ABSTRACT Whether in pre-pregnancy, pregnancy, birth and/or the postnatal and neonatal periods, midwives’ practices are underpinned by humanism. However, in this era of postmodernity, there is an ever-growing need for rehumanization. This article adopts an auto-ethnographic approach in order to undertake a reflective analysis on the humanization of birth based on the practice of midwifery in two different contexts, namely Quebec (Canada) and Chile. In light of the evolution of the profession in these two countries, and the influence of health policies and social movements, there are factors such as the systematic use of technology and the hypermedicalization of reproductive processes which are maintaining women’s ignorance and keeping them from being able to participate in their maternity process. Women’s autonomy and empowerment become a key element for their participation in decisions regarding their maternity, assistance methods, or type of care. Concurrently, midwives’ autonomy is a prerequisite for fully exercising their role in supporting and assisting women in this re-appropriation of their power by means of a comprehensive approach that takes into account psychological and social aspects as well as biomedical ones.

RESUMO Seja na pré-gravidez, na gravidez, no nascimento, seja nos períodos pós-natal e neonatal, as práticas das parteiras são sustentadas pelo humanismo. Entretanto, na atual era de pós-modernidade, há uma necessidade cada vez maior de reumanização. Este artigo adota uma abordagem autoetnográfica, a fim de realizar análise reflexiva sobre a humanização do nascimento baseada na prática da obstetrícia em dois contextos diferentes: Quebec (Canadá) e Chile. À luz da evolução da profissão nestes dois países e da influência das políticas de saúde e dos movimentos sociais, existem fatores, como o uso sistemático da tecnologia e a hipermedicalização dos processos reprodutivos, que estão mantendo as mulheres desinformadas e impedindo-as de participar de seu processo de maternidade. A autonomia e o empoderamento das mulheres tornam-se um elemento-chave para sua participação nas decisões relativas à sua maternidade, métodos de assistência ou tipo de cuidado. Ao mesmo tempo, a autonomia das parteiras é um requisito para o pleno exercício de seu papel de apoio e assistência às mulheres nesta reapropriação de seu poder, por meio de uma abordagem abrangente, que leve em conta tanto aspectos psicológicos e sociais quanto biomédicos.

RESUMO Seja na pré-gravidez, na gravidez, no nascimento, seja nos períodos pós-natal e neonatal, as práticas das parteiras são sustentadas pelo humanismo. Entretanto, na atual era de pós-modernidade, há uma necessidade cada vez maior de reumanização. Este artigo adota uma abordagem autoetnográfica, a fim de realizar análise reflexiva sobre a humanização do nascimento baseada na prática da obstetrícia em dois contextos diferentes: Quebec (Canadá) e Chile. À luz da evolução da profissão nestes dois países e da influência das políticas de saúde e dos movimentos sociais, existem fatores, como o uso sistemático da tecnologia e a hipermedicalização dos processos reprodutivos, que estão mantendo as mulheres desinformadas e impedindo-as de participar de seu processo de maternidade. A autonomia e o empoderamento das mulheres tornam-se um elemento-chave para sua participação nas decisões relativas à sua maternidade, métodos de assistência ou tipo de cuidado. Ao mesmo tempo, a autonomia das parteiras é um requisito para o pleno exercício de seu papel de apoio e assistência às mulheres nesta reapropriação de seu poder, por meio de uma abordagem abrangente, que leve em conta tanto aspectos psicológicos e sociais quanto biomédicos.

ABSTRACT Whether in pre-pregnancy, pregnancy, birth and/or the postnatal and neonatal periods, midwives’ practices are underpinned by humanism. However, in this era of postmodernity, there is an ever-growing need for rehumanization. This article adopts an auto-ethnographic approach in order to undertake a reflective analysis on the humanization of birth based on the practice of midwifery in two different contexts, namely Quebec (Canada) and Chile. In light of the evolution of the profession in these two countries, and the influence of health policies and social movements, there are factors such as the systematic use of technology and the hypermedicalization of reproductive processes which are maintaining women’s ignorance and keeping them from being able to participate in their maternity process. Women’s autonomy and empowerment become a key element for their participation in decisions regarding their maternity, assistance methods, or type of care. Concurrently, midwives’ autonomy is a prerequisite for fully exercising their role in supporting and assisting women in this re-appropriation of their power by means of a comprehensive approach that takes into account psychological and social aspects as well as biomedical ones.

