Predominio del subtipo molecular Luminal B en un grupo de mujeres con cáncer de mama infiltrante del Eje Cafetero de Colombia: Análisis por técnica de inmunohistoquímica / Predominance of the Luminal B molecular subtype in a group of women with infiltrating breast cancer from the Coffee Region of Colombia: Analysis by immunohistochemistry

Resumen El cáncer de mama es el cáncer más frecuente en las mujeres y constituye un problema de salud pública debido a sus altas tasas de morbimortalidad. El diagnóstico se hace a través de estudios rutinarios de histopatología que se complementan con estudios de expresión de receptores hormonales (Receptores de Estrógenos y Progesterona), del factor de crecimiento epidérmico humano 2 (HER2) e índice de proliferación celular (Ki67) para su subtipificación en grupos moleculares (Luminal A, Luminal B, Her2 y triple negativo), los cuales tienen implicaciones pronósticas y terapéuticas diferentes. Globalmente, se ha reportado una alta prevalencia del subtipo Luminal A, predominantemente en Norteamérica, Europa y algunos países latinoamericanos, sin embargo, los reportes en la población colombiana son heterogéneos. El objetivo de esta investigación es establecer un perfil de incidencia de dichos subtipos moleculares en una población del eje cafetero en Colombia. Retrospectivamente se analizaron muestras de 377 pacientes con diagnóstico de cáncer de mama infiltrante, entre los años 2015 a 2018. Los diagnósticos histológicos incluyeron: Carcinomas Ductal infiltrante NOS (339 casos; 89.9 %), lobulillar infiltrante (23 casos; 6.1 %), mucinoso infiltrante (6 casos; 1.5 %), papilar infiltrante (1 caso; 0.2 %) y patrones mixtos: ductal-lobulillar (3 casos; 0.7 %) y ductal con componente mucinoso (5 casos; 1.3 %), de los cuales 56.2 % (212 casos) corresponden a luminal B, 22.2 % (84 casos) a Luminal A, 14.8 % (56 casos) a triple negativo y 6.6 % (25 casos) a HER2. Estos hallazgos contrastan con la prevalencia reportada a nivel mundial. Por lo tanto, en la población del eje cafetero colombiano, se debe considerar este predominio del patrón luminal B al momento de establecer pronóstico y tratamiento por parte del personal médico tratante.

Abstract Breast cancer is the most common cancer in women and constitutes a public health problem due to its high rates of morbidity and mortality. Diagnosis is made through routine histopathology studies that are complemented by expression studies of hormone receptors (Estrogen and Progesterone Receptors), human epidermal growth factor 2 (HER2) and cell proliferation index (Ki67) for their subtyping into molecular groups (Luminal A, Luminal B, Her2 and triple negative), which have different prognostic and therapeutic implications. Globally, a high prevalence of the Luminal A subtype has been reported, predominantly in North America, Europe, and some Latin American countries; however, the reports in the Colombian population are heterogeneous. The objective of this research is to establish an incidence profile of these molecular subtypes in a population of the coffee region in Colombia. In retrospect, samples of 377 patients with a diagnosis of infiltrating breast cancer were analyzed, between the years 2015 and 2018. The histological diagnoses included: NOS infiltrating ductal carcinomas (339 cases; 89.9 %), infiltrating lobular (23 cases; 6.1%), infiltrating mucinous (6 cases; 1.5%), infiltrating papillary (1 case; 0.2%) and mixed patterns: ductal - lobular (3 cases; 0.7%) and ductal with mucinous component (5 cases; 1.3%), of which 56.2% (212 cases) correspond to luminal B, 22.2% (84 cases) to Luminal A, 14.8% (56 cases) to triple negative and 6.6% (25 cases) to HER2. These findings contrast with the prevalence reported worldwide. Therefore, in the population of the Colombian coffee region, this predominance of the luminal pattern B should be considered when establishing prognosis and treatment from medical staff.

Evaluating unintended consequences of intentional species introductions and eradications for improved conservation management.

Increasingly intensive strategies to maintain biodiversity and ecosystem function are being deployed in response to global anthropogenic threats, including intentionally introducing and eradicating species via assisted migration, rewilding, biological control, invasive species eradications, and gene drives. These actions are highly contentious because of their potential for unintended consequences. We conducted a global literature review of these conservation actions to quantify how often unintended outcomes occur and to elucidate their underlying causes. To evaluate conservation outcomes, we developed a community assessment framework for systematically mapping the range of possible interaction types for 111 case studies. Applying this tool, we quantified the number of interaction types considered in each study and documented the nature and strength of intended and unintended outcomes. Intended outcomes were reported in 51% of cases, a combination of intended outcomes and unintended outcomes in 26%, and strictly unintended outcomes in 10%. Hence, unintended outcomes were reported in 36% of all cases evaluated. In evaluating overall conservations outcomes (weighing intended vs. unintended effects), some unintended effects were fairly innocuous relative to the conservation objective, whereas others resulted in serious unintended consequences in recipient communities. Studies that assessed a greater number of community interactions with the target species reported unintended outcomes more often, suggesting that unintended consequences may be underreported due to insufficient vetting. Most reported unintended outcomes arose from direct effects (68%) or simple density-mediated or indirect effects (25%) linked to the target species. Only a few documented cases arose from more complex interaction pathways (7%). Therefore, most unintended outcomes involved simple interactions that could be predicted and mitigated through more formal vetting. Our community assessment framework provides a tool for screening future conservation actions by mapping the recipient community interaction web to identify and mitigate unintended outcomes from intentional species introductions and eradications for conservation.

