Upregulation of Heat-Shock Protein (hsp)-27 in a Patient with Heterozygous SPG11 c.1951C>T and SYNJ1 c.2614G>T Mutations Causing Clinical Spastic Paraplegia.

We report a 49-year-old patient suffering from spastic paraplegia with a novel heterozygous mutation and analyzed the levels of heat shock proteins (hsp)-27, dopamine (DA), and its metabolites in their cerebrospinal fluid (CSF). The hsp27 protein concentration in the patient's CSF was assayed by an ELISA kit, while DA levels and its metabolites in the CSF, 3,4-dihydroxyphenylacetic acid (DOPAC), Cys-DA, and Cys-DOPA were measured by HPLC. Whole exome sequencing demonstrated SPG-11 c.1951C>T and novel SYNJ1 c.2614G>T mutations, both heterozygous recessive. The patient's DA and DOPAC levels in their CSF were significantly decreased (53.0 ± 6.92 and 473.3 ± 72.19, p < 0.05, respectively) while no differences were found in their Cys-DA. Nonetheless, Cys-DA/DOPAC ratio (0.213 ± 0.024, p < 0.05) and hsp27 levels (1073.0 ± 136.4, p < 0.05) were significantly higher. To the best of our knowledge, the c.2614G>T SYNJ1 mutation has not been previously reported. Our patient does not produce fully functional spatacsin and synaptojanin-1 proteins. In this line, our results showed decreased DA and DOPAC levels in the patient's CSF, indicating loss of DAergic neurons. Many factors have been described as being responsible for the increased cys-DA/DOPAC ratio, such as MAO inhibition and decreased antioxidant activity in DAergic neurons which would increase catecholquinones and consequently cysteinyl-catechols. In conclusion, haploinsufficiency of spatacsin and synaptojanin-1 proteins might be the underlying cause of neurodegeneration produced by protein trafficking defects, DA vesicle trafficking/recycling processes, autophagy dysfunction, and cell death leading to hsp27 upregulation as a cellular mechanism of protection and/or to balance impaired protein trafficking.

How COVID-19 has Been Transforming the Notion of Care

The year 2020 surprised us with COVID-19, which expanded throughout Asia and Europe and became a pandemic, reaching Latin America and our cities and everything seemed to change, including the most intimate and private relationships of social life in general, with repercussions in the human condition that lead to thinking about its setbacks. For the population not expert in epidemiology, it results quite difficult to understand what is happening and know what to do and how to assimilate discourses that break into the private sphere and ­ at the same time ­ amalgamate with social, environmental, economic, political, and other problems that even lead epidemiologists themselves to new reflections they thought already overcome. But also, within this context positive issues are unveiled, like solidarity, reflecting on consumerism, and caring for nature.

Risk factors for mental workload: influence of the working environment, cardiovascular health and lifestyle. A cross-sectional study.

OBJECTIVES: Mental workload is a condition which can negatively influence the overall health of workers. In this study, we aimed to investigate the risk factors for the onset of mental workload, including working conditions, cardiovascular comorbidities and lifestyle habits, in a working population. METHODS: This is a cross-sectional study including 408 workers from a risk prevention service of small/medium companies in Murcia (Spain). Workers from the secondary and tertiary sectors or primary/secondary sectors with administrative management tasks who underwent a routine medical examination between 1 January 2017 and 31 April 2017 were included. Workers from the primary sector and construction were excluded to avoid a sex and age bias. RESULTS: From 408 workers, 206 (50.5%) were females; with mean age 36.8±10.4 years. 164 (40.2%) workers had a moderate to significant risk of mental workload. Based on multivariate logistic regression analyses, independent predictors of mental workload were age ≥30 years (OR 2.42, 95% CI 1.22 to 4.80; p=0.012), working in tertiary (OR 7.89, 95% CI 3.59 to 17.31; p<0.001) or administrative sectors (OR 87.57, 95% CI 35.22 to 217.79; p<0.001) and alcohol consumption (OR 2.08, 95% CI 1.16 to 3.73; p=0.014). Smoking habit (OR 0.47, 95% CI 0.26 to 0.85; p=0.012) was found as a protective variable so non-smoking was considered as a risk factor. CONCLUSION: In the present study from a risk prevention service including workers of small/medium companies from the secondary and tertiary sectors and workers with administrative tasks, the labour sector, age, alcohol consumption and smoking habits, are independently associated with a higher risk of developing moderate to significant mental workload.

