Factors Related to the Acute Cellular Rejection During the First Year After Heart Transplant.

INTRODUCTION: The acute cellular rejection is recognized as a factor related to the long-term viability of the heart graft. We intend to establish which factors are associated with the acute cellular rejection during the first year post heart transplant using a longitudinal model with repeated measures. METHODS: A retrospective cohort study was performed with all the patients who underwent heart transplant between 2005-2018 at the Hospital Universitario San Ignacio in Bogota, Colombia. In order to determine the factors associated with the development of acute cellular rejection, a generalized estimating equation approach was used, with an interchangeable correlation structure. The lowest value of quasi-likelihood information criterion and P < .05 was considered significant. RESULTS: Fifty-five patients (49.3 ± 11.1 years old) were included. The mortality during the first month was 16.3% and the accumulated mortality during the first year was 23.6%. The incidence of the acute cellular rejection was higher during the third month after the transplant (79.9%); most of them were acute cellular rejection grade 1. The factors associated with the development of the rejection were the cyclosporine levels out of the therapeutic range in several periods of evaluation (P < .03) and the age of the receptor (P = .049). CONCLUSIONS: Using advanced modeling methodologies of longitudinal data we identified that the factors associated with acute cellular rejection during the first year after the transplant are related to the therapeutic levels of the calcineurin inhibitor (cyclosporin) during the first 6 months of follow-up and the age of the receptor.

Análisis comparativo del micro-rayado en estrías de proyectiles calibre 7. 65 milímetros y 32 de fabricación Indumil: disparados con revólver Llama Cassidy calibre 32 largo / Comparative analysis of a micro-Grove 7. 65 and 32 millimeter projectile of Indumil manufacture, shot by a Cassidy 32 long Llama revolver / A análise comparativa de micro-aranhões em estrias dos projetils calibre 7. 65 milímetros e 32 da manufatura Indumil: atirados com revólver Llama Cassidy calibre 32 longo

Resumen El perito en balística de la Policía Nacional de Colombia, dentro de sus funciones, realiza el procedimiento de cotejo microscópico de vainillas y proyectiles disparados con armas de fuego, dentro del cual se encuentra el análisis de las características de clase, subclase e identidad a proyectiles cuya constitución no es la misma, como es el caso que se ha evidenciado, donde los cartuchos calibre 7.65 mm (para pistola) son utilizados en los revólveres calibre .32 largo; el objetivo del estudio es efectuar un análisis comparativo del micro-rayado de las estrías entre dichos proyectiles; se utilizó el método de observación científica, con enfoque cuantitativo de tipo comparativo, el cual permitió evidenciar que el nivel de uniprocedencias, al realizar cotejos entre estrías de proyectiles calibre 7.65 mm encamisado y .32 largo en plomo, es muy bajo; este resultado se logró documentar y consolidar en una tabla de datos, que al someterla al sistema estadístico obtuvo la cuantificación, disposición y análisis de las observaciones. Se llegó a la conclusión de que no es viable realizar cotejos microscópicos de proyectiles cuyas constituciones sean diferentes, como es el caso de las balas calibre 7.65 mm (encamisado) y .32 largo (plomo); de esta manera se orientan los procedimientos de los profesionales en balística.

Abstract The expert in ballistics of the National Police of Colombia, among its functions is in charge of performing performs the procedure of microscopic comparison of vanillas and projectiles shot with firearms, within which is the analysis of the class, subclass and identity features of projectiles with a constitution differing from each other like in the case having been demonstrated, where 7.65 mm caliber cartridges (for pistols) are used in .32 long caliber revolvers. The objective of the study is to carry out a comparative analysis between micro-scratching present in these projectiles; the scientific observation method was used with a quantitative approach allowing for demonstrating that the level of uni procedences or uni provenances at the time of making comparisons between out grooves of out comparing among to 7.65 mm jacketed he grooves said projectiles; the scientific observation was used, with a quantitative approach of a comparative type, which showed that the level of uni procedences or uni provenances at the time of carrying out en projectiles caliber 7.65 mm jacketed and .32 long lead, is very low; this result was documented and consolidated in a data table, which when subjected to the statistical system obtained the quantification, disposition and analysis of the observations. It was concluded that it is not feasible to perform microscopic comparisons of projectiles whose constitutions are different, as is the case with bullets caliber 7.65 mm (jacketed) and .32 long (lead); in this way the procedures of ballistics professionals are oriented.