Evaluación de las Consecuencias Involuntarias de las Introducciones y Erradicaciones Intencionales de Especies para el Manejo Mejorado de la Conservación Resumen Actualmente se despliegan estrategias cada vez más intensas para mantener la biodiversidad y la función del ecosistema como respuesta a las amenazas antropogénicas mundiales, incluyendo la introducción y erradicación intencionales de especies por medio de la migración asistida, el retorno a la vida silvestre, el control biológico, la erradicación de especies invasoras y la genética dirigida. Estas acciones son muy polémicas por el potencial que tienen para generar consecuencias involuntarias. Realizamos una revisión de la literatura mundial sobre estas acciones de conservación para cuantificar cuán seguido ocurren las consecuencias involuntarias y cuáles son sus causas subyacentes. Para evaluar los resultados de conservación, desarrollamos un marco de trabajo de evaluación comunitaria para mapear sistemáticamente el rango de posibles interacciones para 111 estudios de caso. Con la aplicación de esta herramienta cuantificamos el número de tipos de interacción consideradas en cada estudio y documentamos la naturaleza y la fuerza de los resultados involuntarios. Se reportaron los resultados voluntarios en 51% de los casos, una combinación de resultados voluntarios e involuntarios en 26% de los casos y estrictamente los resultados involuntarios en el 10% de los casos. Por lo tanto, los resultados involuntarios fueron reportados en el 36% de todos los casos evaluados. En la evaluación general de los resultados de conservación (sopesando los efectos voluntarios y. los involuntarios), algunos efectos involuntarios fueron bastante inocuos en relación con el objetivo de conservación, mientras que otros resultaron en consecuencias involuntarias severas para las comunidades receptoras. Los estudios que evaluaron un mayor número de interacciones comunitarias con la especie objetivo reportaron resultados involuntarios con mayor frecuencia, lo que sugiere que las consecuencias involuntarias pueden estar subvaloradas debido al escrutinio insuficiente. La mayoría de los resultados involuntarios reportados surgieron de los efectos directos (68%) o de los efectos indirectos o mediados por la densidad (25%) vinculados con la especie diana. Solamente unos cuantos casos documentados surgieron de interacciones más complejas (7%). Por lo tanto, la mayoría de los resultados involuntarios involucran interacciones simples que podrían ser pronosticadas y mitigadas por medio de un escrutinio más formal. Nuestro marco de trabajo de evaluación comunitaria proporciona una herramienta para la revisión de las acciones de conservación en el futuro mediante el mapeo de la red de interacciones entre comunidades receptoras y para la mitigación de los resultados involuntarios surgidos de las introducciones y erradicaciones intencionales de especies a favor de la conservación.

Introducción de resultados científicos: bases teórico-metodológicas para su mejora en la educación médica / Introduction of scientific results: theoretic-methodological bases for its improvement in medical education

RESUMEN En Cuba, la transformación de la realidad por medio de la introducción de resultados científicos -en aras del desarrollo sostenible-, es una alta prioridad por parte de las primeras instancias de dirección desde 1959. La introducción de resultados investigativos ha sido abordada por prestigiosos autores desde diferentes aristas y contextos, pero existen escasas referencias relacionadas con el tema en el ámbito de las ciencias de la educación médica. En consecuencia, este artículo presenta un análisis sobre las tendencias del proceso de introducción de resultados científicos en el ámbito académico, para luego delinear cuáles pudieran ser las bases teórico-metodológicas para la mejora del proceso en el ámbito de la educación médica (AU).

ABSTRACT In Cuba, the transformation of reality through the introduction of scientific results -for the sake of the sustainable development- is a high priority for the first instances of direction since 1959. The introduction of research results has been approached by prestigious authors from different edges and in different contexts, but there are few references related to the theme in the field of the medical education sciences. Consequently, this article presents an analysis on the tendencies of the process of introducing scientific results in the academic sphere, and then outlines the possible theoretic-methodological bases for improving the process in the field of medical education (AU).

Ex situ collections and their potential for the restoration of extinct plants.

The alarming current and predicted species extinction rates have galvanized conservationists in their efforts to avoid future biodiversity losses, but for species extinct in the wild, few options exist. We posed the questions, can these species be restored, and, if so, what role can ex situ plant collections (i.e., botanic gardens, germplasm banks, herbaria) play in the recovery of plant genetic diversity? We reviewed the relevant literature to assess the feasibility of recovering lost plant genetic diversity with using ex situ material and the probability of survival of subsequent translocations. Thirteen attempts to recover species extinct in the wild were found, most of which used material preserved in botanic gardens (12) and seed banks (2). One case of a locally extirpated population was recovered from herbarium material. Eight (60%) of these cases were successful or partially successful translocations of the focal species or population; the other 5 failed or it was too early to determine the outcome. Limiting factors of the use of ex situ source material for the restoration of plant genetic diversity in the wild include the scarcity of source material, low viability and reduced longevity of the material, low genetic variation, lack of evolution (especially for material stored in germplasm banks and herbaria), and socioeconomic factors. However, modern collecting practices present opportunities for plant conservation, such as improved collecting protocols and improved cultivation and storage conditions. Our findings suggest that all types of ex situ collections may contribute effectively to plant species conservation if their use is informed by a thorough understanding of the aforementioned problems. We conclude that the recovery of plant species currently classified as extinct in the wild is not 100% successful, and the possibility of successful reintroduction should not be used to justify insufficient in situ conservation.