Biochemical and Biophysical Characterization of the Enolase from Helicobacter pylori.

Enolase, which catalyses the conversion of 2-phospho-D-glycerate to phosphoenolpyruvate, is an important enzyme in the classic glycolysis pathway in cells. Enolase is highly conserved in organisms from bacteria to humans, indicating its importance in cells. Thus, enolase is a good target for developing new drugs. In the last decade, new functions of this enzyme have been found. Helicobacter pylori is a common human pathogen that causes gastric diseases and even gastric cancer. In this study, the sequence of H. pylori enolase (HpEno) was analysed; the conservation (at least partial) of binding sites for cofactor, plasminogen, and host extracellular RNA, as well as catalytic site, indicates that HpEno should be capable of performing the functions. Recombinant HpEno was overexpressed and purified from E. coli. Compared to the enolases from other species, HpEno had similar characteristics for its secondary structure. The temperature-induced profiles indicate that HpEno is quite stable to temperature, compared to other homologs. Regarding the kinetics of the unfolding reaction, we found that the activation enthalpy associated with the thermal unfolding reaction is equivalent to the reported activation enthalpy for yeast enolase, indicating a similar scaffold and kinetic stability. Although a wide range of experimental conditions were assayed, it was not possible to detect any enzymatic activity of HpEno. To prove the lack of activity, still a much wider range of experiments should be carried out.

Feocromocitoma quístico gigante: reporte de un caso / Pheochromocytoma giant cystic: a case report

El feocromocitoma quístico gigante es tumor adrenal raro en el que predomina el curso asintomático; por lo que muchos de los casos no son diagnosticados hasta el momento de la cirugía. La simple movilización del tumor se asocia con el paso a la sangre de grandes cantidades de catecolaminas y a una elevada morbimortalidad.; por esta razón la cirugía per se y su manejo perioperatorio constituyen un enorme desafío. En este artículo se presenta el caso de un feocromocitoma gigante maligno (35 cm) que ocupaba todo el hemiabdomen derecho. Aun con el diagnóstico preoperatorio de feocromocitoma, el bloqueo farmacológico preoperatorio y las medidas intraoperatorias, el paciente falleció poco antes de que finalizara la cirugía.

The giant cystic pheochromocytoma is a rare adrenal tumor in the predominantly asymptomatic course; so many cases are not diagnosed until the time of surgery. The simple mobilization of the tumor is associated with the passage to the blood of large amounts of catecholamines and high morbidity and mortality. So the surgery itself and perioperative management are a huge challenge. This article describes the case of a malignant giant pheochromocytoma (35 cm) which occupied the entire right abdomen. Even with the preoperative diagnosis of pheochromocytoma, pharmacological blockade preoperative and intraoperative measures, the patient died shortly before the end of surgery.

Novel protein interactions with an actin homolog (MreB) of Helicobacter pylori determined by bacterial two-hybrid system.

The bacterium Helicobacter pylori infects more than 50% of the world population and causes several gastroduodenal diseases, including gastric cancer. Nevertheless, we still need to explore some protein interactions that may be involved in pathogenesis. MreB, an actin homolog, showed some special characteristics in previous studies, indicating that it could have different functions. Protein functions could be realized via protein-protein interactions. In the present study, the MreB protein from H. pylori 26695 fused with two tags 10×His and GST in tandem was overexpressed and purified from Escherchia coli. The purified recombinant protein was used to perform a pull-down assay with H. pylori 26695 cell lysate. The pulled-down proteins were identified by mass spectrometry (MALDI-TOF), in which the known important proteins related to morphogenesis were absent but several proteins related to pathogenesis process were observed. The bacterial two-hybrid system was further used to evaluate the protein interactions and showed that new interactions of MreB respectively with VacA, UreB, HydB, HylB and AddA were confirmed but the interaction MreB-MreC was not validated. These results indicated that the protein MreB in H. pylori has a distinct interactome, does not participate in cell morphogenesis via MreB-MreC but could be related to pathogenesis.