Resumo O perito na balística da Policia Nacional da Colômbia, dentro das suas funções, faz o procedimento de comparação microscópica dos cartuchos e os projéteis disparados com armas de fogo, dentro da qual está a análise das características da classe, subclasse e da identidade aos projéteis cuja constituição não é a mesma, como é o caso que foi demonstrado, onde os cartuchos calibre 7.65 milímetros (para a pistola) são usados nos revólveres calibre .32 longo; o objetivo do estudo é realizar uma análise comparativa dos micro-aranhões das estrias entre estes projéteis; o método usado foi a observação científica, com aproximação quantitativa do tipo comparativo, que permitiu demonstrar que o nível das uni-procedências, quando fazer comparações entre estrias dos projéteis calibre 7.65 milímetros encamisado e .32 longo em chumbo, é muito baixo; este resultado logrou-se documentar e consolidar em uma tabela dos dados, que quando é submetida ao sistema estatístico obteve-se a quantificação, a disposição e a análise das observações. A conclusão foi que não é viável fazer comparações microscópicas dos projéteis cujas constituições são diferentes, como é o caso das balas calibre 7.65 milímetros (encamisado) e .32 longo (chumbo); assim os procedimentos dos profissionais na balística são orientados.

[Attention to diversity in emergency care]. / La atención a la diversidad en urgencias.

The immigrant population in general uses the health services less frequently than the native population. No significant differences are found between immigrants and natives in the use of emergency services. However, the perception of professionals who attend to the emergency services is that there is a greater use of these services by the immigrant population. Perhaps this is because difficulties of language and cultural understanding might require more effort and time in the care given to the immigrant patient. The doctor, who treats the immigrant population, as well as tourists and Spanish overseas voluntary workers, must become familiar with a series of pathologies, some of which might be exceptional among the native Spanish population, but which are endemic on some of the countries of origin of the immigrant population, frequently due to their lower socio-economic development. Some aspects to bear in mind in treating the immigrant patient might be as follows: avoiding the risk of minimising psychic complaints and explaining them away to uprootedness; if a diet or medicine is to be prescribed, the type of food and religious beliefs of the patient's country should be taken into account. The level of respect and the capacity to detect religious and cultural differences in relation to health care are fundamental tasks that the health professionals must assume with the greatest commitment in order to achieve care that is culturally appropriate in the face of diversity.

La atención a la diversidad en urgencias / Attention to diversity in emergency care

La población inmigrante en general utiliza con menorfrecuencia que la autóctona la mayoría de los serviciossanitarios. En la frecuentación de las urgencias generalesno se encuentran diferencias significativas entreautóctonos e inmigrantes. Sin embargo la percepción delos profesionales que atienden las urgencias es la mayorutilización de este servicio por la población inmigrante.Quizás esto sea debido a la dificultad idiomática y decompresión cultural puede requerir más esfuerzo y mástiempo en la atención al paciente inmigrante.El médico que atiende a población inmigrante, asícomo a turistas y cooperantes españoles, debe familiarizarsecon una serie de patologías, algunas de las cualespueden resultar excepcionales entre la población autóctona,pero que son endémicas en algunos de los paísesde procedencia de la población inmigrante, frecuentementedebido a su menor desarrollo socioeconómico.Algunos aspectos a tener en cuenta en la atenciónal paciente inmigrante pueden ser entre ellos el evitarel riesgo de minimizar las quejas psíquicas y achacarlastodas al desarraigo, o si se ha de prescribir una dietao algunos fármacos, tener en cuenta el tipo de alimentacióndel país del paciente y las creencias religiosas.El nivel de respeto y la capacidad de detección delas diferencias religiosas o culturales en relación conel cuidado de la salud, es una tarea fundamental quelos profesionales sanitarios deben asumir con el mayorcompromiso para lograr una atención culturalmenteapropiada ante la diversidad(AU)

