Infección congénita por citomegalovirus, hipoacusia y tamizaje neonatal. Una actualización / Congenital cytomegalovirus infection, hearing loss and newborn screening. An update

El citomegalovirus congénito (CMVc) es la infección congénita más común y la principal causa no genética de hipoacusia congénita. Gran parte de los recién nacidos (RN) con CMVc sintomático desarrolla secuelas graves permanentes, donde la hipoacusia es la más frecuente. Sin embargo, el 90% de los casos se presenta en forma asintomática, pudiendo desarrollar secuelas auditivas tardías. El diagnóstico precoz de CMVc requiere un alto índice de sospecha. Actualmente, técnicas eficientes para su detección están disponibles, lo que facilita el diagnóstico en las primeras 3 semanas de vida. La terapia antiviral es la primera línea de tratamiento para el CMVc sintomático, logrando buenos resultados auditivos. A pesar de los avances en los métodos de detección y beneficios del tratamiento, los RN no son tamizados para CMVc. El tamizaje selectivo de CMVc en pacientes que no pasan el screening auditivo facilita la intervención precoz en los casos identificados, pero no permite detectar el número significativo de niños que presenta hipoacusia de aparición tardía. El tamizaje universal permite hacer seguimiento auditivo a los pacientes en riesgo de desarrollar hipoacusia sensorioneural (HSN) por CMVc, identificando así los casos de hipoacusia de aparición tardía, pero la costo-efectividad es aún controversial. Es necesario avanzar en una estrategia local para el tamizaje de CMVc, buscando reducir su impacto a nivel nacional.

Congenital cytomegalovirus (cCMV) is the most common congenital infection and the main non-genetic cause of congenital hearing loss. A significant number of newborns (NB) with symptomatic cCMV will develop permanent serious sequelae, being hearing loss the most frequent. However, 90% of the cases are asymptomatic and may develop late auditory sequelae. Early diagnosis of cCMV requires a high index of suspicion. Currently, efficient detection techniques for its detection are available, which facilitates diagnosis within the first 3 weeks of life. Antiviral therapy is the first line of treatment for symptomatic cCMV, achieving good hearing results. Despite advances in detection methods and the benefits of antiviral therapy, NB are not routinely screened for cCMV. Selective screening for cCMV in patients who fail newborn hearing screening facilitates early intervention in identified cases but fails to detect a significant number of children with late onset hearing loss. Universal screening allows hearing follow up in patients at risk of developing sensorineural hearing loss (SNHL) due to cCMV, thus identifying late-onset hearing loss cases, but cost-effectiveness is still controversial. It is necessary to advance in a local strategy for cCMV screening, aiming to reduce its national impact.

How were DTP-related adverse events reduced after the introduction of an acellular pertussis vaccine in Chile?

OBJECTIVES: To describe the trend in the frequency of adverse events (AE) records associated to pertussis component vaccines between January 1st, 2015 and June 30th, 2020 in infants younger than 2-years-old in Chile, by reviewing the records submitted to the AEFI NIP, stratified by DTP-vaccine type, wP or aP. MATERIALS AND METHODS: This was a retrospective observational study including all AEFI records of DTP (either aP or wP)-containing vaccines in the described sample. A descriptive analysis was performed according to vaccine type and AEFI, using MedDRA terminology. RESULTS: The total number of AEFI reports was 1,697: 815 corresponding to wP vaccines, 417 to aP vaccines, and 465 with unknown type. The reporting rates for the years 2015 to 2020 were 40.1, 56.2, 37.1, 24.7, 19.1, and 12.2 per 100,000 doses administered, respectively. The most reported AEFI were injection site erythema (42.9%), pyrexia (35.7%), and pain at the injection site (29.2%). Among all cases, 5.8% were SAEs (n = 98), 5.9% were SAEs for wP vaccines (n = 48) and 5.3% were for aP vaccines (n = 22). DISCUSSION: A significant decrease in AEFI reports was observed as of 2018, the year that the DTaP-IPV-HepB-Hib was introduced in the NIP.

Manejo de los nódulos pulmonares subsólidos: resultados quirúrgicos basados en algoritmo local / Pulmonary subsolid nodules: surgical outcomes based on institutional algorithm

INTRODUCCIÓN: en la actualidad no existe un consenso respecto al manejo de los nódulos pulmonares subsólidos (NPSS). OBJETIVO: describir los resultados del manejo quirúrgico de los NPSS, basados en un algoritmo local. MATERIAL Y MÉTODOS: estudio descriptivo de corte transversal. Se revisaron las fichas clínicas electrónicas de los pacientes operados por NPSS, sugerentes de ser malignos, a juicio de un equipo multidisciplinario, entre enero de 2014 y enero de 2018, en el Departamento de Cirugía de Adultos de Clínica Las Condes. RESULTADOS: se estudió un total de 35 pacientes. La edad promedio fue de 65,8 años. El tamaño promedio de los nódulos fue de 15 mm. Todos los pacientes fueron abordados por cirugía videotoracoscópica asistida. El 88,6% de las biopsias demostró la presencia de una neoplasia maligna. CONCLUSIONES: la adopción de un algoritmo local, instituido por un equipo multidisciplinario, es una alternativa para el manejo adecuado de los portadores de NPSS.