Sinergias y continuidades en las políticas públicas relacionadas con enfermedades cardio-cerebro-vasculares. Medellín, Colombia, 2000-2013 / Synergies and Continuities in Public Policies Related to Cardio-cerebrovascular Diseases. Medellín, Colombia, 2000-2013 / Sinergias e continuidades nas políticas públicas relacionadas com doenças cárdio-cerebro-vasculares. Medellín, Colômbia, 2000-2013

Resumen Objetivo: analizar sinergias y continuidades entre acuerdos municipales relacionados con enfermedades cardio-cerebro-vasculares en Medellín, Colombia entre 2000-2013, como un proceso que trasciende la formalización del discurso. Metodología: estudio cualitativo, se revisaron 57 acuerdos y se realizaron doce entrevistas semiestructuradas a actores clave. Hallazgos: la formulación de algunos acuerdos partió de orientaciones externas o del diagnóstico local, lo que muestra continuidad y coherencia en la secuencia del ciclo de la política. Con respecto a la sinergia, proponen acciones para impactar positivamente las decisiones tomadas: construcción de alianzas y redes en los distintos niveles; desarrollo de estrategias de información, educación y comunicación; estímulo a la participación ciudadana y mejoramiento del acceso a la atención en salud. Conclusión: el análisis implicó considerar relaciones entre políticas que contemplen acciones que incidan en las enfermedades cardio-cerebro-vasculares y posibiliten su continuidad por las condiciones presupuestales, administrativas y de ejecución.

Abstract Objective: to analyze synergies and continuities between municipal agreements related to cardio-cerebrovascular diseases in Medellín, Colombia between the years 2000-2013, as a process that goes beyond the formalization of discourse. Methodology: qualitative study, 57 agreements were reviewed and twelve semi-structured interviews were conducted with key stakeholders. Findings: the formulation of some agreements was based on external orientations or local diagnosis, which shows continuity and coherence in the sequence of the policy cycle. Regarding synergy, they propose actions to positively impact the decisions taken: building alliances and networks at different levels; development of information, education, and communication strategies; fostering citizen participation, and improving access to health care. Conclusion: the analysis involved considering relationships between policies that contemplate actions that have an effect on cardio-cerebrovascular diseases and enable their continuity given the budgetary, administrative, and implementation conditions.

Resumo Objetivo: analisar sinergias e continuidades entre acordos municipais relacionados com doenças cárdio-cerebro-vasculares em Medellín, Colômbia entre 2000-2013, como processo que transcende a formalização do discurso. Metodologia: estudo qualitativo, 57 acordos foram revistos e realizaram-se doze entrevistas semiestruturadas a atores chave. Achados: a formulação de alguns acordos partiu de orientações externas ou do diagnóstico local, o que mostra continuidade e coerência na sequencia do ciclo da política. No que diz respeito da sinergia, propõem ações para impactar positivamente as decisões tomadas: construção de parcerias e redes nos diferentes níveis; desenvolvimento de estratégias de informação, ensino e comunicação; estímulo à participação cidadã e melhoramento do acesso à atenção em saúde. Conclusão: a análise envolveu considerar relacionamentos entre políticas contemplando ações que incidirem nas doenças cárdio-cerebro-vasculares e possibilitarem a sua continuidade pelas condições orçamentarias, administrativas e de execução.

[Pheochromocytoma giant cystic: a case report]. / Feocromocitoma quístico gigante: reporte de un caso.

The giant cystic pheochromocytoma is a rare adrenal tumor in the predominantly asymptomatic course; so many cases are not diagnosed until the time of surgery. The simple mobilization of the tumor is associated with the passage to the blood of large amounts of catecholamines and high morbidity and mortality. So the surgery itself and perioperative management are a huge challenge. This article describes the case of a malignant giant pheochromocytoma (35 cm) which occupied the entire right abdomen. Even with the preoperative diagnosis of pheochromocytoma, pharmacological blockade preoperative and intraoperative measures, the patient died shortly before the end of surgery.

Colonic obstruction caused by endometriosis solved with a colonic stent as a bridge to surgery.

Self-expanding metal stents are an established treatment for malignant colon strictures, either as palliative treatment or as a bridge to later surgery. Little data exist regarding the use of stents for benign obstructions and the rate of subsequent complications related to the procedure is high. After reviewing the existing literature, we found only one case of stent placement in an intestinal obstruction caused by endometriosis, as a bridge to surgery. The use of prostheses in benign disease has a higher rate of complications such as stent migration and gut perforation. Such complications are even more likely to happen when the stent has been placed as a bridge to surgery and it is delayed for more than 7 days. This is the case of a young woman presenting an acute intestinal obstruction related to endometrioma. Stent placement was used in this case as a bridge to surgery with successful results.