The immigrant population in general uses thehealth services less frequently than the native population.No significant differences are found between immigrantsand natives in the use of emergency services.However, the perception of professionals who attend tothe emergency services is that there is a greater use ofthese services by the immigrant population. Perhapsthis is because difficulties of language and cultural understandingmight require more effort and time in thecare given to the immigrant patient.The doctor, who treats the immigrant population,as well as tourists and Spanish overseas voluntary workers,must become familiar with a series of pathologies,some of which might be exceptional among the nativeSpanish population, but which are endemic on someof the countries of origin of the immigrant population,frequently due to their lower socio-economic development.Some aspects to bear in mind in treating the immigrantpatient might be as follows: avoiding the riskof minimising psychic complaints and explaining themaway to uprootedness; if a diet or medicine is to beprescribed, the type of food and religious beliefs of thepatient’s country should be taken into account. Thelevel of respect and the capacity to detect religiousand cultural differences in relation to health care arefundamental tasks that the health professionals mustassume with the greatest commitment in order toachieve care that is culturally appropriate in the faceof diversity(AU)

Técnicas para el diagnóstico molecular de enfermedades hereditarias / Techniques for molecular diagnosis of hereditary diseases

El diagnóstico de muchas enfermedades hereditarias necesita una confirmación a nivel molecular del defecto genético que presenta el paciente. Una vez detectada la mutación y confirmado el diagnóstico clínico, podemos determinar cuál es el efecto de dicha mutación en la proteína codificada(cambio de conformación, alteración o pérdida defunción, localización errónea, disminución en su expresión, etc.), y así poder abrir puertas a nuevas terapias dirigidas al defecto específico. En esta revisión, primero consideraremos algunos conceptos básicos de genética molecular, incluyendo estructura y expresión del gen, intrones y exones, códigos genéticos, transcripción, traducción, procesamiento del RNA y mutaciones y sus tipos. También explicaremos algunos métodos para extraer DNA y RNA de sangre u otros tejidos del paciente. A continuación discutiremos los métodos que se emplean para detectar mutaciones en genes asociados a enfermedades hereditarias. El principio en el que se basa un ensayo de detección de mutaciones es que la secuencia de nucleótidos del gen de un individuo afecto será distinta de la secuencia de un individuo con fenotipo normal. Además, describiremos dos métodos para analizar el efecto de algunas mutaciones en la maduración del pre-mRNA (RT-PCR a partir de RNA de sangre y análisis de minigenes). Por último, mencionaremos algunos métodos informáticos que sirven para determinar si las mutaciones detectadas son patológicas o no, y para predecir el efecto de mutaciones en la maduración del pre-mRNA (AU)

The diagnoses of many hereditary diseases must be confirmed on a molecular level of a genetic defect that the patient has. Once the mutation is detected and the clinical diagnoses confirmed, we can determine which is the effect of said mutation in the coded protein (changing shape, alteration or loss of function, erroneous location, decrease of its expression, etc.) and just be able to open the doors to new therapies aimed at the specific defect. In this article, we first consider some basic concepts of molecular genetics, including the gene structure and expression, introns and exons, genetic codes, transcription, translation, RNA processing, and mutations and its types. We will also give some explanations of methods to extract DNA and RNA from the blood and other tissues of the patient. After that, we will discuss the methods used to detect mutations in genes associated to hereditary diseases. The principal on which a mutation detection trial is based is that this sequence of gene nucleotides of an individual affected will be different from the sequence of an individual with normal phenotype. In addition, we will describe two methods to analyze the effect of some mutations in the maturation of pre-mRNA(RT-PCR from RNA of the blood and analysis of minigenes). Finally, we will mention some computer methods that serve to determine if the mutations detected are pathological or not and to predict the effect of the mutations in the maturation of the pre-mRNA (AU)

Molecular analysis of the CLCN5 gene in Dent's disease: first mutation identified in a patient from South America.