BACKGROUND: Nowadays, there is no consensus in the management of pulmonary subsolid nodules (SSNs). AIM: describe the results of surgical management of SSNs, based on institutional algorithm. MATERIAL AND METHODS: cross-sectional, descriptive study, with revision of clinical electronic records, that included all patients intervened for SSNs, suggestive of malignancy, by the judgment of a multi-disciplinary team, from January 2014 to January 2018 at the Department of Adult Surgery, Clinica Las Condes. RESULTS: 35 patients were studied. The average age was 65.8 years. The average size of the nodules was 15 mm. All patients were approached by video-assisted thoracoscopic surgery. 88.6% of biopsies turned out to be malignant neoplasm. CONCLUSIONS: the acquisition of a local algorithm established by a multidisciplinary team is an appropriate alternative for the management of the patients with SSNs.

Resultados auditivos del tratamiento quirúrgico de la otoesclerosis en el departamento de otorrinolaringología de la Pontificia Universidad Católica de Chile / Auditory results of surgical treatment of otosclerosis in the department of otolaryngology of the Pontificia Universidad Católica de Chile

RESUMEN Introducción: La otoesclerosis representa la causa de hipoacusia de conducción más común en adultos jóvenes. Las opciones de tratamiento incluyen amplificación mediante audífonos o resolución quirúrgica a través de cirugías como estapedectomía total o parcial, estapedostomía o implante coclear. Objetivo: Describir los resultados del tratamiento quirúrgico de la otoesclerosis en el Departamento de Otorrinolaringología del Hospital Clínico de la Pontificia Universidad Católica de Chile entre los años 1999 y 2018. Material y método: Se realizó un estudio de cohorte no concurrente con revisión de fichas clínicas y protocolos operatorios de pacientes atendidos en nuestro centro. Se registraron y analizaron las características biodemográficas de los pacientes, técnicas quirúrgicas, resultados auditivos, complicaciones, necesidad de reintervención y uso de audífono. Resultados: De un total de 78 pacientes sometidos a estapedectomía parcial (platinectomía parcial) o estapedostomía se incluyeron finalmente 37 quienes tenían datos clínicos completos, lo que corresponde al 47,4% del total. En ambos tipos de cirugía el promedio de gap óseo-aéreo varió de 30,8 dB en el preoperatorio a 13,9 dB en el posoperatorio lo cual es estadísticamente significativo. El promedio de variación de la vía aérea, éste fue mayor en el grupo de pacientes operados de estapedostomía, sin existir diferencias estadísticamente significativas al realizar test no paramétricos. Conclusión: Las características demográficas y los resultados auditivos obtenidos en nuestro centro son comparables con los descritos en la literatura. No existen diferencias significativas en cuanto al tipo de cirugía y la frecuencia y tipo de complicaciones, aunque se observan mejores resultados auditivos en los pacientes operados de estapedostomía.

ABSTRACT Introduction: Otosclerosis represents the most common cause of hearing loss in young adults. Treatment options include amplification with hearing aids or surgical resolution with surgeries such as total and partial stapedectomy, stapedostomy or cochlear implant. Aim: To describe the results of the surgical treatment of otosclerosis in the Otorhinolaryngology Department of the Clinical Hospital of the Pontificia Universidad Católica de Chile between the years 1999 and 2018 Material and method: A non-concurrent cohort study was performed with review of clinical files and operative protocols of patients seen in our center. The biodemographic characteristics of the patients, surgical techniques, auditory results, complications, need for reoperation and use of hearing aid were recorded and analyzed. Results: Of a total of 78 patients undergoing partial stapedectomy or stapedostomy, 37 were finally included, who had complete clinical data, which corresponds to 47.4% of the total. In both types of surgery, the average bone-air gap varied from 30.8 dB in the preoperative to 13.9 dB in the postoperative period, which is statistically significant. Regarding the average of variation of the airway, this was higher in the group of patients operated by stapedostomy without statistically significant differences when performing nonparametric tests. Conclusion: The demographic characteristics and the auditory results obtained in our center are comparable with those described in the literature. There are no significant differences in the type of surgery and the frequency and type of complications, although better hearing results are observed in patients operated by stapedostomy.

Otomastoiditis por mycobacterium tuberculosis: un diagnóstico desafiante / Tuberculous otomastoiditis: a challenging diagnosis

RESUMEN La otomastoiditis tuberculosa es una presentación extremadamente rara de la forma extrapulmonar de la enfermedad y puede ser difícil llegar a su diagnóstico. Presentamos el caso de una paciente de 35 años con otomastoiditis tuberculosa bilateral acompañado de vértigo, hipoacusia mixta bilateral y paresia del nervio facial bilateral, como debut de una tuberculosis. Cultivos de Mycobacterium tuberculosis (MTB) y prueba de reacción en cadena de la polimerasa (PCR) de otorrea fueron inicialmente negativos. La tomografía computarizada de oídos y resonancia magnética mostraron cambios inflamatorios otomastoídeos bilaterales sin evidencia de erosión ósea ni extensión a partes blandas. Se realizó una mastoidotomía, las muestras del tejido obtenido evidenciaron osteomielitis crónica, bacterias ácido-alcohol resistentes y PCR positiva para MTB. La paciente recibió tratamiento con drogas antituberculosas durante 12 meses logrando una recuperación completa de la otalgia y vértigo, y mejoría parcial de audición y paresia facial. En resumen, los hallazgos clínicos e imagenológicos de la otomastoiditis tuberculosa son inespecíficos por lo cual se requiere de un alto índice de sospecha clínica para lograr el diagnóstico adecuado e iniciar el tratamiento de la infección subyacente.