ABSTRACT Introduction: The increase in the older adult population is one of the great demographic changes in Chile, a reason why it is necessary to establish effective therapeutic approaches to prevent falls and, consequently, functional dependence in this age group. Objective: To assess the efficacy of a kinesthetic program for the prevention of falls through lower limb muscle strengthening in adults over 65 years of age with impaired balance, in comparison with the conventional kinesthetic program. Methods: Nonpharmacological randomized clinical trial including an experimental group and a control group, with 25 participants each. The modality of experimental treatment is more educational and participatory than the conventional one. The efficacy of each treatment was assessed based on the variation of static and dynamic balance parameters at the second and third months of treatment (main results). Secondary outcomes included strength, power, and leg-thigh diameter. The efficacy of both programs was assessed using the multilevel model; the variables time and treatment were considered. Results: There were significant improvements in static and dynamic balance parameters with both treatments. The efficacy of the experimental treatment was higher than the conventional one in parameters of muscular power and increase in diameters of both thighs and the left leg. The factor time of treatment contributed significantly to efficacy. Conclusions: Both treatments improve balance parameters, but the experimental treatment is more effective regarding muscle power parameters. With its educational and participatory modality, this treatment could optimize results to prevent falls in the older adult at the primary level of care.

RESUMEN Introducción: El aumento de la población adulta mayor es uno de los grandes cambios demográficos en Chile, por lo que resulta necesario establecer abordajes terapéuticos eficaces para prevenir caídas y, consecuentemente, la dependencia funcional en este grupo etario. Objetivo: Evaluar la eficacia de un programa kinésico de prevención de caídas mediante fortalecimiento muscular de extremidad inferior en adultos mayores de 65 años con alteración del equilibrio, en comparación con el programa kinésico convencional. Métodos: Ensayo clínico aleatorizado no farmacológico, incluyó un grupo experimental y un grupo control con 25 participantes en cada grupo. La modalidad del tratamiento experimental es más educativa y participativa que el convencional. La eficacia de cada tratamiento fue evaluada mediante la variación de parámetros de equilibrio estático y dinámico al segundo y tercer mes de tratamiento (resultados principales). Resultados: Los resultados secundarios fueron: fuerza, potencia y diámetro pierna - muslo. Se evaluó la eficacia de ambos programas por el modelo multinivel, se consideraron las variables tiempo y tratamiento. Resultados: Hubo mejorías significativas en parámetros de equilibrio estático y dinámico con ambos tratamientos. La eficacia del tratamiento experimental fue superior a la del convencional en parámetros de potencia muscular y aumento de diámetros de ambos muslos y pierna izquierda. El factor tiempo de tratamiento aportó significativamente a la eficacia. Conclusiones: Ambos tratamientos mejoran los parámetros de equilibrio, pero el tratamiento experimental es más eficaz sobre parámetros de potencia muscular. Con su modalidad educativa y participativa este tratamiento podría optimizar resultados para prevenir caídas del adulto mayor en el nivel primario de atención.

ABSTRACT Objective The objective of this article is to examine whether the levels of empathy fit the concept of empathic decline. Method This was a non-experimental and cross-sectional study. Two populations of nursing students in two nursing programs were studied: Universidad San Sebastián (Santiago, Chile) and Universidad Mayor (Temuco, Chile). The original data on empathy, assessed by the Jefferson Scale of Empathy, were combined into a single data base. They were then analyzed by means of normality tests and homoscedasticity, Cronbach’s alpha, analysis of variance; the standard deviation of the dependent outcome measure (Sy.x) and the coefficient of determination (R2) were estimated. Results The sample sizes from the two programs were 479 and 277, respectively. It was found that the distributions of the averages over the course of study for empathy (and its components) were constant, and in some cases increased. Conclusion It was found that the distribution of the means of empathy in the nursing students analyzed did not conform to the classical empathic decline observed in other studies. Therefore, it is inferred that the traditional factors identified as causes of empathic erosion were not operating in the same way in the studied context.

RESUMEN Objetivo El objetivo del artículo es analizar si los niveles de empatía se ajustan al concepto de declinación empática. Método Estudio no experimental y transversal. Fueron estudiadas dos poblaciones de estudiantes de enfermería de dos facultades de enfermería: Universidad San Sebastián (Santiago, Chile) y Universidad Mayor (Temuco, Chile). Los datos originales de empatía, evaluados por el Jefferson Scale of Empathy, fueron reunidos en un único grupo y analizados con pruebas de normalidad y homocedasticidad, alfa de Cronbach, análisis de varianza; también fueron estimados el desvío estándar de la medida de resultado dependiente (Sy.x) y el coeficiente de determinación (R2). Resultados Las muestras de las dos facultades constaron de 479 y 277 participantes, respectivamente. Se comprobó que las distribuciones de medias del curso de estudio para empatía (y sus componentes) fueron constantes, y en algunos casos aumentaron. Conclusión Se determinó que la distribución de medias de empatía en los estudiantes de enfermería analizados no se ajusta a la disminución empática clásica observada en otros estudios, infiriéndose que los factores tradicionales considerados como causas de la erosión empática no operan de la misma manera en el contexto estudiado.