BACKGROUND: Dent's disease is a rare renal tubular disorder characterized by low-molecular weight proteinuria, hypercalciuria, nephrocalcinosis, nephrolithiasis, rickets and eventual renal failure. The selective loss of low-molecular weight proteins points to a defect of the proximal tubule, where filtered proteins are normally reabsorbed by endocytosis. The disease tends to present in childhood or early adult life, and males are more severely affected than females. The disease is caused by mutations in CLCN5 or OCRL1, both on the X chromosome, which code for the chloride/proton exchange transporter ClC-5 and the phosphatidylinositol-4,5-biphosphate-5-phosphatase, respectively. METHODS: Mutational analysis of CLCN5 gene from 4 unrelated patients diagnosed with Dent's disease and their relatives, 3 from Spain and 1 from Bolivia, was performed by PCR and automatic DNA sequencing. RESULTS: In the current study, we report the identification of 4 mutations in CLCN5 of 1 family from Bolivia and 3 families from Spain. Two of the mutations are novel and consist of 1 nonsense mutation, Y502X, and 1 missense mutation, L225P, affecting ClC-5alpha-helix F, one of the helices involved in formation of the chloride selectivity filter. CONCLUSIONS: Our results add to the expanding spectrum of mutations in CLCN5. This is the first report of a CLCN5 mutation in a Dent's disease patient of South American origin.

Búsqueda de nuevos autoantígenos en el síndrome de Sjögren / The search for new autoantigens in Sjögren’s syndrome

Objetivo: Determinar la existencia de nuevos autoantígenos en el síndrome de Sjögren (SS) así como estudiar la prevalencia de éstos en pacientes y población sana. Material y métodos: Se procedió a realizar un muestreo con el suero de una enferma afectada de SS mediante la utilización de una genoteca de cerebro humano (técnica SEREX). Se determinó que este suero expresaba autoantígenos ya conocidos y proteínas no descritas previamente, y también se confirmó la presencia de una proteína desconocida hasta ahora. De entre ellas, se seleccionó a esta última (hIscA) y a la proteína Tau (hallada en el muestreo) para ser transformadas en sendos plásmidos de expresión para conseguir su síntesis recombinante. Resultados: Mediante técnica de inmunotransferencia se testó la existencia de anticuerpos anti-Tau y anti-hIscA en 19 pacientes y 20 sujetos sanos. No se encontró diferencia estadísticamente significativa entre pacientes y controles en la expresión de anticuerpos anti-Tau y se halló que los pacientes expresaban, de forma significativa, valores inferiores de anticuerpos anti-hIscA. Conclusión: Se ha identificado a las proteínas Tau y hIscA como nuevos autoantígenos en el SS. Se ha hallado que los pacientes con SS expresan valores inferiores de anticuerpos anti-hIscA en comparación con controles y, aunque no se ha encontrado ninguna diferencia entre sanos y enfermos en relación con la presencia de anticuerpos anti-Tau, ésta es la primera vez en que anticuerpos contra esta proteína se han detectado en el SS(AU)

Objective: To identify new autoantigens related to Sjögren’s syndrome and to determine their prevalence in patients and healthy individuals. Material and methods: Serological sampling was performed in a patient with Sjögren’s syndrome through the use of a human brain expression genotec (SEREX technique) to determine expression of known autoantigens and previously undescribed proteins. The presence of a previously unknown protein was found. Several proteins were obtained and two were selected to be studied (a human protein called Tau and an unknown protein described by our group and named hlscA). Both Tau and hIscA cDNA were transformed into an expression plasmid to obtain their recombinant proteins. Results: Using a Western-blot technique we investigated the presence of anti-Tau and anti-hlscA autoantibodies in the sera of 19 patients with Sjögren’s syndrome and in the sera of 20 controls. No statistically significant differences were found in the expression of anti-Tau antibodies between patients with Sjögren’s syndrome and controls but values of anti-hlscA autoantibodies were significantly lower in patients with Sjögren’s syndrome. Conclusion: We identified Tau and hIscA proteins as new autoantigens in Sjögren’s syndrome. Anti-hlscA antibody values were significantly lower in patients with Sjögren’s syndrome than in healthy controls. Although no statistically significant differences in values of anti-Tau antibodies were found between Sjögren’s syndrome patients and controls, this is the first time antibodies against this protein have been detected in Sjögren’s síndrome(AU)

[The search for new autoantigens in Sjögren's syndrome]. / Búsqueda de nuevos autoantígenos en el síndrome de Sjögren.