Colecciones Ex Situ y su Potencial para la Restauración de Plantas Extintas Resumen Las alarmantes tasas de extinción actuales y pronosticadas han incitado a los conservacionistas a esforzarse para evitar las futuras pérdidas de biodiversidad, pero para las especies que ya se encuentran extintas en vida silvestre existen pocas opciones. Nos preguntamos si estas especies pueden ser restauradas, y de ser así, qué papel pueden desempeñar las colecciones ex situ de plantas (es decir, jardines botánicos, bancos de germoplasma, herbarios) en la recuperación de la diversidad genética de las plantas. Revisamos la literatura relevante para evaluar la factibilidad de la recuperación de la diversidad genética perdida y la probabilidad de supervivencia subsecuente de las reubicaciones. Encontramos 13 intentos por recuperar especies extintas en vida silvestre, la mayoría de los cuales usó material preservado en jardines botánicos (12) y en bancos de semillas (2). También hubo un caso de una población eliminada localmente que fue recuperada con material de un herbario. Ocho (60%) de estos casos fueron reubicaciones exitosas o parcialmente exitosas de la especie o población focal; los otros cinco fallaron o era demasiado pronto para poder determinar el resultado. Los factores que limitan el uso de material proveniente de colecciones ex situ para la restauración de la diversidad genética de las plantas en vida silvestre incluyen la escasez de material original, la baja viabilidad y la longevidad reducida del material, la baja variación genética, la falta de evolución (especialmente para el material almacenado en herbarios y bancos de germoplasma) y los factores socioeconómicos. A pesar de esto, las prácticas modernas de colección representan una oportunidad para la conservación de las plantas, como los protocolos mejorados de recolección y las condiciones acrecentadas de cultivo y almacenamiento. Nuestros hallazgos sugieren que todos los tipos de colecciones ex situ pueden contribuir efectivamente a la conservación de especies de plantas si su uso está respaldado por un entendimiento a fondo de los problemas antes mencionados. Concluimos que la recuperación de especies de plantas que actualmente están clasificadas como extintas en vida silvestre no es 100% exitosa y que la posibilidad de una reintroducción exitosa no debería utilizarse para justificar una conservación in situ insuficiente.

Ventana óptima de introducción de alimentos y prevención de alergias alimentarias en lactantes de alto riesgo / Optimal window of food introduction and prevention of food allergies in high-risk infants

En las últimas décadas, la introducción temprana de alimentos en la dieta de los lactantes se ha descrito como un factor de riesgo para el desarrollo de ciertas patologías, entre las que destacan las alergias alimentarias. Debido a la creciente prevalencia de las alergias alimentarias, tanto en países en vías de desarrollo como en países desarrollados, resulta necesario identificar el momento óptimo de introducción de alimentos para la prevención de alergias en lactantes de alto riesgo. La evidencia más reciente, ha demostrado que las estrategias propuestas hasta el momento de retrasar la exposición a los alimentos alergénicos, no ha reducido el riesgo de desarrollar alergias. Esto ha producido un cambio de paradigma que ha derivado en la publicación de nuevas guías que recomiendan no retrasar la introducción de alimentos sólidos después de los 4-6 meses de edad, tanto en lactantes de bajo como de alto riesgo, para prevenir la alergia alimentaria. En la presente revisión, se describe la evidencia científica actual sobre la relación entre el momento de la introducción de alimentos alergénicos (maní, huevos, leche, cereales y pescado) en la dieta de los lactantes y el desarrollo de alergias alimentarias(AU)

In recent decades, the early introduction of foods in infants' diet has been described as a risk factor for developing specific pathologies, among which food allergies stand out. Due to the increasing prevalence of food allergies, both in developing and developed countries, it is necessary to identify the optimal time to introduce foods to prevent allergies in high-risk infants. The most recent evidence has shown that the strategies proposed to delay exposure to allergenic foods have not reduced the risk of developing allergies. Therefore, a paradigm shift has led to the publication of new guidelines that recommend not delaying the introduction of solid foods after 4-6 months of age, both in low-risk and high-risk infants, to prevent food allergy. In this review, we describe the current scientific evidence on the relationship between the timing of the introduction of allergenic foods (peanuts, eggs, milk, cereals, and fish) into infants' diet and the development of food allergies(AU)

Public perception of river fish biodiversity in four European countries.

Public support for biodiversity conservation is shaped by people's values and their knowledge, beliefs, and attitudes toward the environment. We conducted the first multinational representative survey of the general public's perceptions of river fish biodiversity in France, Germany, Norway, and Sweden. For the online survey, 1000 respondents per country were randomly selected from large panels following country-specific quotas set on age, gender, and educational level. Questions covered people's level of knowledge, beliefs, values, and attitudes toward river fish, environmental threats, and conservation measures. We found that the public had limited knowledge of freshwater fishes. Two non-native species, rainbow trout (Oncorhynchus mykiss) and brook trout (Salvelinus fontinalis), were widely perceived as native, whereas native Atlantic salmon (Salmo salar) was mostly classified as native in Scandinavia and largely as non-native in central Europe. These results suggest an extinction of experience paralleling the extirpation or decline of salmon stocks in countries such as Germany and France. Respondents thought pollution was the dominant threat to riverine fish biodiversity. In reality, habitat loss, dams, and the spread of non-native fishes are equally important. Despite limited biological knowledge, respondents from all countries held an overwhelmingly proecological worldview, supported conservation stocking, and appreciated native fishes, although only a minority interacted with them directly. Differences among the 4 countries related to several conservation issues. For example, threats to biodiversity stemming from aquaculture were perceived as more prevalent in Norway compared with the other 3 countries. Promoting fish conservation based on charismatic species and use values of fishes may work well in countries with a strong economic and cultural link to the freshwater environment, such as Norway. In countries where people rather abstractly care for nature, focusing conservation messaging on broader ecosystem traits and non-use values of fishes is likely to win more support.

Tendencias de mortalidad y años potenciales de vida perdidos por cáncer de ovario en México, 2000-2014.