ABSTRACT Tuberculous otomastoiditis is an extremely rare form of extrapulmonary disease that can be easily misdiagnosed. We hereby report the case of a previously healthy 35-yearold female with bilateral tuberculous otomastoiditis associated with vertigo, bilateral mixed hearing loss, and bilateral facial nerve palsy as the initial clinical presentation. Repeated Mycobacterium tuberculosis (MTB) culture and molecular testing of otorrhea aspirates were initially negative. High-resolution temporal bone computed tomography and magnetic resonance imaging showed partial opacification of the mastoid air cells without signs of bone erosion. A mastoidotomy was performed with mastoid tissue showing chronic osteomyelitis, positivity in acid-fast staining and MTB PCR. The patient was treated with a 12 month antituberculous treatment, with complete recovery of otalgia and vertigo, and improvement in hearing levels and facial nerve palsy. In summary, clinical and imaging findings for tuberculous otomastoiditis are non-specific, hence a high degree of suspicion is required in order to diagnose and promptly treat the underlying infection.

Survival of patients with Duchenne muscular dystrophy. / Sobrevida de pacientes con distrofia muscular de Duchenne.

INTRODUCTION: Duchenne muscular dystrophy (DMD) leads to a progressive deterioration of the mus cle function and premature death. There are no longitudinal studies on the course of this pathology in Chile. OBJECTIVE: To determine survival between the years 1993-2013, divided into two periods (1993-2002 and 2003-2013), and the effect of social determinants in patients with DMD admitted in Teleton Institutes of Chile (TI). PATIENTS AND METHOD: Prospective follow-up study in a clinical series of 462 patients with DMD. The information was obtained by searching for patients with DMD in OLAP cube (Online Analytical Processing). From the clinical records of the TI of Santiago, the variables corresponding to the diagnostic method, stage of DMD described in terms of muscle de terioration and function according to Swinyard classification were recorded; existence and type of tests that conclude the diagnosis and, in the cases reported, the existence of family history. Kaplan Meier survival analysis was applied, where global survival was defined between birth and age of death. The determinant factors analyzed were estimated through the Cox-Snell's proportional risk model. RESULTS: Survival at 20 years of age from TI entry was 51.7% (CI95%: 45.1-57.8), 48.5% in the period 1993-2002 and 72.8% between 2003-2013. The percentage of survival at the same age according to socioeconomic status (SES) was 82% in high SES, 67% in middle SES, and 42% in low SES, with a statistically significant difference between high and middle SES in relation to extreme poverty. Ac cording to country areas, the survival was close to 75 % at 17 years of age. CONCLUSIONS: The survival information from patients with DMD from childhood to adult life is valuable for predicting the clinical course of the disease with the current medical care. There is evidence of improvement in the probability of survival at the age of 20 and marked inequity according to the socioeconomic variable.

Sobrevida de pacientes con distrofia muscular de Duchenne / Survival of patients with Duchenne muscular dystrophy

INTRODUCCIÓN: La distrofia muscular de Duchenne (DMD) conduce a un deterioro progresivo de la función muscular y muerte prematura. Los estudios longitudinales sobre el curso de esta patología en Chile, son nulos. OBJETIVO: Determinar sobrevida entre los años 1993-2013, en 2 periodos (1993 2002 y 2003-2013); y efecto de determinantes sociales en pacientes con DMD ingresados a Institutos Teletón Chile (IT). PACIENTES Y MÉTODO: Estudio pronóstico de seguimiento en serie clínica de 462 pacientes portadores de DMD. La información requerida se obtuvo mediante búsqueda de pacientes con DMD en cubo OLAP (On-Line Analytical Processing). De las fichas clínicas del IT-Stgo, se registraron las variables correspondientes al método diagnóstico, etapa de DMD descrito en función al deterioro muscular y funcionamiento mediante Escala Swinyard; existencia y tipo de exámenes que concluyen el diagnóstico y en los casos que se informó, la existencia de antecedentes familiares. Se realizó análisis de sobrevida de Kaplan Meier, donde la sobrevida global se definió entre el nacimiento y edad de muerte. Los factores determinantes analizados fueron estimados a través del modelo de riesgos proporcionales de Cox-Snell. RESULTADOS: La sobrevida a los 20 años de edad desde el ingreso a los IT, fue de 51,7% (IC95%: 45,1-57,8%); en el período 1993-2002 de 48,5% y entre 2003-2013 de 72,8%. El porcentaje de sobrevida a la misma edad, según nivel socioeconómico alto fue de 82%, medio 67% y bajo 42%, diferencia estadísticamente significativa entre nivel alto y medio, respecto de extrema pobreza. Según zonas del país, la sobrevida fue cercana al 75% a los 17 años de edad. CONCLUSIONES: La información de sobrevida aportada en pacientes con DMD desde la infancia hasta la vida adulta, es valiosa para predecir el curso clínico de la enfermedad con la atención médica actual. Se evidencia mejoría en la probabilidad de sobrevida a los 20 años e inequidad pronunciada según variable socioeconómica.

