Research, diagnosis and education in inborn errors of metabolism in Colombia: 20 years' experience from a reference center.

The use of specialized centers has been the main alternative for an appropriate diagnosis, management and follow up of patients affected by inborn errors of metabolism (IEM). These centers facilitate the training of different professionals, as well as the research at basic, translational and clinical levels. Nevertheless, few reports have described the experience of these centers and their local and/or global impact in the study of IEM. In this paper, we describe the experience of a Colombian reference center for the research, diagnosis, training and education on IEM. During the last 20 years, important advances have been achieved in the clinical knowledge of these disorders, as well as in the local availability of several diagnosis tests. Organic acidurias have been the most frequently detected diseases, followed by aminoacidopathies and peroxisomal disorders. Research efforts have been focused in the production of recombinant proteins in microorganisms towards the development of new enzyme replacement therapies, the design of gene therapy vectors and the use of bioinformatics tools for the understanding of IEM. In addition, this center has participated in the education and training of a large number professionals at different levels, which has contributed to increase the knowledge and divulgation of these disorders along the country. Noteworthy, in close collaboration with patient advocacy groups, we have participated in the discussion and construction of initiatives for the inclusion of diagnosis tests and treatments in the health system.

Microneedling dilates the follicular infundibulum and increases transfollicular absorption of liposomal sepia melanin.

Encapsulation of chemicals in liposomes and microneedling are currently used techniques to enhance the penetration of several substances through skin and hair. In this study, we apply a liposomal melanin-fluorescein compound to an ex vivo model of human skin, using a new electrical microneedling device (Nanopore turbo roller). The product was applied by hand massage (A) or with the assistance of the electrical roller for 2 minutes (B). An additional test was performed free of product and with only the E-roller (C). Histological changes and product absorption were evaluated by optical and fluorescent microscopy 60 and 90 minutes after the treatment. Site B showed larger deposits of melanin-fluorescein at superficial and deep levels of hair structures in comparison to site A. Light, epidermal deposits of the melanin-fluorescein complex were also observed. Sites B and C showed a significant widening (47%) of the follicular infundibulum which could explain the increased penetration of the formulation. Microneedling also removed the scales and sebum residues in the neighborhood of the infundibulum. Targeting hair follicles with melanin may be useful to dye poorly pigmented hairs, improving laser hair removal. The procedure accelerates the delivery of melanin into hair structures allowing an even absorption, larger pigment deposits, and deeper penetration of the formulation into the hair.

Nivel de estrés laboral en el profesional de enfermería de Centro Quirúrgico del Hospital Nacional Dos de Mayo - 2010 / Level of work stress in the professional of nursing of Surgical Center of the National Hospital Two of May - 2010

El objetivo fue; determinar el nivel de estrés laboral en enfermeras según dimensiones de cansancio emocional, baja realización personal y despersonalización. Material y Método: El estudio fue de nivel• aplicativo, tipo cuantitativo, método descriptivo simple de corte transversal. La población estuvo conformada por 17 enfermeras asistenciales que laboran en el servicio de centro quirúrgico. La técnica fue la encuesta autoadministrada y el instrumento el inventario de Maslach adaptado, considerando el consentimiento informado. Resultados: Del 100 por ciento (17), 88 por ciento (15) tienen nivel de estrés medio, 6 por ciento (1) nivel bajo y 6 por ciento (1) alto; en cuanto a la dimensión agotamiento emocional 94 por ciento(16), tienen nivel de estrés bajo, 6 por ciento(1) medio y 0 por ciento(0) alto; en la dimensión despersonalización 82 por ciento(14) nivel bajo, 12 por ciento(2) medio y 6 por ciento(1) alto; y en la dimensión realización personal 88 por ciento(15) es alto, 6 por ciento(1) medio y 6 por ciento(1) bajo. Conclusiones: El nivel de estrés que experimentan las enfermeras de centro quirúrgico en su mayoría presentan un nivel de estrés laboral "medio", mientras que en la dimensión agotamiento emocional y despersonalización la mayoría tienen un nivel de estrés "bajo" y en cuanto a la realización personal la mayoría de las enfermeras expresan que es "alto", por lo que podría repercutir en la calidad de atención al paciente quirúrgico.