INTRODUCCIÓN: En México, el cáncer de ovario representa 5.3 % de los diagnósticos de cáncer en todos los grupos de edad y 21 % de los cánceres ginecológicos; en las últimas tres décadas ha tenido un aumento constante. OBJETIVO: Determinar la tendencia de la mortalidad por cáncer de ovario y los años potenciales de vida perdidos (APVP) por estado y región socioeconómica de México entre 2000 y 2014. MÉTODO: Se obtuvieron los registros de cáncer de ovario del Instituto Nacional de Estadística y Geografía. Se identificaron los códigos de la CIE-10 correspondientes a la causa básica de defunción por cáncer de ovario. Se calcularon las tasas de mortalidad y las tasas de APVP a nivel nacional, por estado y región socioeconómica. RESULTADOS: Entre 2000 y 2014, las tasas ajustadas por edad por 100 000 mujeres se incrementaron de 3.3 a 4.1. Las mayores tasas de mortalidad se identificaron en la región 7, en Chihuahua, Baja California Sur, Colima, Quintana Roo, Zacatecas, Sonora, Coahuila, Aguascalientes, Querétaro. La mayor tasa de APVP por cáncer de ovario se registró en las regiones 7, 5 y 6, en Nayarit, Baja California Sur, Zacatecas, Colima, Tlaxcala, Oaxaca, Quintana Roo, Coahuila, Aguascalientes y Querétaro. CONCLUSIONES: La región socioeconómica 7 de México presentó las mayores tasas de APVP y de mortalidad por cáncer de ovario. INTRODUCTION: In Mexico, ovarian cancer accounting for 5.3% of cancer diagnoses in all age groups and 21% of gynecological cancers and it has had a steady increase in the last three decades. OBJECTIVE: To determine mortality trends from ovarian cancer and potential years of life lost (PYLL) by state and socioeconomic region of Mexico between 2000 and 2014. METHOD: Records of ovarian cancer were obtained from the National Institute of Statistics and Geography. ICD-10 codes corresponding to ovarian cancer as the basic cause of death were identified. Mortality rates and YPLL rates were calculated by nationwide, states and socioeconomic region. RESULTS: Between 2000 and 2014, age-adjusted rates per 100,000 women increased from 3.3 to 4.1. The highest mortality rates were identified in region 7, in Chihuahua, Baja California Sur, Colima, Quintana Roo, Zacatecas, Sonora, Coahuila, Aguascalientes and Queretaro. The highest rates of PYLL due to ovarian cancer were recorded in regions 7, 5 and 6, Nayarit, Baja California Sur, Zacatecas, Colima, Tlaxcala, Oaxaca, Quintana Roo, Coahuila, Aguascalientes and Queretaro. CONCLUSIONS: Mexico's socioeconomic region 7 had the highest rates of PYLL and mortality from ovarian cancer.

Valorización económica de los cuidados no remunerados en salud: un aporte al reconocimiento del trabajo invisible de los hogares y las mujeres / Determining the Worth of Unpaid Health Care: A Contribution to Recognize the Invisible Work by Women and Homes / Valoração econômica dos cuidados não remunerados em saúde: uma contribuição para o reconhecimento do trabalho invisível das famílias e as mulheres

Resumen El presente artículo tiene como objetivos la valorización del cuidado no remunerado en salud en Uruguay y la caracterización de los/as cuidadores/as (remunerado o no) de personas enfermas. Dichos objetivos son llevados a cabo, principalmente, mediante el análisis cuantitativo de los datos de la primera Encuesta Nacional de Cuidados No Remunerados en Salud (2013) en Uruguay. La encuesta permite conocer y valorizar (método de costo de reemplazo) el tiempo de cuidados no remunerados en salud, así como la caracterización de las/os cuidadoras/es no remunerados en salud. El artículo muestra que el trabajo de cuidados no remunerados en salud realizado por los hogares equivale a un tercio del agregado del sector salud del Producto Interno Bruto y que las mujeres son las principales cuidadoras. En consecuencia, asumen los costos de pérdida de autonomía y limitaciones en el goce de derechos que la realización de este trabajo implica.

Abstract This paper is intended to determine the worth of unpaid health care in Uruguay and to characterize the caregivers (either paid or unpaid) who serve ill people. These objectives are accomplished mainly through the quantitative analysis of the data gathered by the first National Survey of Unpaid Health Care (2013) in Uruguay. This survey enables to become aware and set the worth of the unpaid health care times (replacement cost method) and to characterize the unpaid caregivers. This paper shows how the unpaid health care provided by homes accounts for a third of whole health care aggregate in the Gross Domestic Product. Women are the main caregivers, thus assuming the costs of losing their autonomy and seeing reduced the opportunities to enjoy their rights.

Resumo O presente artigo tem como objetivo a valorização do cuidado não remunerado em saúde em Uruguai e a caracterização dos cuidadores e das cuidadoras (remunerados ou não) de pessoas doentes. Tais objetivos são levados a cabo, principalmente, mediante análise quantitativa dos dados do primeiro Inquérito Nacional de Cuidados Não Remunerados em Saúde (2013) em Uruguai. O inquérito permitiu conhecer e valorizar (método de custo de reposição) o tempo de cuidados não remunerados em saúde, bem como a caracterização das/dos cuidadoras/es não remunerados em saúde. O artigo demonstra que o trabalho de cuidados não remunerados em saúde realizado pelas famílias equivale a um terço do agregado do setor saúde no Produto Interno Bruto e que as mulheres são as principais cuidadoras. Em consequência, assumem os custos de perda de autonomia e limitações no desfrute de direitos que a realização desse trabalho implica.

Level of environmental threat posed by horticultural trade in Cactaceae.