INTRODUCTION: Duchenne muscular dystrophy (DMD) leads to a progressive deterioration of the mus cle function and premature death. There are no longitudinal studies on the course of this pathology in Chile. OBJECTIVE: To determine survival between the years 1993-2013, divided into two periods (1993-2002 and 2003-2013), and the effect of social determinants in patients with DMD admitted in Teleton Institutes of Chile (TI). PATIENTS AND METHOD: Prospective follow-up study in a clinical series of 462 patients with DMD. The information was obtained by searching for patients with DMD in OLAP cube (Online Analytical Processing). From the clinical records of the TI of Santiago, the variables corresponding to the diagnostic method, stage of DMD described in terms of muscle de terioration and function according to Swinyard classification were recorded; existence and type of tests that conclude the diagnosis and, in the cases reported, the existence of family history. Kaplan Meier survival analysis was applied, where global survival was defined between birth and age of death. The determinant factors analyzed were estimated through the Cox-Snell's proportional risk model. RESULTS: Survival at 20 years of age from TI entry was 51.7% (CI95%: 45.1-57.8), 48.5% in the period 1993-2002 and 72.8% between 2003-2013. The percentage of survival at the same age according to socioeconomic status (SES) was 82% in high SES, 67% in middle SES, and 42% in low SES, with a statistically significant difference between high and middle SES in relation to extreme poverty. Ac cording to country areas, the survival was close to 75 % at 17 years of age. CONCLUSIONS: The survival information from patients with DMD from childhood to adult life is valuable for predicting the clinical course of the disease with the current medical care. There is evidence of improvement in the probability of survival at the age of 20 and marked inequity according to the socioeconomic variable.

[Is abortion a serious public health problem in Chile in the field of maternal-perinatal health?] / Aborto, ¿es un problema de salud pública en Chile en el campo de la salud materno-perinatal?

BACKGROUND: The World Health Organization, by 2014, estimates that approximately 22 million unsafe abortions take place every year in the world, almost all of them in developing countries. The Millennium Goals, as part of the fifth compendium, focused on maternal health by proposing that member states should reduce maternal mortality to 75% by 2015. AIM: To determine, using maternal health indicators, if abortion in Chile is a priority health problem. MATERIAL AND METHODS: Data about maternal mortality and its causes between 1982 and 2014, was obtained from the databases available at the Chilean Ministry of Health. Trend analyzes were carried out using linear autoregressive models. RESULTS: Between 1982 and 2012, maternal mortality rates decreased from 51.8 to 18.3 per 100,000 live births. Complications of pregnancy, childbirth and puerperium were the first three causes and the last one is abortion. The proportion of abortions due to unspecified causes, including induced abortion, decreased from 36.6% to 26.1% between 2001 and 2012. CONCLUSIONS: Abortion is not a public health problem in Chile. To continue reducing maternal mortality, programs for the early detection of risks such as diabetes, obesity and hypertension should be implemented.

Escala de la calidad del desempeño sensoriomotor de bebés de 2 a 15 meses de edad: ECDSM2-15 / The sensory-motor quality performance scale from 2-15 months

The Sensory Motor Performance Quality Scale of babies from 2 to 15 months of age, detected with delayed motor development, or at risk or with cerebral palsy, is presented and its application exemplified through a case corresponding to the sixth month the subscale.

Se presenta la Escala de la Calidad del Desempeño Sensoriomotor de bebés de 2 a 15 meses de edad, detectados con retraso del desarrollo psicomotor, o diagnosticados en riesgo o con parálisis cerebral. Se ejemplifica su aplicación a través de un caso correspondiente a la subescala del sexto mes.

Aborto, ¿es un problema de salud pública en Chile en el campo de la salud materno-perinatal? / Is abortion a serious public health problem in Chile in the field of maternal-perinatal health?

Background: The World Health Organization, by 2014, estimates that approximately 22 million unsafe abortions take place every year in the world, almost all of them in developing countries. The Millennium Goals, as part of the fifth compendium, focused on maternal health by proposing that member states should reduce maternal mortality to 75% by 2015. Aim: To determine, using maternal health indicators, if abortion in Chile is a priority health problem. Material and Methods: Data about maternal mortality and its causes between 1982 and 2014, was obtained from the databases available at the Chilean Ministry of Health. Trend analyzes were carried out using linear autoregressive models. Results: Between 1982 and 2012, maternal mortality rates decreased from 51.8 to 18.3 per 100,000 live births. Complications of pregnancy, childbirth and puerperium were the first three causes and the last one is abortion. The proportion of abortions due to unspecified causes, including induced abortion, decreased from 36.6% to 26.1% between 2001 and 2012. Conclusions: Abortion is not a public health problem in Chile. To continue reducing maternal mortality, programs for the early detection of risks such as diabetes, obesity and hypertension should be implemented.