RESUMO Objetivo O objetivo do presente artigo é investigar se os níveis de empatia são consistentes com o conceito de declínio de empatia. Método Um estudo não-experimental e transversal foi conduzido com duas populações de alunos de enfermagem de dois programas de enfermagem distintos, da Universidad San Sebastián (Santiago, Chile) e da Universidad Mayor (Temuco, Chile). Os dados originais sobre empatia, avaliados pela Jefferson Scale of Empathy, e reunidos em um único banco de dados. Os dados foram então analisados através de testes de normalidade e homocedasticidade, Cronbach’s alpha e análise de variância. Foram calculados o desvio padrão da variável dependente (Sy.x) e o coeficiente de determinação (R2). Resultados As amostras dos dois programas tiveram 479 e 277 participantes, respectivamente. As distribuições das médias de empatia (e seus componentes) ao longo do curso foram constantes, com um aumento em alguns casos. Conclusão A distribuição das médias de empatia nos alunos de enfermagem estudados não foi consistente com o declínio clássico de empatia observado em outros estudos. Sendo assim, os dados indicam que os fatores tradicionais identificados como causas de erosão empática não funcionam da mesma forma no contexto avaliado.

RESUMO Objetivo O objetivo do presente artigo é investigar se os níveis de empatia são consistentes com o conceito de declínio de empatia. Método Um estudo não-experimental e transversal foi conduzido com duas populações de alunos de enfermagem de dois programas de enfermagem distintos, da Universidad San Sebastián (Santiago, Chile) e da Universidad Mayor (Temuco, Chile). Os dados originais sobre empatia, avaliados pela Jefferson Scale of Empathy, e reunidos em um único banco de dados. Os dados foram então analisados através de testes de normalidade e homocedasticidade, Cronbach’s alpha e análise de variância. Foram calculados o desvio padrão da variável dependente (Sy.x) e o coeficiente de determinação (R2). Resultados As amostras dos dois programas tiveram 479 e 277 participantes, respectivamente. As distribuições das médias de empatia (e seus componentes) ao longo do curso foram constantes, com um aumento em alguns casos. Conclusão A distribuição das médias de empatia nos alunos de enfermagem estudados não foi consistente com o declínio clássico de empatia observado em outros estudos. Sendo assim, os dados indicam que os fatores tradicionais identificados como causas de erosão empática não funcionam da mesma forma no contexto avaliado.

ABSTRACT Objective The objective of this article is to examine whether the levels of empathy fit the concept of empathic decline. Method This was a non-experimental and cross-sectional study. Two populations of nursing students in two nursing programs were studied: Universidad San Sebastián (Santiago, Chile) and Universidad Mayor (Temuco, Chile). The original data on empathy, assessed by the Jefferson Scale of Empathy, were combined into a single data base. They were then analyzed by means of normality tests and homoscedasticity, Cronbach’s alpha, analysis of variance; the standard deviation of the dependent outcome measure (Sy.x) and the coefficient of determination (R2) were estimated. Results The sample sizes from the two programs were 479 and 277, respectively. It was found that the distributions of the averages over the course of study for empathy (and its components) were constant, and in some cases increased. Conclusion It was found that the distribution of the means of empathy in the nursing students analyzed did not conform to the classical empathic decline observed in other studies. Therefore, it is inferred that the traditional factors identified as causes of empathic erosion were not operating in the same way in the studied context.

RESUMEN Objetivo El objetivo del artículo es analizar si los niveles de empatía se ajustan al concepto de declinación empática. Método Estudio no experimental y transversal. Fueron estudiadas dos poblaciones de estudiantes de enfermería de dos facultades de enfermería: Universidad San Sebastián (Santiago, Chile) y Universidad Mayor (Temuco, Chile). Los datos originales de empatía, evaluados por el Jefferson Scale of Empathy, fueron reunidos en un único grupo y analizados con pruebas de normalidad y homocedasticidad, alfa de Cronbach, análisis de varianza; también fueron estimados el desvío estándar de la medida de resultado dependiente (Sy.x) y el coeficiente de determinación (R2). Resultados Las muestras de las dos facultades constaron de 479 y 277 participantes, respectivamente. Se comprobó que las distribuciones de medias del curso de estudio para empatía (y sus componentes) fueron constantes, y en algunos casos aumentaron. Conclusión Se determinó que la distribución de medias de empatía en los estudiantes de enfermería analizados no se ajusta a la disminución empática clásica observada en otros estudios, infiriéndose que los factores tradicionales considerados como causas de la erosión empática no operan de la misma manera en el contexto estudiado.