Ornamental horticulture has been identified as an important threat to plant biodiversity and is a major pathway for plant invasions worldwide. In this context, the family Cactaceae is particularly challenging because it is considered the fifth most threatened large taxonomic group in the world; several species are among the most widespread and damaging invasive species; and Cactaceae is one of the most popular horticultural plant groups. Based on the Convention on International Trade in Endangered Species of Wild Flora and Fauna and the 11 largest online auction sites selling cacti, we documented the international cactus trade. To provide an in-depth look at the dynamics of the industry, we surveyed the businesses involved in the cactus trade in South Africa (a hotspot of cactus trade and invasions). We purchased seeds of every available species and used DNA barcoding to identify species to the genus level. Although <20% of this trade involved threatened species and <3% involved known invasive species, many species were identified by a common name. However, only 0.02% of the globally traded cacti were collected from wild populations. Despite a large commercial network, all South African imports (of which 15% and 1.5% were of species listed as threatened and invasive, respectively) came from the same source. With DNA barcoding, we identified 24% of the species to genus level. Based on our results, we believe that if trade restrictions are placed on the small proportion of cacti that are invasive and there is no major increase in harvesting of native populations, then the commercial trade in cactus poses a negligible environmental threat. However, there are currently no effective methods for easily identifying which cacti are traded, and both the illicit harvesting of cacti from the wild and the informal trade in invasive taxa pose on-going conservation challenges.

Enfermedad peroxisomal, condrodisplasia rizomelica punctata tipo 1: reporte de caso / Peroxisomal disorder, rhizomelyc chondrodysplasia punctata type 1: case report

Introducción: Las enfermedades peroxisomales son un grupo de trastornos monogénicos que incluyen desórdenes en la biogénesis del peroxisoma o deficiencias enzimáticas. La Condrodisplasia Rizomélica Punctata Tipo 1 (RCDP1) pertenece al primer grupo, es autosómica recesiva originada por mutaciones del gen PEX7, que codifica para el receptor PTS2. El objetivo del presente artículo son describir una enfermedad genética de baja prevalencia, explicando sus principales características y la importancia de la aproximación diagnóstica y asesoría genética. Caso clínico: Lactante masculino de 13 meses, sin antecedentes familiares ni consanguinidad. Al nacimiento presentaba acortamiento de miembros superiores. Fue intervenido a los 7 meses por catarata bilateral. Presentaba severo retardo del crecimiento, retraso del desarrollo psicomotor, anomalías menores craneofaciales, acortamiento rizomélico de miembros superiores y en menor grado de miembros inferiores. En la radiografía se identificaban calcificaciones punteadas del cartílago en rótula. Entre los exámenes de laboratorio destacaba elevación de los ácidos grasos fitánico y pristánico. El paciente falleció a la edad de 3 años. Discusión: Esta es una enfermedad rara, la prevalencia es 1/100.000, se han descrito diferentes mutaciones del gen PEX7 teniendo variación en el fenotipo. El tratamiento es básicamente sintomático y depende de la gravedad de las manifestaciones clínicas, el tipo rizomélico es de mal pronóstico, la mayoría de los pacientes no sobrevive antes de la primera década de vida. La asesoría genética es fundamental ya que se considera un riesgo del 25% de recurrencia.

Introduction: Peroxisomal diseases are a group of monogenic disorders that include defects in peroxisome biogenesis or enzyme dificiencies. Rhizomelic chondrodysplasia punctata type 1 (RCDP1) belongs to the first group, caused by autosomal recessive mutations on PEX7 gene, encoding for PTS2 receptor. The aims of this report are to describe a genetic disease of low prevalence, explaining its main characteristics and the importance of the diagnostic approach and genetic counseling. Case report: 13-month-old male infant with no medical history, family or consanguinity, demonstrate at birth upper limbs shortening. Surgery intervention at seven months old for bilateral cataract. Growth retardation, psychomotor retardation, minor craniofacial anomalies, rhyzomelic shortened upper limbs and lower limbs lesser degree. Punctata calcifications in patella cartilage. Also fatty acid phytanic and pristanic increased levels. Patient dead at age of 3 years. Discussion: RCDP1 is a rare disease, with a prevalence of 1/100,000. Different mutations of PEX7 gene have been described, with variations in phenotype. The treatment is basically symptomatic and depends on the severity of clinical manifestations. The rhizomelic type has poor prognosis, most patients do not survive before the first decade of live. Genetic counseling is essential because it is consider a 25% risk of recurrence.

Control metabólico y rendimiento escolar en niños con diabetes tipo 1 / Metabolic control and school performance in children with type 1 diabetes

El impacto de la diabetes tipo 1 (DM1) en el rendimiento escolar es controversial. Objetivo: Evaluar la relación entre rendimiento escolar y control metabólico en niños con DM1 (N-DM1) y comparar sus resultados con niños de la población general (N-PG). Pacientes y Método: Se revisaron datos clínicos de 66 N-DM1. Se compararon las calificaciones de N-DM1 según Hemoglobina Glicosilada (HbA1c) < 7,5% y ≥ 7,5% con N-PG del mismo nivel, comuna, tipo de colegio (municipal, particular subvencionado y particular pagado) y localidad. Para la comparación de los grupos se utilizó la regresión lineal simple y el test de suma de los rangos de Wilcoxon (Mann y Whitney) previa comprobación de incumplimiento de normalidad con el test de Shapiro-Wilk según el caso. Se consideró un valor de p < 0,05 como estadísticamente significativo con una confiabilidad del 95%. Resultados: La edad fue 13,4 ± 2,9 años, tiempo de evolución DM1 5,3 ± 3,2 años, HbA1c 8,6 ± 1,9% y controles de glicemia capilar 3,2 ± 1,2 veces por día. Las calificaciones no mostraron correlación con HbA1c, duración de DM1, hipotiroidismo, problemas de salud mental, antecedentes de hipoglicemia ni de cetoacidosis. N-DM1 de educación básica mostraron calificaciones inferiores a N-PG del mismo nivel 5,6 ± 0,7 vs 6,0 ± 0,2 (p = 0,0002). Las calificaciones se correlacionaron con el número de controles diarios de glicemia capilar, coeficiente de correlación de Pearson (r) de 0,25, 0,41, 0,52 y 0,58 con el promedio general, matemática, lenguaje e historia respectivamente (p < 0,05). Un 6,1% de N-DM1 y 4,8% de N-PG no fue promovido de curso (p = 0,65). La deserción escolar fue 10,5% en N-DM1 y 7,7% en N-PG (p = 0,47). Conclusión: N-DM1que cursaban educación básica tuvieron calificaciones inferiores a N-PG y los pacientes que controlaban su glicemia capilar con mayor frecuencia mostraron mejores calificaciones. La DM1 puede tener un impacto deletéreo en el rendimiento escolar.

