge on the step that is catalysed by the enzyme nicotinamide mononucleotide adenylyltransferase (NMNAT) (enzyme commission number: 2.7.7.1). The identification of the NMNAT of T. cruziis important for the development of future therapeutic strategies to treat Chagas disease. In this study, a hypothetical open reading frame (ORF) for NMNAT was identified in the genome of T. cruzi.The corresponding putative protein was analysed by simulating structural models. The ORF was amplified from genomic DNA by polymerase chain reaction and was further used for the construction of a corresponding recombinant expression vector. The expressed recombinant protein was partially purified and its activity was evaluated using enzymatic assays. These results comprise the first identification of an NMNAT in T. cruziusing bioinformatics and experimental tools and hence represent the first step to understanding NAD+ metabolism in these parasites.

Análisis molecular del cáncer de colon esporádico / Molecular analysis of sporadic colon cancer

Background: In Chile, colorectal cancer (CRC) is often diagnosed in late stages. Thus, surgical treatment must be complemented with chemotherapy. KRAS mutations and microsatellite instability have been detected in these tumors. However, the response to treatment in patients without KRAS mutations varies and requires a better understanding. Aim: To determine the frequency and distribution of somatic point mutations in KRAS, BRAF and PIK3CA genes and microsatellite instability status (MSI) in patients with colon cancer (CC). Material and Methods: A prospective observational study of patients undergoing surgery for colon cancer. Tumor-derived DNA was analyzed by polymerase chain reaction (PCR) for the most frequent mutations of KRAS, BRAF and PIK3CA. PCR was also used to analyze MSI. Results: Fifty-eight patients with sporadic CC were analyzed, 16 showed KRAS mutations (G12R, G12D, G12V, G13D) and out of the 42 patients that did not show any mutation, 10 had mutations in BRAF (V600E) and PIK3CA (E542K, E545D, E545K, Q546E, H1047R). BRAF mutations alone or in combination with PIK3CA mutations were observed in 27% of high MSI tumors and in 2% of tumors without instability (p < 0.049). A higher percentage of high MSI tumors were located in the right colon (p < 0.001), and showed BRAF mutation (p < 0.020). Conclusions: The highest percentage of high MSI and BRAF mutations was observed in the right colon. Therefore, this study suggests the presence of different molecular features between right and left colon tumors that should be considered when defining the therapeutic management.

Mutation c.1190-1delG/N in intron 8 and c.1708G>C/N in exon 12 not reported in the IDUA gene developed a clinical phenotype of Scheie syndrome / Mutación c.1190-1delG/N en el intrón 8 y c.1708G>C/N en el exón 12 no reportada en el gen de IDUA desarrolló un fenotipo clínico de síndrome de Scheie

Mucopolysaccharidoses are a group of lysosomal storage disorders caused by deficiency of enzymes catalyzing the degradation of glycosaminoglycans. Mucopoly-saccharidosis I can present a wide range of phenotypic characteristics with three major recognized clinical entities: Hurler and Scheie syndromes represent phenotypes at the severe and mild ends of the clinical spectrum, respectively, and the Hurler-Scheie syndrome is intermediate in phenotypic expression. These are caused by the deficiency or absence of α-L-iduronidase, essential to the metabolism of both dermatan and heparan sulfate, and it is encoded by the IDUA gene. We report the case of a 34-year-old male patient with enzymatic deficiency of α-L-iduronidase, accumulation of its substrate and a previously unreported mutation in the IDUA gene that developed a phenotype of Scheie syndrome.

Las mucopolisacaridosis son un grupo de trastornos de almacenamiento lisosomal causada por la deficiencia de enzimas que catalizan la degradación de glicosaminoglicanos. La mucopolisacaridosis tipo I puede presentar un amplio rango de características fenotípicas englobadas en tres entidades clínicas reconocidas: los síndromes de Hurler y Scheie representan los fenotipos graves y leves del espectro clínico, respectivamente y el síndrome de Hurler-Scheie intermedio en la expresión fenotípica. Estos son causados por la deficiencia o ausencia de la α-L-iduronidasa esencial para el metabolismo del dermatán y el heparán sulfato y es codificada por el gen IDUA. Se presenta el caso de paciente masculino de 34 años de edad con deficiencia enzimática de α-L-iduronidasa, acumulación de su sustrato y una mutación en el gen IDUA, no reportada previamente, que desarrolló un fenotipo del síndrome de Scheie.