Funcionalidad manual en niños y adolescentes con discapacidad neuro-músculo-esquelética: resultados con pauta Bilan 400 points modificada / Hand functionality in children and adolescents with neuromusculoskeletal disabilities: results using modified Bilan 400 points scale

Cerebral palsy (CP) and other diseases cause different levels of dysfunction in the ability to grasp or grip with the hands. Modified and validated Bilan 400 points scale (PBM-400) helps to assess these functions. Objective: To determine the characteristics of hand function in children and young people with neuromotor disabilities according to gender, age, diagnosis and level using functional PBM-400. Patients and Methods: Descriptive and cross-sectional study on 138, 7 to 17 year-old patients with CP (diplegia, hemiparesis), obstetric brachial palsy (OBP) and others; with mild or moderate functional impairment, receiving treatment at Instituto Teletón in Santiago, Chile. Nine trained occupational therapists apply PBM-400 in standardized conditions, assessing hand mobility, grasp and/or movement, functional activities and grip strength with dynamometer, vigorimeter and pinch gauge. Result: 62.5 percent of diplegia patients and 100 percent of the patients with polyneuropathy, showed right laterality. According to functional impairment, right laterality prevails. Grip strength showed the lowest performance in all diagnoses, whereas in cases with prevalence of right-hand laterality it was functional activities. Significant differences in hand functionality were recorded depending on diagnosis and functional impairment, regardless of laterality. Age and gender do not affected hand functionality in the overall of children with various diagnoses. Conclusions: The modified Bilan 400 points scale helps to distinguish hand function depending on laterality, diagnose and functional impairment, becoming a generic scale for therapeutic decision making.

Introducción: La parálisis cerebral (PC) y otras patologías, implican diversos grados de disfunción en la ejecución de alcances y prensiones de las manos. La pauta Bilan 400 points modificada y validada (PBM-400), permite evaluar esas funciones. Objetivo: Determinar las características de la función manual en niños y jóvenes con discapacidad neuromotora según sexo, edad, diagnóstico y compromiso funcional, mediante PBM-400. Pacientes y Método: Estudio descriptivo, transversal en 138 pacientes de 7 a 17 años de edad, con PC (diplejía, hemiparesia) parálisis braquial obstétrica (PBO) y otros; con compromiso funcional leve o moderado, atendidos en el Instituto Teletón Santiago-Chile. Nueve terapeutas ocupacionales entrenados, aplican PBM-400 en condiciones estandarizadas, evaluando movilidad manual, prensión y/o desplazamiento, actividades funcionales y fuerza prensora con dinamómetro, vigorímetro y pinzómetro. Resultados: El 62,5 por ciento de los pacientes con diplejía y el 100 por ciento de los pacientes con polineuropatías, registran lateralidad derecha. Según compromiso funcional, predomina lateralidad derecha. La dimensión de menor rendimiento fue fuerza prensora para todos los diagnósticos y en los casos con predominio de lateralidad manual derecha, fue la dimensión de actividades funcionales. Se registraron diferencias significativas de funcionalidad de mano según diagnóstico y compromiso funcional, independiente de lateralidad. La edad y sexo no influyen en funcionalidad manual en el conjunto de niños con diversos diagnósticos. Conclusiones: La pauta Bilan 400 puntos modificada, logra discriminar significativamente la funcionalidad manual según lateralidad, diagnóstico y compromiso funcional, constituyéndose en una escala genérica para la toma de decisiones terapéuticas.

[Association between the decline in global fertility rate and the incorporation of women to the workforce]. / Tendencia de la tasa global de fecundidad y el aumento de la fuerza laboral femenina en Chile. 1960-2011.

BACKGROUND: The global fertility rate (GFR) is defined as the mean number of children that a woman could have in a hypothetical cohort, not exposed to death during the fertile period. GFR has fallen from 3.4 to 1.9 children per women in the period 1970-2010. AIM: To explore the relationship between the fall in GFR and the incorporation of women to work in the period 1960-2011. MATERIAL AND METHODS: Data from the National Statistics Institute was used. GRF was calculated using specific fertility rates for each year considering women aged 15 to 49 years. Work rates were obtained from yearly vital statistics reports. RESULTS: Between 1960 and 2011, GRF decreased from 5.5 to 1.9 in Chile. The first inflection occurred in 1970. In the same period, female workforce increased from 22.4 to 40.2%. CONCLUSIONS: To motivate the participation of female work-force without decrease the GRF allowing population replacement, it is suggested the need to create new public policies with benefits and support from the state.

Tendencia de la tasa global de fecundidad y el aumento de la fuerza laboral femenina en Chile. 1960-2011 / Association between the decline in global fertility rate and the incorporation of women to the workforce

Background: The global fertility rate (GFR) is defined as the mean number of children that a woman could have in a hypothetical cohort, not exposed to death during the fertile period. GFR has fallen from 3.4 to 1.9 children per women in the period 1970-2010. Aim: To explore the relationship between the fall in GFR and the incorporation of women to work in the period 1960-2011. Material and Methods: Data from the National Statistics Institute was used. GRF was calculated using specific fertility rates for each year considering women aged 15 to 49 years. Work rates were obtained from yearly vital statistics reports. Results: Between 1960 and 2011, GRF decreased from 5.5 to 1.9 in Chile. The first inflection occurred in 1970. In the same period, female workforce increased from 22.4 to 40.2%. Conclusions: To motivate the participation of female work­force without decrease the GRF allowing population replacement, it is suggested the need to create new public policies with benefits and support from the state.