The impact of type 1 diabetes (T1D) on school performance is controversial. Objective: To study the relationship between school performance and metabolic control in children with T1D (Ch-T1D), comparing their school grades to general population children (Ch-GP). Patients and Method: Clinical data for 66 Ch-T1D was reviewed, school grades were compared in Ch-T1D with Glycated Haemoglobin (HbA1c) HbA1c < 7.5% and ≥ 7.5%. School marks were also compared between Ch-T1D and Ch-GP from the same level, community and school type (public, private o chartered). Simple linear regression analysis and Mann Whitney test were used to compare groups. A p < 0.05 was considered significant. Results: Ch-T1D were: 13.4 ± 2.9 years old, T1D duration: 5.3 ± 3.2 years, HbA1c was 8.6 ± 1.9% and capillary blood glucose was measured 3.2 ± 1.2 times per day. Grade averages showed no correlation with HbA1c, diabetes duration, hypothyroidism, mental health issues, neither with hypoglycemia or ketoacidosis records. However, primary education Ch-T1D showed lower grades than Ch-GP 5.6 ± 0.7 and 6.0 ± 0.2 (p = 0,0002). School grades correlated with the number of capillary blood glucose readings per day, Pearson correlation coefficient (r) 0.25, 0.41, 0.52 and 0.58 with general grade point average, math, language, and history average respectively (p < 0.05). School non-pass rate was 6.1% in Ch-T1D and 4.8% in Ch-GP (p = 0.65) and school dropout rate was 10.5% in Ch-T1D and 7.7% in Ch-GP (p = 0.47). Conclusion: Ch-T1D attending primary school showed lower school grades than Ch-GP, and patients who more frequently checked capillary blood glucose showed better school grades. T1D may have a deleterious impact on school performance.

Alcohol consumption in early adolescence and medical care. / Consumo de bebidas alcohólicas en la adolescencia temprana y su atención médica.

INTRODUCTION: Alcohol consumptionin adolescents is a risky behavior that can be prevented. Objective. To determine health care and alcohol consumption pattern in early adolescence and its relation to determinants of health (biological, environmental, social and health system factors). METHOD: A qualitative-quantitative, crosssectional study was carried out in the four schools belonging to Popular Council 8 of Mario Gutiérrez Ardaya health sector in May, 2013. The study universe was made up of adolescents aged 10-14. The sample was determined through a simple randomized sampling. Surveys were administered to adolescents, parents, educators and senior health staff members to determine alcohol consumption, medical care quality and level of knowledge on the problem. A nominal group with health professionals was created. RESULTS: Two hundred and eighty eight adolescents were included. 54.5% were alcohol users, of which 30.2% were 10-11 years old. Those classified as low risk were prevailing (55.6%). 100% of the senior health staff expressed the need for a methodology of care. 90.4% of education staff considered adolescence as a vulnerable stage. Relatives reported that there should be adolescent-specific medical appointments (61.8%). The nominal group's most important opinions were based on the main features that a consultation for adolescents should have and on the problems hindering proper care. CONCLUSIONS: Alcohol consumption was considered high and early start prevailed. Insufficient care to early adolescents who use alcohol was made evident.

INTRODUCCIÓN: El consumo de alcohol en los adolescentes es un comportamiento de riesgo prevenible. OBJETIVO: Determinar el comportamiento del consumo de bebidas alcohólicas y de la atención en la adolescencia temprana y su relación con los determinantes de la salud (factores biológicos, ambientales, sociales y del sistema de salud). MÉTODO: Se realizó un estudio cualicuantitativo transversal en las cuatro escuelas pertenecientes al Consejo Popular ocho del área de salud Mario Gutiérrez Ardaya en mayo de 2013. El universo estuvo constituido por adolescentes de 10 a 14 años. La muestra fue determinada a través de un muestreo aleatorio simple. Se utilizaron encuestas para los adolescentes, padres, educadores y personal jerárquico del área de salud para determinar el consumo de alcohol, la calidad de la atención médica y el nivel de conocimientos sobre la problemática. Se realizó un grupo nominal con profesionales de la salud. RESULTADOS: Se incluyeron 288 adolescentes. El 54,5% consumía; de ellos, el 30,2% tenían 10 y 11 años. Predominaron los clasificados como bajo riesgo (55,6%). El 100% del personal jerárquico del área de salud expresó la necesidad de una metodología para la atención. El 90,4% del personal de educación consideró la adolescencia como una etapa vulnerable. Los familiares refirieron que debían existir consultas propias para adolescentes (61,8%). Las opiniones más importantes del grupo nominal se basaron en las principales características que debía tener una consulta para adolescentes y en los problemas que limitaban una adecuada atención. CONCLUSIONES: El consumo de bebidas alcohólicas se consideró alto y predominó el inicio precoz. Se evidenció insuficiente atención a la adolescencia temprana con consumo de bebidas alcohólicas.

Translocation of threatened plants as a conservation measure in China.