Síndrome de Lynch: selección de pacientes para el estudio genético mediante análisis de inestabilidad microsatelital e inmunohistoquímica / Lynch syndrome: selection of families by microsatellite instability and immunohistochemistry

Background: Selection of patients with Lynch Syndrome (LS) for a genetic study involves the application of clinical criteria. To increase the rate of identification of mutations, the use of molecular studies as Microsatellite Instability (MSI) and Im-munohistochemistry (IHC) in the tumor has been proposed. Aim: To demonstrate the usefulness of MSI and IHC in the detection of mutations in patients with LS. Material and Methods: From our Familial Colorectal Cancer Registry, families suspected of LS were selected according to Amsterdam or Bethesda clinical criteria. Screening of germline mutations of MLH1, MSH2 and MSH6 genes was performed. In addition, analysis of MSI and IHC were performed in colorectal tumors. Results: A total of 35 families were studied (19 met Amsterdam and 16 met Bethesda criteria). Twenty one families harbored a germline alteration in MLH1, MSH2 or MSH6 (18 Amsterdam and 3 Bethesda). In these families, eighteen different alterations were found, 15 of which were mutations and 3 corresponded to variants of uncertain pathogenicity. On the other hand, 80% of the tumors showed positive microsatellite instability (27 MSI-high and 1 MSI-low), and immunohistochemical testing showed that 77% of tumors had the loss of a protein. Correlation between results of tumor molecular studies and the finding of germline nucleotide change showed that IHC and MSI predicted mutations in 81 and 100% of patients, respectively. Conclusions: MSI and IHC can efficiently select patients with a high probability of carrying a mutation in DNA repair genes.

Programa de detección de neoplasias colorrectales en población mayor de 50 años / A screening program for colorectal cancer in Chilean subjects aged fifty years or more

Background: Mortality from colorectal cancer (CCR) in Chile has nearly doubled over the past 15 years. International studies have shown that CCR screening programs based on fecal occult blood test (FOBT) reduce CCR mortality. Aim: To analyze the results from a CCR screening model in people over 50 years. Material and Methods: Between 2007 and 2009, a prospective multicenter study was performed in seven major Chilean cities. FOBT using an immunological method, was measured in asymptomatic subjects aged 50 years or more, without risk factors. In patients with a positive FOBT, with symptoms or with family risk factors, a colonoscopy was indicated. Results: A total of 6348 subjects were assessed, FOBT was performed in 4938 of them, with a compliance of 77%. The result was positive in 9.6%. A total of 2359 colonoscopies were ordered, with an overall compliance of 50.1%. Of the 1184 colonoscopies performed, adenomas and high risk adenomas were found in 304 (26%) and 75 (6%) patients, respectively. Thirteen patients were diagnosed with stage I and IICCR. Three of these lesions were excised endoscopically and 10 surgically. The detection rate of polyps, high risk adenomas and cancer was 75, 12 and 2 per 1000 screened individuals, respectively. Conclusions: This program allowed the early detection of an important number of high risk colon lesions, and all patients with CCR were diagnosed at early stages.

Potenciales cerebrales relacionados a feedback en el estudio del aprendizaje y la toma de decisiones económicas / Brain Potentials Related to Feedback on the Study of Learning and Economic Decision Making

Investigaciones con Potenciales Relacionados a Eventos han demostrado la existencia de un componente llamado Negatividad Relacionada a Retroalimentación de Error, el cual ha sido referido como una deflexión negativa que distingue entre ganancias y pérdidas, en tanto resultados esperados y no esperados respectivamente. Así, mientras algunos estudios han operacionalizado la idea de resultado esperado como la probabilidad de ganar vs. Perder, otros lo han hecho como la magnitud esperada de las recompensas. Hasta ahora existe poca investigación tendiente a observar cómo estas interpretaciones alternativas de "resultado esperado", o su interacción en términos de un modelo de "valor esperado" que las integre, afectan la Negatividad Relacionada a Retroalimentación de Error. El presente trabajo contextualiza el estudio de los mecanismos cerebrales asociados a la toma de decisiones, situando los estudios de Negatividad Relacionada a Retroalimentación de Error en su contexto teórico, revisa las dos tendencias de estudio desarrolladas hasta la fecha y explora posibilidades de ampliación del estudio de este componente en el contexto del naciente campo transdisciplinario de la neuroeconomía.

Studies using Event-Related Potentials have shown the existence of a component called Feedback Error-Related Negativity (fERN). This component has been characterized as a negative deflection which responds differentially to profits and losses in terms of expected and unexpected outcomes. Thus, while some studies have defined the idea of "expected outcome" as the probability to win vs. to lose, others have defined it as the expected size of rewards. How these alternative interpretations of "expected outcome" affect the fERN's research, and the effects of their interaction under a specific model of "expected value" has not been properly assessed. This work contextualizes the general study of neural mechanisms involved in decisionmaking processes, putting the fERN studies in context; besides, it reviews the two main approaches to its research; and finally, it explores the possibilities to further expand the fERN studies, in the context of the transdisciplinary rising field of neuroeconomics.