Percepciones sobre la discapacidad de jóvenes usuarios de Teletón Santiago y Concepción: un estudio cualitativo / Perception of disability by Teletón patients from Santiago and Concepcion: a qualitative study

To describe the perception about disability of active and passive young patients from Teletón Institutes in Santiago and Concepcion. Methods: A phenomenological qualitative study of descriptive exploratory character, with intentional sample constituted by 37 participants, corresponding to young active and passive patients from Teletón Institutes in Santiago and Concepcion. Production data was carried out through focus groups and a qualitative content analysis by Atlas. ti software Results: Disability is perceived as a condition of difference and a social phenomenon, which can be considered either positively or negatively. Participants associate disability with socio-cultural problems such as unknowingness, lack of opportunities and discrimination, limited physical accessibility, educational system's difficulties and problems related to disabled people themselves such as psychological problems. The solution to these problems involves action at different levels, with focus in social, political, and educational solutions but also, solutions coming from people with disabilities. Discussion: Disability is a multidimensional phenomenon, perceived according to the experiences and the context in which young people live; meanings related to the medical and social models of disability coexist in them. Although this condition is viewed as mainly positive, problems associated with it were identified, which hinder patient’s daily life and development, as it also affects the family members and loved ones. Solving these problems is essential to promote the participation and inclusion of people with disabilities into society...

Describir las percepciones sobre discapacidad de jóvenes usuarios activos y pasivos, de los Institutos Teletón Santiago y Concepción. Materiales y Método: Estudio cualitativo fenomenológico, de carácter exploratorio-descriptivo, con muestra intencionada constituida por 37 jóvenes usuarios activos y pasivos de los Institutos Teletón Santiago y Concepción. La producción de datos se realizó a través de grupos focales y un análisis de contenido cualitativo, mediante el software Atlas.ti. Resultados: La discapacidad es percibida como una condición de diferencia y un fenómeno social, que puede ser considerada positiva y negativamente. Los participantes asocian a la discapacidad problemas socioculturales, como el desconocimiento, la falta de oportunidades y la discriminación, problemas de accesibilidad física, problemas en el sistema educativo y aquellos relacionados con las propias personas en situación de discapacidad, problemas psicológicos, por ejemplo. La solución a estos problemas, implica acciones a distintos niveles, principalmente, en las aristas sociales, políticas, educativas y soluciones provenientes desde las propias personas en esta situación. Discusión: La discapacidad es un fenómeno multidimensional, percibido de acuerdo a las vivencias, experiencias y el contexto en que viven los jóvenes; coexistiendo en ellos significados relacionados a los modelos médico y social de la discapacidad. A pesar de que esta condición es considerada principalmente de forma positiva, se identifican problemas asociados a ellas que dificultan su vida cotidiana y su desarrollo, afectando también a sus familias y personas cercanas. Dar solución a estos problemas, resulta fundamental para favorecer la participación e inclusión de las personas en situación de discapacidad a la sociedad...

Distrofia muscular de Duchenne: incidencia, prevalencia, características sociodemográficas y clínicas de pacientes ingresados a Teletón Chile desde 1993 a 2013 / Duchenne muscular dystrophy: incidence, prevalence, sociodemographic and clinical characteristics of patients admitted to Teletón Chile from 1993 to 2013

Duchenne muscular dystrophy (DMD) in their natural evolution leads to loss of ambulation between 7 and 13 years of age and death in adolescence close to 20 years. The estimated global incidence is of 1/3,500 male births; data in Chile is unknown. Objective: To estimate the incidence, prevalence of DMD and to describe clinical and sociodemographic characteristics of patients admitted to Teletón-Chile between 1993 and 2013. Patients and Method: A descriptive, retrospective, longitudinal study with review of medical records and database at Teletón. 462 DMD patients were admitted during the study period. Results: The incidence and prevalence in Teletón was of 1/6,558 male live births and the prevalence of 11.51 [CI 10.46 to 12.56] 105 men < 30 years. The average age of first consultation was 6.7 +/- 3.4 years, with mild or moderate functional level (65.6 percent). At the end of the study 67 percent were wheelchair users, with medical prescription at 10.8 +/- 3.3 years. 52.2 percent of patients were classified as extreme poverty, attended at Teletón centers of the central region (55.2 percent), and current average age of 14.7 +/- 5.7 years. 35.9 percent of DMD patients were dead at an average age of 18.1 +/- 3.5 years. Conclusion: The incidence and prevalence rates of DMD live births for males < 30 years admitted to Teletón, have declined between 1993-2011; as well as the average age of first consultation. The loss of ambulation and the average age of death are comparable with the current literature...