Delimitación de fronteras como estrategia de control social: el caso de la violencia homicida en Medellín, Colombia / Marking bourdaries as a strategy of social control: the case of homicidal violence in Medellin, Colombia

En el marco de un estudio realizado entre 2003 y 2011 para comprender escenarios de violencia homicida a partir de la percepción del hecho violento y su contexto, se reflexiona sobre el sentido de las "fronteras invisibles" en barrios de Medellín (Colombia). Desde un enfoque cualitativo que combina revisión documental y entrevistas, se analiza la experiencia vivida por ocho participantes. Entre los principales resultados se destaca que el control barrial es ejercido por distintos actores; que las fronteras no son visibles para el común de las personas, sino que son demarcaciones en las que son reclutadas y controladas, y que consolidan estrategias para recaudar recursos económicos de forma ilegal y regular las actividades culturales y sociales de los habitantes, lo cual repercute en la dinámica y los imaginarios sociales. De este modo, se controlan los territorios, las amistades y los afectos de víctimas jóvenes -que no se vinculan a grupos ilegales y/o no tienen "información"- y de adultos mayores indefensos.

As part of a research study undertaken in the period 2003-2011 to understand situations of homicidal violence based in perceptions regarding the act of violence and the surrounding context, we reflect on the meaning of "invisible bourdaries" in the neighborhoods of Medellin (Colombia). Using a qualitative approach that combines documentary sources and interviews, the experiences of 8 participants are analyzed. In the primary results we can see how control over neighborhoods is exercised by different actors through bourdaries not visible to ordinary people. Nevertheless, around these lines people are recruited and controlled and strategies to illegally generate economic resources and to regulate the cultural and social activities of inhabitants are consolidated, thus affecting the social dynamics and imaginary of the neighborhood. In this way, the territories, friendships, and affects of young victims - who are not linked to illegal groups and/or do not have "information" - and of defenseless older adults are controlled.

Escenarios de violencia: interpretación de las lesiones no fatales, Colombia / Scenarios of violence: interpretation of nonfata injuries, Colombia

Objetivo: construir escenarios de violencia por lesiones intencionales no fatales en el departamento de Antioquia, Colombia, a partir de casos atendidos en 12 hospitales de diferentes niveles de atención, en 2007. Métodos: Se combinaron elementos de distintos enfoques cualitativos que permiten describir el contexto (etnografía); hacer una doble interpretación de los hechos, desde el actor y el investigador (hermenéutica), y construir los escenarios de violencia, mediante entrevistas a 87 lesionados en hechos violentos. Resultados: La mayoría de las agresiones ocurrieron en hombres, de 20 a 49 años de edad, residentes en áreas urbanas, trabajadores informales; sucedieron entre viernes y domingo, en medio de una riña en la vía pública o en un establecimiento público; fueron ocasionadas por armas cortopunzantes, cortantes o contundentes, y fueron por un conocido, amigo o familiar. Los escenarios construidos ayudan a comprender el fenómeno de la violencia en el departamento y las diferencias entre regiones. Estos fueron: apropiación de bienes, reivindicación económica o moral, lesión por azar, conflictos personales, control social, fracaso en la tramitación de los conflictos dentro de la familia, agresión a símbolo identitario, sobrevivencia y coexistencia de prácticas o normas con actores armados. Conclusión: Con los escenarios se identifican procesos sociales fundamentales; sin embargo, su delimitación no es definitiva, hay imbricaciones entre ellos, lo que muestra su complejidad en el departamento...