ABSTRACT Spinal muscular atrophy (SMA) has gained much attention in the last few years because of the approval of the first intrathecal treatment for this neurodegenerative disease. Latin America needs to develop the demographics of SMA, timely access to diagnosis, and appropriate following of the standards of care recommendations for patients. These are essential steps to guide health policies. Methods This was a descriptive study of a cohort of SMA patients from all over Chile. We analyzed the clinical, motor functional, and social data, as well as the care status of nutritional, respiratory and skeletal conditions. We also measured the SMN2 copy number in this population. Results We recruited 92 patients: 50 male; 23 SMA type-1, 36 SMA type-2 and 33 SMA type-3. The median age at genetic diagnosis was 5, 24 and 132 months. We evaluated the SMN2 copy number in 57 patients. The SMA type-1 patients were tracheostomized and fed by gastrostomy in a 69.6 % of cases, 65% of SMA type-2 patients received nocturnal noninvasive ventilation, and 37% of the whole cohort underwent scoliosis surgery. Conclusion Ventilatory care for SMA type-1 is still based mainly on tracheostomy. This Chilean cohort of SMA patients had timely access to genetic diagnosis, ventilatory assistance, nutritional support, and scoliosis surgery. In this series, SMA type-1 is underrepresented, probably due to restrictions in access to early diagnosis and the high and early mortality rate.

La Atrofia Muscular Espinal (AME) ha concitado mucha atención en los últimos 2 años debido a la aprobación del primer tratamiento intratecal para esta enfermedad neurodegenerativa. América Latina necesita desarrollar la demografía de AME, un acceso oportuno al diagnóstico y un seguimiento apropiado de los pacientes que incorporen los estándares de atención recomendados por expertos. Estos son pasos esenciales para orientar las futuras políticas de salud en esta enfermedad. Métodos Este es un estudio descriptivo de una cohorte de pacientes con AME de todo el país. Se analizaron los datos clínicos, motores, funcionales, sociales y el estado nutricional, respiratorio y esquelético de los pacientes. También medimos el número de copias del gen SMN2 en esta población. Resultados se reclutaron 92 pacientes, 50 varones; 23 AME tipo 1, 36 AME tipo 2 y 33 AME tipo 3. La edad media al diagnóstico genético fue de 5, 24 y 132 meses respectivamente. Evaluamos el número de copias de SMN2 en 57 pacientes. Un 69,6% de los pacientes con AME tipo 1 estaban traqueostomízados y gastrostomizados , un 65% de los pacientes con AME tipo 2 usaban ventilación nocturna no invasiva y el 37% de toda la cohorte presentaba una cirugía de escoliosis. Conclusión Esta cohorte chilena de pacientes con AME tuvo acceso oportuno al diagnóstico genético, asistencia ventilatoria, apoyo nutricional y cirugía de escoliosis, sin embargo, la atención ventilatoria para AME tipo 1 continúa aun basándose principalmente en la traqueostomía. En esta serie, AME tipo 1 está subrepresentada, probablemente debido a las restricciones en el acceso al diagnóstico temprano y la tasa de mortalidad alta y temprana.

Recently, MUTYH mutations have been reported to predispose to the development of polyposis. However, polyposis caused by mutations in MUTYH has been characterized as an autosomal recessive hereditary disease, different from the autosomal dominant pattern observed in polyposis caused by APC mutations. We report a 41-year-old female consulting for anemia. Colonoscopy detected multiple sessile polyps and a cecal carcinoma. The patient was operated and in the surgical piece, the tumor invaded serosa and there was lymph node involvement. Approximately 100 polyps were found. The patient received 5-fluorouracil, as adjuvant therapy. The patient had a sister (of a total of 12 brothers) with a colorectal carcinoma. The genetic study identified a homozygous mutation of the MUTYH gene, called c.340T > C, that produces an amino acid change of tyrosine for histidine called p.Y114H. The sister with colorectal cancer was a heterozygous carrier of this mutation.

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.

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.