The goal was, to determine the level of work stress in nurses as emotional exhaustion, reduced personal accomplishment and depersonalization. Material and Methods: The study was application level, quantitative, simple descriptive method of cross section. The population consisted of 17 c1ínical nurses working in surgical center service. The technique was self-administered survey and inventory of Maslach instrument adapted, given informed consent. Results: 100 per cent (17), 88 per cent (15) have moderate stress level, 6 per cent (1) low and 6 per cent (1) high, in terms of emotional exhaustion dimension 94 per cent (16), are granted under stress, 6 per cent (1) medium and 0 per cent (0) high, in the depersonalization dimension 82 per cent (14) low, 12 per cent (2) medium and 6 per cent (1) high, and the realization dimension 88 per cent (15) is high, 6 per cent (1) medium and 6 per cent (1) low. Conclusions: Most nurses have an average stress level high, while the dimension emotional exhaustion and depersonalization most have a low stress level in the medium and how to carry out most of the staff nurses state that is high medium and low, which could affect the quality of surgical patient care.

Consentimiento informado en pacientes sometidos a cirugía por mínimo acceso / Informed consent in patients undergoing minimal access surgery

El convenio relativo a los derechos humanos y la biomedicina, elaborado por el consejo de Europa, más Canadá, Japón, Australia y la Santa Sede, aborda exhaustivamente el Consentimiento Informado (CI) como primera norma internacional dentro de los derechos humanos. El CI es el soporte documental de este proceso ofrecido por el médico y recibido por el paciente y familia sirviendo como fundamento legal y ético. Se realizó un estudio cuanticualitativo, descriptivo y prospectivo acerca del CI, proponiendo un formulario para las intervenciones quirúrgicas que se realizan por cirugía mínimo acceso. Se trabajó con el universo de las colecitectomía del 2do Trimestre año 2005. N = 225. 100 por ciento. Fueron incluidos todos los pacientes candidatos a esa intervención. Se excluyeron las demás intervenciones quirúrgicas realizadas en el servicio en ese mismo período. Se obtuvieron resultados excelentes ya que el 100 por ciento de los casos no rechazó la operación después de conocidos los riesgos, complicaciones y beneficios. El grado de satisfacción fue excelente. Se ofrecieron consideraciones finales que sintetizan los aspectos más relevantes del tema(AU)

Caracterización de un grupo de ancianos con fractura de cadera que requieron de medidas anestesiológicas

La fractura de cadera es frecuente a medida que se progresa en edad. Se calcula que por cada 100 000 personas, cerca de 100 sufren una fractura de cadera en un año. El tratamiento es quirúrgico para la mayoría de las personas requiere algún tipo de procedimiento anestésico. Se caracteriza este grupo de enfermos y correlacionan algunas variables de estudio. Se realizó un estudio prospectivo observacional de todos los pacientes de 60 años y más, con diagnóstico de fractura de cadera atendidos por el servicio de Anestesiología y Reanimación en el Hospital Dr Gustavo Aldereguia Lima de Cienfuegos en el primer bimestre del año 2006 que hicieron un total de 58 enfermos procedentes de diferentes áreas de salud de la provincia. El mayor número de los enfermos se encontraban en el grupo etáreos de 80-89años, con predominio del sexo femenino. Entre las enfermedades asociadas más frecuentes se encontró la hipertensión arterial. La anestesia espinal resultó la técnica más usada. La anemia fue la complicación que apareció en mayor número. La fractura de cadera presentó mayor incidencia en los ancianos mayores de 80 años, caracterizándose la muestra por concomitar con enfermedades asociadas. La anestesia subdural resultó una técnica anestésica segura por no detectarse complicaciones atribuibles a ella. El valor pronóstico del estado previo del enfermo, resultó estadísticamente significativo(AU)

Consentimiento informado en pacientes sometidos a cirugía por mínimo acceso / Informed consent in patients undergoing minimal access surgery

El convenio relativo a los derechos humanos y la biomedicina, elaborado por el consejo de Europa, más Canadá, Japón, Australia y la Santa Sede, aborda exhaustivamente el Consentimiento Informado (CI) como primera norma internacional dentro de los derechos humanos. El CI es el soporte documental de este proceso ofrecido por el médico y recibido por el paciente y familia sirviendo como fundamento legal y ético. Se realizó un estudio cuanticualitativo, descriptivo y prospectivo acerca del CI, proponiendo un formulario para las intervenciones quirúrgicas que se realizan por cirugía mínimo acceso. Se trabajó con el universo de las colecitectomía del 2do Trimestre año 2005. N = 225. 100 por ciento. Fueron incluidos todos los pacientes candidatos a esa intervención. Se excluyeron las demás intervenciones quirúrgicas realizadas en el servicio en ese mismo período. Se obtuvieron resultados excelentes ya que el 100 por ciento de los casos no rechazó la operación después de conocidos los riesgos, complicaciones y beneficios. El grado de satisfacción fue excelente. Se ofrecieron consideraciones finales que sintetizan los aspectos más relevantes del tema(AU)

