ABSTRACT
Hereditary diffuse leukoencephalopathy with spheroids (HDLS) is a rare autosomal dominant disease characterized by giant neuroaxonal swellings (spheroids) within the cerebral white matter (WM). Symptoms are variable and can include cognitive, mental and motor dysfunctions. Patients carry mutations in the protein kinase domain of the colony-stimulating factor 1 receptor (CSF1R) which is a tyrosine kinase receptor essential for microglia development. To date, more than 50 pathogenic variants have been reported in patients with HDLS, including missense, frameshift and non-sense mutations, but also deletions and splice-site mutations, all located in the intracellular tyrosine kinase domain, encoded by exons 12-22. The aim of this paper is to review the literature data about the molecular genetic pattern of HDLS.
Subject(s)
Genetic Predisposition to Disease/genetics , Leukoencephalopathies/genetics , Molecular Biology , Polymorphism, Single Nucleotide/genetics , Humans , Leukoencephalopathies/diagnosis , Receptor, Macrophage Colony-Stimulating Factor/geneticsABSTRACT
Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS) is an autosomal dominant cerebral white matter degeneration leading to progressive cognitive and motor dysfunction. The peripheral nervous system is generally spared. Recently, mutations in the colony-stimulating factor-1 receptor (CSF1R) gene have been shown to be associated with HDLS. Here we report a new case of HDLS, carrying a mutation in CSF1R and manifesting rapidly progressive dementia and peripheral neuropathy.
Subject(s)
Brain/pathology , Leukoencephalopathies/genetics , Leukoencephalopathies/pathology , Mutation , Receptor, Macrophage Colony-Stimulating Factor/genetics , Adult , Brain/physiopathology , Humans , Leukoencephalopathies/physiopathology , Leukoencephalopathies/therapy , Magnetic Resonance Imaging , MaleABSTRACT
Starting from historical records attempts to identify the events which made possible the creation and regulation of Welfare Student Department. A Decade of 60 and 70 was fruitful for starting and development of first institutional politics designed to attend the health and welfare of students. In that way, the actions of Welfare Student Direction and Vocational Guidance focus their objective to bring on welfare, permanence, development of university student. It stand out the accent put it on the integral health exam of students, the concern about the empty in his cultural training, the possibility of make it easier vocational support and the execution of health insurance.
A partir de registros históricos se intenta identificar los acontecimientos que hicieron posible la creación y reglamentación del Departamento de Bienestar Estudiantil. La década del 60-70 fue un período fructífero para el inicio y desarrollo de las primeras políticas institucionales orientadas a atender la salud y el bienestar de los estudiantes. Por tal motivo, las acciones de la Dirección General de Bienestar Estudiantil y de Orientación Vocacional focalizan su objetivo en favorecer el bienestar, permanencia y desarrollo del estudiante universitario. Se destacan el énfasis puesto en el examen integral de salud del estudiante, la preocupación por el vacio en su formación cultural, la posibilidad de facilitarle apoyo vocacional y la impostergable implementación del seguro de salud.
Subject(s)
Student Health Services/history , Universities/history , Argentina , History, 20th Century , HumansABSTRACT
Starting from historical records attempts to identify the events which made possible the creation and regulation of Welfare Student Department. A Decade of 60 and 70 was fruitful for starting and development of first institutional politics designed to attend the health and welfare of students. In that way, the actions of Welfare Student Direction and Vocational Guidance focus their objective to bring on welfare, permanence, development of university student. It stand out the accent put it on the integral health exam of students, the concern about the empty in his cultural training, the possibility of make it easier vocational support and the execution of health insurance.
Subject(s)
Student Health Services/history , Universities/history , Argentina , History, 20th Century , HumansABSTRACT
Starting from historical records attempts to identify the events which made possible the creation and regulation of Welfare Student Department. A Decade of 60 and 70 was fruitful for starting and development of first institutional politics designed to attend the health and welfare of students. In that way, the actions of Welfare Student Direction and Vocational Guidance focus their objective to bring on welfare, permanence, development of university student. It stand out the accent put it on the integral health exam of students, the concern about the empty in his cultural training, the possibility of make it easier vocational support and the execution of health insurance.
Subject(s)
Student Health Services/history , Universities/history , Argentina , History, 20th Century , HumansABSTRACT
La Educación Superior y los educadores tienen como desafío tomar conciencia de la importancia, que los alumnos de la Universidad se reconozcan como personas con identidades sólidas y autónomas. Por ello, se considera central generar herramientas que posibiliten y faciliten la apertura a una realidad que promueva la inserción del estudiante en el contexto actual. La Orientación Vocacional es una tarea de proyección preventiva asistencial, en el campo de la salud integral y en la educación; Se constituye en una investigación psicosocial tendiente a relacionar lo individual e institucional, lo educativo y social, el proyecto personal y el proyecto económico, las necesidades personales de formación y las necesidades políticas de oportunidades educativas. En el marco de esta investigación se planteó el objetivo de analizar los factores que se presentan e intervienen en la problemática vocacional de los jóvenes aspirantes a la carrera de Medicina de la Facultad de Ciencias Médicas de la Universidad Nacional de Córdoba. El presente trabajo es un estudio transversal, analítico de carácter correlacional y explicativo, que se abordó metodológicamente, a partir de una encuesta implementada a 1857 aspirantes. Para el análisis de los datos, se procedió en varias etapas: análisis univariado, análisis bivariado y análisis de interdependencia de variables empleando el método factorial de correspondencia múltiple, el cual generó agrupamiento de atributos similares de los sujetos.
Summary: It is a challenge for the higher education and the educators to be aware of the importance that the students of the university recognize themselves as people with a solid and autonomous identity. Because of this, it is considered central to give tools that make it possible and facilitate the opening to a reality that promotes the insertion in the current context. The Vocational Orientation is a tusk with a preventive assistential projection, in the healthcare field as well as in education, constitutes a psychosocial investigation that tends to relate the individual and the institutional fields, the educational and the social ones, the personal project and the economic project, the personal formation needs and the educational opportunities of political needs. In this context we raised the objective to analyze the factors that are present and intervene in the vocational problematic of young applicants to the Career of Medicine in the Faculty of Medicine in the National University of Córdoba. This is a transversal analytic study, with a correlational and explicative character, which was addressed methodologically. We worked with the database generated in the vocational orientation survey implemented to 1857 applicants.
Subject(s)
Humans , Male , Female , Universities , Health Promotion , Vocational Guidance , Vocational Education , ArgentinaABSTRACT
This article describes a modification of the conventional membrane crystallization technique in which a membrane is used to dose the solvent/antisolvent composition to generate supersaturation and induce crystallization in a drug solution. Two operative configurations are proposed: (a) solvent/antisolvent demixing crystallization, where the solvent is removed in at higher flow rate than the antisolvent so that phase inversion promotes supersaturation and (b) antisolvent addition, in which the antisolvent is dosed into the crystallizing drug solution. In both cases, solvent/antisolvent migration occurs in vapor phase and it is controlled by the porous membrane structure, acting on the operative process parameters. This mechanism is different than that observed when forcing the liquid phases through the pores and the more finely controllable supersaturated environment would generate crystals with the desired characteristics. Two organic molecules of relevant industrial implication, like paracetamol and glycine, were used to test the new systems. Experiments demonstrated that, by using antisolvent membrane crystallization in both configurations, accurate control of solution composition at the crystallization point has been achieved with effects on crystals morphology.