La distrofia muscular de Duchenne (DMD) en su evolución natural, produce pérdida de deambulación entre los 7 y 13 años de edad y la muerte en la adolescencia cercana a los 20 años. La incidencia mundial se estima de 1/3.500 nacimientos masculinos; en Chile se desconoce su magnitud. Objetivo: Estimar tasas de incidencia, prevalencia de DMD y describir características clínicas y sociodemográficas de pacientes ingresados a Institutos Teletón-Chile (IT) entre 1993 y 2013. Pacientes y Método: Estudio descriptivo, retrospectivo, longitudinal, con revisión de fichas clínicas y base de datos de IT. Se identificaron 462 pacientes con DMD, ingresados en el período estudiado. Resultados: La tasa de incidencia en IT fue de 1/6.558 nacidos vivos masculinos y prevalencia de 11,51 [IC: 10,46-12,56] por 105 varones < 30 años. Edad media de primera consulta: 6,7 +/- 3,4 años, con compromiso funcional leve o moderado (65,6 por ciento); al término del estudio el 67 por ciento eran usuarios de silla de ruedas, con prescripción médica a los 10,8 +/- 3,3 años. 52,2 por ciento de los pacientes de extrema pobreza, atendidos en IT zona central del país (55,2 por ciento), edad promedio actual de 14,7 +/- 5,7 años. El 35,9 por ciento estaban fallecidos, a la edad promedio de 18,1 +/- 3,5 años. Conclusión: Las tasas de incidencia y prevalencia de DMD para los nacidos vivos varones < 30 años ingresados a los IT, han disminuido entre 1993-2011; también la edad promedio de primera consulta. La pérdida de la marcha y la edad media de la defunción, son comparables con la literatura...

[Sociodemographic and clinical characteristic of the population attended in the Instituto Teletón de Santiago]. / Caracterización sociodemográfica y clínica de la población atendida en el Instituto Teletón de Santiago.

UNLABELLED: The Institutos Teletón care for 85% of the Chilean child population with neuromusculoskeletal disability, the large percentage concentrating in this population. However, there are no registers that enable a profile to be determined on this population. OBJECTIVE: To determine the profile of patients attending the Instituto Teletón de Santiago during the year 2012. PATIENTS AND METHOD: The sociodemographic characteristics were analyzed from the computerised records of the Instituto Teletón de Santiago on active patients who were seen during the year 2012. RESULTS: A total of 8,959 patients were seen during the study year in the Instituto Teletón de Santiago. As regards socioeconomic level, 33.3% were in extreme poverty, 28.7% to low-middle level. The main clinical diagnoses were cerebral palsy and other encephalopathies that also lead to motor disability, and accounted for 55.4% of the cases. CONCLUSIONS: As a result of determining this profile, it would be appropriate to encourage the need for a national register of the child population with disability, as well as their particular characteristics in order to make decisions on public policy, as a destination for funds or support programs.

Dolor fantasma en niños y jóvenes amputados adquiridos: prevalencia y características clínicas / Phantom pain in children and teenagers with acquired amputations: prevalence an clinical features

Introducción: El dolor fantasma es una condición frecuente en pacientes amputados lo que genera discapacidad importante. En población adulta se estima una prevalencia entre 49-82 por ciento. Existe escasa evidencia de la incidencia y prevalencia en población de niños y adolescentes. Objetivos: Estimar la incidencia y la prevalencia del dolor fantasma en la población de amputados adquiridos del Instituto Teletón (IT) de Santiago de 10 años y más; caracterizar a esta población y asociar distintos factores clínicos y demográficos con la presencia de este dolor. Pacientes y Métodos: Estudio descriptivo de incidencia y prevalencia basado en la revisión de fichas clínicas para la obtención de datos demográficos, clínicos y evaluación de registro de dolor fantasma. Se aplicó encuesta telefónica a pacientes de 10 años o más, con diagnóstico de una o más amputación/es adquirida/s, que se atiendan o hayan sido atendido en IT Santiago hasta el año 2013. Resultados: La incidencia de dolor fantasma en la población estudiada es de 11 por 100 personas/año y prevalencia de 62 por ciento. Se encontraron asociaciones estadísticamente significativas, entre la presencia de dolor fantasma y el tiempo transcurrido desde la amputación (a mayor tiempo transcurrido, menor dolor) y edad de la amputación (a mayor edad en que se realizó la amputación mayor dolor). Conclusión: El dolor fantasma es un fenómeno frecuente en pacientes amputados adquiridos de 10 años y más atendidos en el IT de Santiago con una prevalencia del 62 por ciento.

Introduction: Phantom pain is a common condition in amputated patients generating significant disability. Prevalence among adult population is estimated at 49-82 percent. There is little evidence of the incidence and prevalence in child and adolescent population. Objectives: To estimate the incidence and prevalence of phantom pain in amputees aged 10 years and older of the Telethon Institute of Santiago; characterize this population and associate different clinical and demographic factors with the presence of phantom pain. Patients and Methods: Study incidence and prevalence based on a review of medical records to obtain demographic and clinical data. In addition a telephone survey was made to patients 10 years or older diagnosed with one or more acquired amputations who are treated or have been treated at Telethon Institute of Santiago until 2013. Results: The incidence of phantom pain in the study population is 11 per 100 persons/year and prevalence is 62 percent. Statistically significant associations were found between the presence of phantom pain variables and time since amputation (the longer the time elapsed, less pain) and age of amputation (the older the age at which major amputation was performed more pain). Conclusion: Phantom pain is a common phenomenon in patients with acquired amputation aged 10 years and older treated at the Telethon Institute of Santiago prevalence being 62 percent.