We assessed the current status of plant conservation translocation efforts in China, a topic poorly reported in recent scientific literature. We identified 222 conservation translocation cases involving 154 species, of these 87 were Chinese endemic species and 101 (78%) were listed as threatened on the Chinese Species Red List. We categorized the life form of each species and, when possible, determined for each case the translocation type, propagule source, propagule type, and survival and reproductive parameters. A surprisingly large proportion (26%) of the conservation translocations in China were conservation introductions, largely implemented in response to large-scale habitat destruction caused by the Three-Gorge Dam and another hydropower project. Documentation and management of the translocations varied greatly. Less than half the cases had plant survival records. Statistical analyses showed that survival percentages were significantly correlated with plant life form and the type of planting materials. Thirty percent of the cases had records on whether or not individuals flowered or fruited. Results of information theoretic model selection indicated that plant life form, translocation type, propagule type, propagule source, and time since planting significantly influenced the likelihood of flowering and fruiting on the project level. We suggest that the scientific-based application of species conservation translocations should be promoted as part of a commitment to species recovery management. In addition, we recommend that the common practice of within and out of range introductions in nature reserves to be regulated more carefully due to its potential ecological risks. We recommend the establishment of a national office and database to coordinate conservation translocations in China. Our review effort is timely considering the need for a comprehensive national guideline for the newly announced nation-wide conservation program on species with extremely small populations, which is expected to stimulate conservation translocations for many species in the near future.

Telemedicine network Program for reperfusion of Myocardial infarction / Programa en red para la reperfusión del infarto con telemedicina

background: Early management of myocardial infarction in the area of public health requires the integration of specific programs for the coordination of healthcare services. Objective: The aim of this study was to evaluate the impact on delay times and reperfusion rate of a comprehensive program for the reperfusion of myocardial infarction in a hospital network of the Southern Greater Buenos Aires. Methods: The network consists of six low-mid-complexity hospitals and a third-level referral center with 24-hour cath-lab. Stage 1 of the program (2009-2010) evaluated the existing barriers to reperfusion; Stage 2 (2011-2013) implemented the progressive incorpora-tion of improvements and Stage 3 assessed the program (2013-2014) complemented with fellows in each hospital. Program impact was evaluated by the proportion of patients reperfused and time to its implementation. results: A total of 432 patients referred from the network were hospitalized with diagnosis of ST-segment elevation myocardial infarction. Mean age was 56±9 years and 83.3% were men. The proportion of reperfused patients progressively increased: S1 60.7%, S2 69% and S3 78%, p for trend=0.01. Time to reperfusion decreased significantly between S1 and S3, from 120 minutes (IQR 55-240) to 90 minutes (IQR 35-150), p=0.04, with a median reduction of 30 minutes in the door-to-balloon and door-to-needle times. Conclusions: The application of a program for myocardial reperfusion based on the diagnosis of barriers was associated with 28.5% increase in reperfusion, and a significant reduction in the implementation times. This public network model built on algorithms adapted to local barriers may contribute to improve the care of myocardial infarction in our country.

Impact of a Meditation Program on Pulse-Wave Velocity, C-reactive Protein and Quality of life / Impacto de un programa de meditación sobre la velocidad de onda de pulso, la proteína C-reactiva y la calidad de vida

background: Although various studies refer to the effect of meditation on blood pressure (BP), its impact on other cardiovascular clinical variables is unknown. Objective: The aim of this study was to evaluate the effects of a meditation program on pulse wave velocity (PWV), quality of life and ultrasensitive C-reactive protein (us-CRP) in patients with ischemic heart disease or chronic heart failure. Methods: This was a randomized study with two groups of patients: a meditation group (M) and an active control group (AC) with cardiovascular health education, evaluating the difference between initial and final values at 12 weeks of B P, PWV, quality of life (assessed by the SF-36 questionnaire) and us-CRP. results: Thirty-five patients were included in the M group and 35 in the AC group; mean age was 61 years and 80% were men. Both groups had similar baseline characteristics, except for higher number of smokers and triglyceride levels in the M group. At 12 weeks, no significant differences were found for ∆PWV: +0.51 (±1.40) in AC and +0.19 (±1.53) in M (p=0.37). Conversely, ∆SF-36 was +0.79 (±7.58) in AC vs. +5.40 (±9.69) (p=0.03) in M, and ∆us-PCR was +1.17 (±2.9) in AC vs. -0.69 (±0.89) in M (p=0.02). Conclusions: A meditation program did not significantly modify PWV at 12 weeks. However, patients allocated to this intervention improved their quality of life and us-PCR was significantly reduced. Larger studies are required to confirm these findings and explore the mechanisms involved in this improvement.

Diagnostic ability of Physical Examination in aortic Valve stenosis / La capacidad diagnóstica del examen físico en la estenosis valvular aórtica

background: Physical examination is essential to detect aortic stenosis but there is scarce information currently available. Objectives: The goal of this study is to evaluate the diagnostic yield of physical examination, the interobserver agreement of clinical signs, and to establish a score to identify severe aortic stenosis. Methods: One-hundred patients were included in the study. Before echocardiographic evaluation, two cardiologists independently evaluated the clinical signs of the physical examination in aortic stenosis. Sensitivity, specificity, and inter-observer agreement were calculated, and the area under the curve was analyzed to develop a score for predicting severe aortic stenosis. results: The decreased intensity of the first heart sound and the crescendo-decrescendo shape of the murmur had sensitivity >90% and specificity <70%. The specificities of an absent second sound, a murmur that peaks later in systole and the presence of a parvus et tardus pulse were >95%, but the sensitivities were <50%. Inter-observer agreement was good for most criteria, except for murmur shape and intensity. The best area under the curve was achieved by the score composed of heart sounds of decreased or absent intensity, duration of the holosystolic murmur, parvus et tardus carotid pulse and a grade 3-4 systolic murmur. Conclusions: Physical examination findings have low sensitivity but good specificity. Inter-observer agreement of clinical signs of severity was moderately good. Correct identification of patients with severe aortic stenosis can be achieved using a simple score.