OBJECTIVE: To identify new autoantigens related to Sjögren's syndrome and to determine their prevalence in patients and healthy individuals. MATERIAL AND METHODS: Serological sampling was performed in a patient with Sjögren's syndrome through the use of a human brain expression genotec (SEREX technique) to determine expression of known autoantigens and previously undescribed proteins. The presence of a previously unknown protein was found. Several proteins were obtained and two were selected to be studied (a human protein called Tau and an unknown protein described by our group and named hlscA). Both Tau and hIscA cDNA were transformed into an expression plasmid to obtain their recombinant proteins. RESULTS: Using a Western-blot technique we investigated the presence of anti-Tau and anti-hlscA autoantibodies in the sera of 19 patients with Sjögren's syndrome and in the sera of 20 controls. No statistically significant differences were found in the expression of anti-Tau antibodies between patients with Sjögren's syndrome and controls but values of anti-hlscA autoantibodies were significantly lower in patients with Sjögren's syndrome. CONCLUSION: We identified Tau and hIscA proteins as new autoantigens in Sjögren's syndrome. Anti-hlscA antibody values were significantly lower in patients with Sjögren's syndrome than in healthy controls. Although no statistically significant differences in values of anti-Tau antibodies were found between Sjögren's syndrome patients and controls, this is the first time antibodies against this protein have been detected in Sjögren's syndrome.

Human articular chondrocytes, synoviocytes and synovial microvessels express aquaporin water channels; upregulation of AQP1 in rheumatoid arthritis.

Recent studies have shown that aquaporin water channels are expressed in human Meckel's cartilage. The aim of the present investigation was to determine if human articular chondrocytes and synoviocytes express aquaporin 1 (AQP1) water channels and to establish if there are any alterations in AQP1 expression in osteoarticular disorders such as osteoarthritis (OA) and rheumatoid arthritis (RA). Immunohistochemistry was employed semi-quantitatively to compare the expression of AQP1 in human chondrocytes derived from normal, OA and RA joints. PCR, cloning and sequencing confirmed the presence of AQP1 transcripts in chondrocytes. Normal human tissue microarrays including samples of kidney, choroid plexus and pancreas were used as positive controls for AQP1 expression. In most tissues AQP1 was expressed along endothelial barriers. In the kidney AQP1 was present in the glomerular capillary endothelium, proximal tubule and descending thin limbs. AQP1 was also localized to pancreatic ducts and acini and the apical membrane domain of the choroid plexus. Immunohistochemistry showed that AQP1 is expressed in synovial micro-vessels, synoviocytes and predominantly in chondrocytes located in the deep zone of articular cartilage. Image analysis of normal, OA and RA cartilage suggested that AQP1 may be upregulated in RA. This is the first report of AQP1 mRNA and protein expression in articular chondrocytes and synoviocytes. These findings suggest a potential role for AQP1 and possibly other members of the AQP gene family in the movement of extracellular matrix and metabolic water across the membranes of chondrocytes and synoviocytes for the purposes of chondrocyte volume regulation and synovial homeostasis.