Objective: To build scenarios of violence caused by nonfatal intentional injuries in the Province of Antioquia (Colombia), based on cases managed in 12 hospitals of different care levels in 2007. Methodology: Different qualitative approach elements were combined to allow describing the context (ethnography); to make double interpretation of the events, from the actor and the investigator (hermeneutics), and to construct the scenarios of violence by means of inteviews with 87 subjects injured in violent events. Results: Most of the aggressions occurred in males between 20 and 49 years of age, living in urban areas and with no formal employment. The attacks happened between Friday and Sunday, in the middle of a fight in the street or a public establishment. The injuries were caused by stabbing, slashing or blunt weapons and usually by sombody known to the victim, a friend or a relative. Such scenarios help to understand the violence in Antioquia and the differences between regions. These were: conversion, economic or moral claim, random injury, personal conflicts, social control, failure in managing intra-family conflicts, aggression as an identity symbol, survival and coexistence of practices or norms with armed actors. Conclusion: By means of these scenarios fundamental social processes are identified. However, their boundaries are not definitive overlappings exist between them, showing their complexity in this Province...

La salud como derecho en Colombia: 1999-2007 / A saúde como direito na Colômbia: 1999-2007 / Right to health in Colombia: 1999-2007

Se presenta un estado del arte basado en producción publicada sobre la salud como derecho en la última década. La metodología, enmarcada en el enfoque Cualitativo, utiliza técnicas de análisis de contenido y de discurso. Se aplicaron instrumentos con descriptores como: objetivos, temáticas, actores, enfoque y resultados. De los hallazgos pueden destacarse preocupaciones por la agudización de la crisis hospitalaria, el problema laboral y su relación con la salud, las barreras de acceso a los servicios y el deterioro de la salud pública. El estudio muestra dos perspectivas para configurar la política de salud: la libertad de mercado como mejor opción para asegurar la atención a la salud o la garantía de la salud desde el Estado como responsable fundamental.

We are presenting a state of art based on published books and articles on health as a right in the last decade. The methodology is part of the qualitative approach, using techniques of content analysis and discourse analysis. We applied instruments with descriptors such as: objectives, themes, actors and results. Among the findings may highlight concerns over the worsening of the hospital crisis, the labor problem and its relation to health, access barriers to services and the deteriorating situation of public health The balance shows two perspectives to set health policy: the free market as the best option to ensure the health attention or the guarantee of health from the State as a fundamental responsable.

Apresenta-se um estado da arte baseado na produção publicada sobre a saúde como direito na ultima década. A metodologia enfoca um estudo qualitativo, utilizando técnicas de análise de conteúdo e discurso. Utilizaram-se instrumentos com descritores como: objetivos, temáticas, atores, enfoque e resultados. Dos resultados, destacam-se: preocupações pelo crescimento da crise hospitalaria, o problema laboral e sua relação com a saúde, as barreiras de acesso aos serviços, e o deterioro da saúde pública. O estudo ilustra duas perspectivas para configurar a política de saúde: a liberdade do mercado como melhor opção para segurar a atenção à saúde; ou a garantia da saúde desde o Estado como responsável fundamental.

Por el derecho a morir de viejos / For the right to die of old age / Pelo direito a morrer de velhos

Se analiza el comportamiento de la mortalidad en una región colombiana, destacando hallazgos relacionados con las causas de muerte evitable y su contribución a la esperanza de vida.Entre 1980 y 2000 predominan las muertes violentas, principalmente homicidios de hombres jóvenes. Esto hace pensar que existe una problemática social poco combatida o controlada. La eficacia de políticas públicas para garantizar la salud y contribuir a evitar la mortalidad queda en entredicho, porque más del 55 porciento de las muertes fueron evitables. Reivindicar la vida es considerar el proceso social en términos de dotaciones y capacidades, es reconocer procesos históricos que caracterizan la región con una marcada exclusión social, económica y política,que ha facilitado la presencia de diversas formas de violencia.

The behavior of the mortality is analyzed in a Colombian region, highlighting discoveries related with the causes of avoidable death and its contribution to the hope of life. Among 1980-2000 the violent deaths prevail, mainly homicides of young men, this makes to think that there is a socialproblem that is low fighted or controlled. The effectiveness of a public policy to guarantee the health and to contribute to avoid a bigger mortality it is in interdict when more than 55% of the deaths could be avoided. To claim the life is to consider the social process in terms of endowments, capacities, it is to recognize the historical processes of the region which characterize it as area of high exclusion that has facilitated the presence of diverse forms of violence.