Clinical and Functional Outcome of Percutaneous alcohol septal ablation in Obstructive Hypertrophic Cardiomyopathy / Resultados clínicos y funcionales de la ablación septal percutánea con alcohol en la miocardiopatía hipertrófica obstructiva

background: Percutaneous septal ablation is a therapeutic option for patients with obstructive hypertrophic cardiomyopathy refrac-tory to optimal medical therapy. However, results of initial persistence and long-term safety are still controversial. Objectives: The aim of this study was to report percutaneous alcohol septal ablation technique, clinical and functional outcome, cardiovascular events and its impact on long-term follow-up. Methods: A total of 23 patients were included in the study. Functional class (FC), left ventricular outflow tract gradient before and after the procedure and long-term cardiovascular events were evaluated. results: Median follow-up was 52 months (IR 33-72). All patients were in FC III or IV prior to the procedure, under maximum tolerated medical therapy. The procedure was successful in 91% of cases, with 85% of patients currently in FC I and 15% in FC II. Baseline left ventricular outflow tract gradient decreased from 75 mmHg (95% CI 51-89) to 25 mmHg (95% CI 10-37) (p <0.003) and with Valsalva maneuver from 118 mmHg (95% CI 88-152) to 38 mmHg (95% CI 16-69) (p <0.0002), persisting in the long-term follow-up. During hospitalization, two patients presented with complete atrioventricular block requiring permanent pacemaker implantation. No cardiovascular deaths occurred during follow up. Conclusions: Alcohol septal ablation is a promising option for the treatment of a selected population with hypertrophic obstructive cardiomyopathy, generating sustained clinical and functional improvement with low incidence of events in the long-term follow up.

Estudio TAMARA II. Tabaquismo en médicos de la República Argentina II / The tamara ii trial. smoking among physicians in argentina

background: Smoking is the leading cause of preventable morbidity and death. It is important to know the characteristics of smoking habits among physicians and their attitude toward patients who smoke. Objective: The aim of this study is to investigate the prevalence of smoking among physicians in Argentina, the factors associated with tobacco consumption and their attitude toward their patients who smoke. Methods: An observational cross- sectional study was performed between June and December 2013 in Argentine physicians of dif-ferent specialties. Using a structured survey, the following variables were analyzed: associated cardiovascular risk factors, charac-teristics of tobacco consumption, smoking cessation training and the attitude toward the patient who smokes. results: 3,033 physicians were surveyed, ; 57% were men, and mean age was 41.3±12 years; 19.7% were current smokers and 21.7% were former smokers. The probability of being a smoker was higher among surgeons (OR 1.29) or physicians working at the emergency room (OR 1.41). Undergraduate and postgraduate tobacco cessation training was achieved by 36.6% and 40.8% of physicians, respectively. Young physicians, clinical specialties or private practice were associated with higher level of training. Tobacco cessation counseling was more frequent in physicians with higher level of training than physicians who smoked or surgeons. Former smokers presented higher prevalence of risk factors and cardiovascular events. Family history of smoking habit was more common in former smokers and current smokers. Conclusions: The prevalence of smoking among Argentine physicians is high. Different factors are involved in the probability of smoking, tobacco cessation training or the possibility of medical counseling. Higher level of training in smoking cessation must be provided.

[The introduction of gluten into the infant diet. Expert group recommendations]. / La introducción del gluten en la dieta del lactante. Recomendaciones de un grupo de expertos.

At present there is a degree of uncertainty regarding when, how and in what form gluten should be introduced into the infant diet. For years the recommendations of the ESPGHAN Committee on Nutrition have prevailed, which include avoiding early introduction, before 4 months, and late, after 7 months, and gradually introducing gluten into the diet while the infant is being breastfed, with the aim of reducing the risk of celiac disease, diabetes and gluten allergy. However, 2 independent studies published in The New England Journal of Medicine in October 2014 reached the conclusion that the age of introduction of gluten does not modify the risk of developing celiac disease, and that breastfeeding at any age does not confer protection against celiac disease development. On the other hand, according to available scientific evidence, the introduction of foods other than breast milk or formula into the infants diet is generally recommended around 6 months of age, since the introduction before 4 months could be associated with an increased risk of food allergy and autoimmune diseases, and delaying it beyond 7 months would not have a protective effect. In this context, a group of experts has considered it appropriate to produce a consensus document based on the current scientific evidence and present general recommendations for daily clinical practice on the introduction of gluten into the diet.

Análisis del programa de la asignatura Introducción a la Medicina General Integral / Analysis to the program: General Medicine Introductory Course

Se realiza el análisis del Programa de la asignatura Introducción a la Medicina General Integral, que se imparte en el primer año de la carrera de Medicina, con el objetivo de describir aspectos relacionados con los componentes no personales del proceso de enseñanza aprendizaje. Se utilizan los criterios de las autoras con experiencia en la impartición de dicho programa, las cuales identificaron algunos aspectos negativos relacionados con los objetivos, valores, habilidades, orden de contenidos y la evaluación fundamentalmente. Se refleja que el programa de la asignatura tributa al modelo del profesional, y contribuye a la formación del futuro egresado, capaz de reconocer la importancia de la práctica médica general integral en la solución de los principales problemas de salud de las personas, familias y comunidad, en relación con la triple dimensión biopsicosocial del ser humano y el proceso salud-enfermedad(AU)

Analysis to the program: General Medicine Introductory Course, which is taught and done in the first year of the medical career, in order to describe aspects of non-personal components of teaching-learning process. The criteria of the authors are used in teaching this program, which are identified some negative aspects related to the goals, values, skills, and content by the evaluation notably. It reflects that the course syllabus is added to the professional model, and contributes to the formation of the graduate student able to recognize the importance of comprehensive general medical practice in solving major health problems of individuals, families and community future in relation to the biopsychosocial triple dimension of human beings and the health-disease process