The agreement in relation to human rights and biomedicine, signed by the European Council, Canada , Japan , Australia , and the Holy See deals exhaustively with the Informed Consent (IC) as the first international guideline within the human rights. The IC is the documentary support of this process provided by the physician and received by the patient and his family, serving as a legal and ethical foundation. A quantitative, qualitative, descriptive, and prospective study was made on the IC, and a questionnaire for the operations performed by minimal access surgery was proposed. Work was done with the universe of cholecistectomies of the 2 nd trimester in 2005. N = 225 (100%). All the patients candidate to this type of procedure were included. The rest of the operations carried out in the service in that same period of time was excluded. Excellent results were achieved, since 100% of the cases agreed with surgery after being notified about the risks, complications, and benefits. The satisfaction degree was excellent. Final considerations were offered to synthesize the most relevant aspects of the topic(AU)

Entamoeba histolytica: focal adhesion kinase and Erk phosphorylation are altered in the cytoskeleton mutant BG-3.

The Entamoeba histolytica mutant BG-3 has several altered cytoskeletal properties, including the distribution of actin and certain surface characteristics such as osmolarity and electrophoretic mobility. By Western blot analysis and assays for cell adhesion to collagen, we demonstrate that mutant BG-3 shows an increase in the phosphorylation levels of protein kinases that participate in proliferation, adhesion and migration, such as focal adhesion kinase and MAP kinase (Erk2), and that it has also altered its capacity of binding to collagen type I. These results indicate that E. histolytica cytoskeleton integrity plays an important role in adhesion and thus invasion of the host.

Flagella and Motility in Actinobacillus pleuropneumoniae.

Actinobacillus pleuropneumoniae has been considered nonmotile and nonflagellate. In this work, it is demonstrated that A. pleuropneumoniae produces flagella composed of a 65-kDa protein with an N-terminal amino acid sequence that shows 100% identity with those of Escherichia coli, Salmonella, and Shigella flagellins. The DNA sequence obtained through PCR of the fliC gene in A. pleuropneumoniae showed considerable identity (93%) in its 5' and 3' ends with the DNA sequences of corresponding genes in E. coli, Salmonella enterica, and Shigella spp. The motility of A. pleuropneumoniae was observed in tryptic soy or brain heart infusion soft agar media, and it is influenced by temperature. Flagella and motility may be involved in the survival and pathogenesis of A. pleuropneumoniae in pigs.

Actin-related proteins in Anabaena spp. and Escherichia coli.

Actin has been described in all eukaryotic cells as the major microfilament cytoskeletal protein. Although prokaryotic cells do not have a cytoskeleton, proteins related to the latter have been found in different prokaryotic species. We have found prokaryotic actin-related proteins in the enterobacterium Escherichia coli and in the cyanobacteria Anabaena cylindrica and Anabaena variabilis. They were identified by the following criteria: (1) by cross-reaction with a fluorescent conjugated anti-actin (rat-brain) mAb by Western blot analysis (in total cellular extracts); (2) specific binding of acetone powder and soluble cellular extracts to DNase I; and (3) specific binding of cells and total cellular extracts to phalloidin. In E coli, specific binding of phalloidin labelled with rhodamine to cells was detected by spectrofluorometry. In total cellular extracts, three bands of 60, 43 and 35 kDa were weakly recognized by the mAb by Western blot analysis; this recognition increased when phalloidin was added to the extracts. Furthermore, three polypeptides of kDa were isolated by binding to DNase I, showing pI values of 6.7, 6.65 and 6.6, less acidic than all reported actin pI values. In A. cylindrica and A. variabilis, specific binding of phalloidin labelled with rhodamine to cells was also detected by spectrofluorometry. In total and soluble cellular extracts, the mAb recognized two bands of 45 and 40 kDa by Western blot analysis, but only the first was purified by binding to DNase I, and it showed three isoforms of pI values 6.8, 6.5 and 6.4. These results suggest the presence, in prokaryotes, of proteins with similar biochemical characteristics to eukaryotic actin.