Matriz de procesos críticos: propuesta para estudiar condiciones de vida y salud / Critical processes matrix: A proposal to study life and health conditions

Objetivo: Presentar elementos teórico-metodológicos delestudio de condiciones de vida y salud en el municipio deMarinilla, Colombia, con base en una matriz de procesoscríticos. Material y métodos: Análisis documental histórico, aplicación de ficha familiar a 4284 familias, talleres con líderes comunitarios e institucionales, entrevistas a actores clave, análisis de planes y programas municipales.Resultados: Condiciones protectoras: riqueza cultural,conservación de tradiciones artísticas; proyectos de vivienda; promotores ambientales y juntas administradorasde acueductos en zona rural; programas de gestores ypromotores de salud. Condiciones de deterioro: Dimensióndel trabajo: Grupos urbano y rural con alto deterioro, gran inestabilidad laboral, baja calificación, jornadas laborales extensas. Dimensión del consumo: grupos urbano y rural con alto deterioro sin vivienda propia; viviendas rurales y deterioradas sin electrificación. Entorno: Contaminación ambiental, especialmente en el barrio más pobre; grupo rural con gran contaminación de las fuentes de agua y deforestación. Proceso salud enfermedad: Problemas comunes: Desnutrición infantil, enfermedad respiratoria y diarreica aguda, hipertensión arterial, diabetes, cáncer; intoxicaciones por plaguicidas, lesiones, accidentes, abuso sexual, muerte violenta mayor frecuencia en grupo rural con alto deterioro. Conclusiones: La matriz es una propuesta teórico-metodológica útil para investigadores sociales, administradores municipales y sector salud, porque articula el conocimiento de las necesidades de poblaciones diferenciadas por grupos, con proyectos políticos y vigilancia de condiciones de vida medianteprocesos participativos.

La dinámica de las políticas públicas a través de los servicios y prácticas en salud / The dynamics of publics politics through the services and practices of health

En este artículo se hace una reflexión acerca de las posibilidades de consolidar políticas públicas en la perspectiva del derecho a la salud a través de los servicios y las prácticas en salud. El objetivo es recuperar algunos elementos que son marco de referencia para comprender la lógica profesional y la participación de los trabajos de la salud, en el diseño de las políticas que rigen hoy la realidad de la salud en el país. La metodología utilizada para este trabajo, se centra en una revisión analítica de estudios e investigaciones realizadas tanto por las autoras como por otros investigadores. se concluye que una política pública que reconozca la salud como derecho, exige del sujeto que cuida y del sujeto cuidado hacer explícita la identidad profesional, las representaciones, la interacción social y la necesaria creación de espacios de formación y laborales, acordes con la problemática de salud-emfermedad-atención y con las necesidades socio sanitarias de la población.

Factores de riesgo de lesión por accidentes de tráfico y el impacto de una intervención sobre la carretera / Risk factors of injury by traffic accidents and the impact of an intervention of the road

Objetivo: Avaliar o efeito das intervençöes em uma rodovia, na ocorrência e gravidade de ferimentos por acidente. Métodos: Foi feita uma análise comparativa de dois estudos transversais em 1994 e 1996. Resultados: Em 1994, a taxa foi de 7,96 acidentes/100.000 veículos e em 1996, 8,49/100.000 veículos. O aumento näo foi significante (p>0,05). O índice de motoristas feridos em 1994 foi de 2,10/100.000 veículos e de 1,35/100.000 veículos em 1996, o que representa uma reduçäo (p<0,000). A notificaçäo espontânea do uso de cinto de segurança (63,46 por cento contra 76,6 por cento), o número de veículos de pequeno porte acidentados (7,9 por cento contra 37,7 por cento), o trânsito em horário noturno (23,7 por cento contra 31,8 por cento) e a direçäo no sentido México-Cuernavaca (45 por cento contra 66,7 por cento) foram maiores em 1996 (p<0,05). O risco de ferimento - usando um modelo de regressäo logística - entre motoristas expostos a intervençöes (1996) e motoristas näo expostos (1994) ajustados por: idade, velocidade, uso do cinto de segurança, ingestäo de álcool e causas externas mostrou um efeito protetor das intervençöes na rodovia. Conclusäo: Há uma evidente necessidade de abordagem multisetoriais no estudo e na avaliaçäo das intervençöes no campo dos acidentes de trânsito, sendo o presente estudo um exemplo claro das repercusöes sobre a saúde geradas pelas intervençöes desenvolvidas pelo setor de transportes na rodovia