Composition of the essential oil of leaves and roots of Allium schoenoprasum L. (Alliaceae) / Composición del aceite esencial de hojas y raíces de Allium schoenoprasum L

Essential oil from leaves and roots of Allium schoenoprasum L. (Alliaceae) were analyzed by GC/MS. The oils extracted by hydrodistillation yielded 0.02 percent and 0.03 percent for leaves and roots, respectively. Five (99.12 percent leaves) and four (98.32 percent roots) components were identified being bis-(2-sulfhydryethyl)-disulfide (72.06 percent leaves, 56.47 percent roots) the major constituent on the two oil samples while 2,4,5-trithiahexane (5.45 percent leaves, 15.90 percent roots) and tris (methylthio)-methane (4.01 percent leaves, 12.81 percent roots) were detected in lower amounts.

Los aceites esenciales de hojas y raíces de Allium schoenoprasum L. (Alliaceae fueron analizados por CG/EM. La extracción por hidrodestilación mostró un rendimiento de 0.02 por ciento y 0.03 por ciento para las hojas y raíces, respectivamente. Cinco (99.12 por ciento hojas) y cuatro (98.32 por ciento raíces) compuestos fueron identificados siendo el bis-(2-sulfidietil)-disulfuro (72.06 por ciento hojas, 56.47 por ciento raíces) el compuesto mayoritario en los dos aceites mientras que 2,4,5-tritiahexano (5.45 por ciento hojas, 15.90 por ciento raíces) y tris (metilthio)-metano (4.01 por ciento hojas, 12.81 por ciento raíces) fueron observados en menores cantidades.

Atrofia muscular espinal: Caracterización clínica, electrofisiológica y molecular de 26 pacientes / Clinical, electrophysiological and molecular study of 26 chilean patients with spinal muscular atrophy

Background: Spinal Muscular Atrophy (SMA) is an autosomal recessive disorder affecting the anterior horn cells of the spinal cord resulting in muscle weakness and atrophy, linked to the homozygous disruption of the survival motor neuron 1 (SMN1) gene. It is the leading genetic cause of infant death. It has been classified into three types based on the severity of symptoms. Type I SMA is the most severe form with death within the first 2 years of life. Type II and III SMA patients show intermediate and mild forms of the disorder. Aim: To describe the clinical and electrophysiological findings of 26 Chilean patients with SMA with molecular confirmation. Patients and Methods: Retrospective multicenter analysis of patients with SMA assessed between 2003 and 2010. The diagnosis was suspected on clinical and electrophysiological criteria. Since 2006 molecular genetics confirmation was implemented in one of our centers. Results: Twenty-six patients between 2 months and 18 years of age at presentation were analyzed; 15 (58 percent) were males. SMA I, II and III clinical criteria were observed in 4 (15.4 percent), 11 (42.3 percent) and 11 (42.3 percent)patients, respectively. All had proximal muscle weakness and atrophy. Electromyography showed features of acute denervation or re-innervation with normal motor and sensory nerve conduction. Nine patients required a muscle biopsy. The genetic confirmation of the disease by PCR technique followed by restriction fragment length polymorphism method disclosed the SMN1 gene deletion in all 26 cases. All patients died secondary to respiratory failure, between eight and 14 months of life. Conclusions: An adequate clinical and molecular diagnosis of spinal muscular atrophy will help for a better management of these patients.

Trasplante simultáneo de páncreas y riñon en diabetes mellitus tipo 1: Experiencia de un centro en Chile / Simultaneous kidney and pancreas transplantation (SKPT) in patients with type 1 diabetes and chronic renal failure: Experience in 12 patients in Chile

Background: Simultaneous kidney and páncreas transplantation (SKPT) is the best alternative for end stage renal disease among patients with insulin dependent diabetes mellitus. Aim: To report our experience with SKPT. Material andMethods: Retrospective analysis ofl2 recipients of SKPT transplanted in one center starting in 1994, with a meanfollow-upperiod of6.8years (2-15). Results: Eleven ofl2 recipients were in chronic hemodialysis before SKPT. Mean A, B, DR and HLA mismatch was 4.3. Mean preformed anti HLA antibodies was 3.3 percent. Mean cold ischemia times for páncreas and kidney were 6 and 10 hours, respectively. In the first eight cases, the páncreas was drained to the bladder, and in the last four, an enteric drainage was performed. Eleven recipients were induced with antibodies, and maintenance immunosuppression consisted ofCyclosporine or Tacrolimusplus an antiproliferative agent. Ten year patient survival was 70 percent. Páncreas and kidney survival, defined by insulin and dialysis independence, were 72 and 73 percent respectively. Fifty percent of recipients experienced acute graft rejection (cellular or humoral), with good response to treatment except in one case. Conclusions: This experience shows that SKPT is associated with an excellent patient survival associated to insulin and dialysis independence in 70 percent of patients at 10 years.