Caracterización de heridas en pacientes infantiles y juveniles con discapacidad neuro-músculo-esquelética / Characterization of wounds in children and young patients with neuro-musculoskeletal disabilities at Telethon Institute

Introducción: En la literatura existen escasas referencias a heridas en pacientes pediátricos con discapacidad, éstas son principalmente en población adulta. Para implementar medidas de prevención en pacientes infantiles y juveniles con discapacidad, es fundamental conocer sus características y factores asociados. Objetivo: Describir las características socio-demográficas y clínicas de los niños y jóvenes con discapacidad neuro-músculo-esquelética y de sus heridas, atendidos en policlínico de heridas del Instituto Teletón (IT)-Santiago. Método: Evaluación y descripción clínica de las heridas; aplicación de encuesta a pacientes/cuidadores atendidos en el policlínico, desde mayo a noviembre de 2013. Resultados: De los 34 evaluados, 55,9 por ciento son de sexo masculino, con edades entre 4,5 y 27,2 años. El diagnóstico principal corresponde a lesión medular adquirida o congénita en 79,4 por ciento de los casos. Son totalmente dependientes en transferencias y aseo genital el 50 por ciento. Se identificaron 44 heridas en total, 90,9 por ciento corresponden a úlceras por presión; grado II de profundidad en el 45 por ciento. La localización más frecuente fue tobillo-pie con 52,2 por ciento. Un 61,4 por ciento de ellas corresponde a una recidiva de episodio de herida. El 43,2 por ciento se desarrolla en el curso de una hospitalización. 29,5 por ciento de las heridas tiene contacto con elementos ortésicos o calzado no terapéutico. Se obtuvo asociación significativa entre localización y diámetro de la herida (p < 0,036). Conclusiones: En el grupo de pacientes evaluados, que en un 80 por ciento presentan lesiones medulares congénitas o adquiridas, las úlceras de mayor tamaño se concentran significativamente más en zona pelviana, y la localización de las heridas se presenta en forma casi exclusiva, en zona pelviana y tobillo-pie.

Introdution: In the literature there are few references to wounds in pediatric patients with disabilities. For prevention of wounds in pediatric population with disabilities, it is essential to know its characteristics and associated factors. Objective: Describe the socio-demographic and clinical characteristics of wounds in children and young patients with neuro-musculoskeletal disabilities in Santiago Telethon Institute. Method: Assessment and clinical description of injuries; survey application to patients/caregivers attended at Telethon Institute from May to November 2013. Results: Out of 34 patients, 55.9 percent were male, the age ranged between 4.5 and 27.2 years. The main diagnose corresponds to acquired or congenital spinal cord injury (79.4 percent). 50 percent are totally dependent on transfers and genital toilet. Overall 44 wound were identified, 90 percent of which were pressure ulcers; 45 percent classified as grade II. The most common site of injury was ankle-foot area (52.2 percent). 61.4 percent are a recurrence of pressure ulcer; 43.2 percent develops during hospitalization, 29.5 percent of wounds have contact with orthotics or footwear. Significant association was found between location and diameter of the wound (p < 0.036). Conclusions: In the group of patients evaluated, 80 percent have congenital or acquired spinal cord injuries; the greater ulcer sizes are located in the pelvic area, and the location of the wound occurs almost exclusively in the pelvic and ankle-foot area.

Caracterización sociodemográfica y clínica de la población atendida en el Instituto Teletón de Santiago / Sociodemographic and clinical characteristic of the population attended in the Instituto Teletón de Santiago

Los Institutos Teletón atienden al 85% de la población infantil chilena con discapacidad neuro-músculo-esquelética, concentrando el mayor porcentaje de esta población. Sin embargo, no existen registros que permitan caracterizar esta población. Objetivo: Caracterizar la población de pacientes atendidos en el Instituto Teletón de Santiago durante el año 2012. Pacientes y método: Se analizaron las características sociodemográficas de los registros electrónicos del Instituto Teletón de Santiago de los pacientes activos que se atendieron durante el año 2012. Resultados: Durante el año 2012 se atendió un total de 8.959 pacientes en el Instituto Teletón de Santiago. En relación con el nivel socioeconómico, un 33,3% de estos correspondieron a extrema pobreza, y un 28,7% a nivel medio bajo. Con respecto a los diagnósticos clínicos principales se encontró que la parálisis cerebral y otras encefalopatías que también llevan a discapacidad motora concentran el 55,4% de los casos. Conclusiones: Como producto de esta caracterización, sería adecuado fomentar la necesidad de optimizar el registro nacional de la población infantil con discapacidad y sus características particulares, para así poder tomar decisiones de políticas públicas, como destinación de fondos o programas de apoyo.

The Institutos Teletón care for 85% of the Chilean child population with neuromusculoskeletal disability, the large percentage concentrating in this population. However, there are no registers that enable a profile to be determined on this population. Objective: To determine the profile of patients attending the Instituto Teletón de Santiago during the year 2012. Patients and method: The sociodemographic characteristics were analyzed from the computerised records of the Instituto Teletón de Santiago on active patients who were seen during the year 2012. Results: A total of 8,959 patients were seen during the study year in the Instituto Teletón de Santiago. As regards socioeconomic level, 33.3% were in extreme poverty, 28.7% to low-middle level. The main clinical diagnoses were cerebral palsy and other encephalopathies that also lead to motor disability, and accounted for 55.4% of the cases. Conclusions: As a result of determining this profile, it would be appropriate to encourage the need for a national register of the child population with disability, as well as their particular characteristics in order to make decisions on public policy, as a destination for funds or support programs.