Neumonía por Burkholderiacepacia en un paciente coninmunodeficiencia variable común / Burkholderia cepacia pneumonia in a patient with common variable immunodeficiency

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El reumatólogo consultor: enlace entre la medicina primaria y la hospitalaria. Organización de la Unidad Consultora de Reumatología-Atención Primaria (UCRAP). Experiencia del primer año de funcionamiento / The rheumatology consultant: a link between hospital and primary care. Organization of a rheumatology unit in primary care. First year experience

Fundamento: Comunicamos la creación de una unidad consultora de reumatología para atención primaria y analizamos la experiencia del primer año de funcionamiento, así como la valoración que de ella hacen los médicos de atención primaria y los pacientes atendidos. Material y método: Hemos registrado los datos de cada paciente y la actividad generada a través de una hoja de registro. La valoración por médicos y pacientes se ha realizado mediante cuestionarios diseñados para tal fin. Resultados: Se ha atendido a 17.602 consultas ordinarias y 45 consultas urgentes. La demanda ha sido creciente. Se han recibido 532 llamadas telefónicas y 36 correos electrónicos. Se han realizado 269 artrocentesis y 1.993 infiltraciones. El 3,2 por ciento de los pacientes se remitió al servicio hospitalario de reumatología. La artrosis, los reumatismos de partes blandas y las raquialgias encabezan los diagnósticos más frecuentes. Se han diagnosticado 52 nuevos casos de enfermedad inflamatoria. Todos los aspectos de la actividad del reumatólogo consultor fueron evaluados muy positivamente por los médicos de asistencia primaria. La evaluación de los pacientes es también muy satisfactoria. Discusión: La atención combinada en el hospital y en la asistencia primaria por el mismo especialista supone una posibilidad óptima de acercar a la atención primaria una especialidad hasta ahora exclusivamente hospitalaria. La experiencia es considerada muy positiva por reumatólogos, médicos de atención primaria y pacientes. (AU)

Glucose transport and metabolism in chondrocytes: a key to understanding chondrogenesis, skeletal development and cartilage degradation in osteoarthritis.

Despite the recognition that degenerative cartilage disorders like osteoarthritis (OA) and osteochondritis dissecans (OCD) may have nutritional abnormalities at the root of their pathogenesis, balanced dietary supplementation programs have played a secondary role in their management. This review emphasizes the importance and role of nutritional factors such as glucose and glucose-derived sugars (i.e. glucosamine sulfate and vitamin C) in the development, maintenance, repair, and remodeling of cartilage. Chondrocytes, the cells of cartilage, consume glucose as a primary substrate for ATP production in glycolysis and utilize glucosamine sulfate and other sulfated sugars as structural components for extracellular matrix synthesis and are dependent on hexose uptake and delivery to metabolic and biosynthetic pools. Data from several laboratories suggests that chondrocytes express multiple isoforms of the GLUT/SLC2A family of glucose/polyol transporters. These facilitative glucose transporter proteins are expressed in a tissue and cell-specific manner, exhibit distinct kinetic properties, and are developmentally regulated. They may also be regulated by endocrine factors like insulin and insulin-like growth factor I (IGF-I) and cytokines such as interleukin 1 beta (IL-1 beta) and tumour necrosis factor alpha (TNF-alpha). Recent studies suggest that degeneration of cartilage may be triggered by metabolic disorders of glucose balance and that OA occurs coincident with metabolic disease, endocrine dysfunction and diabetes mellitus. Based on these metabolic, endocrine and developmental considerations we present a novel hypothesis regarding the role of glucose transport and metabolism in cartilage physiology and pathophysiology and speculate that supplementation with sugar-derived vitamins and nutraceuticals may benefit patients with degenerative joint disorders.

New perfluorocarbon system for multilayer growth of anchorage-dependent mammalian cells.

A novel tissue culture system has been developed that supports the multilayer growth of Hep G2 cells. The system consists of growing cells on collagen-coated perfluorocarbon substrata in the wells of a multi-well plate designed so that, even at very high densities, the oxygen in the cultures is replenished as rapidly as it is consumed. Hep G2 cells, which are typically contact inhibited, grow to form more than 10 layers of cells that continue to secrete albumin. Both multilayer growth and high rates of albumin depend on using a very enriched nutrient medium, compared to media usually used for monolayer culture of Hep G2 cells. The role played by increased oxygenation, enriched media, and the unique properties of the perfluorocarbon substrata for the 3-D growth of anchorage-dependent cells is discussed.