Alzheimer's disease pathogenetic progression is associated with changes in regulated retained introns and editing of circular RNAs.

Introduction: The molecular changes leading to Alzheimer's disease (AD) progression are poorly understood. A decisive factor in the disease occurs when neurofibrillary tangles (NFT) composed of microtubule associated protein tau (MAPT) form in the entorhinal cortex and then spread throughout the brain. Methods: We therefore determined mRNA and circular RNA changes during AD progression, comparing Braak NFT stages I-VI. Total RNA was isolated from human brain (entorhinal and frontotemporal cortex). Poly(A)+ RNA was subjected to Nanopore sequencing, and total RNA was analyzed by standard Illumina sequencing. Circular RNAs were sequenced from RNase R treated and rRNA depleted total RNA. The sequences were analyzed using different bioinformatic tools, and expression constructs for circRNAs were analyzed in transfection experiments. Results: We detected 11,873 circRNAs of which 276 correlated with Braak NFT stages. Adenosine to inosine RNA editing increased about threefold in circRNAs during AD progression. Importantly, this correlation cannot be detected with mRNAs. CircMAN2A1 expression correlated with AD progression and transfection experiments indicated that RNA editing promoted its translation using start codons out of frame with linear mRNAs, which generates novel proteins. Discussion: Thus, we identified novel regulated retained introns that correlate with NFT Braak stages and provide evidence for a role of translated circRNAs in AD development.

RNA editing of microtubule-associated protein tau circular RNAs promotes their translation and tau tangle formation.

Aggregation of the microtubule-associated protein tau characterizes tauopathies, including Alzheimer's disease and frontotemporal lobar degeneration (FTLD-Tau). Gene expression regulation of tau is complex and incompletely understood. Here we report that the human tau gene (MAPT) generates two circular RNAs (circRNAs) through backsplicing of exon 12 to either exon 7 (12→7 circRNA) or exon 10 (12→10 circRNA). Both circRNAs lack stop codons. The 12→7 circRNA contains one start codon and is translated in a rolling circle, generating a protein consisting of multimers of the microtubule-binding repeats R1-R4. For the 12→10 circRNA, a start codon can be introduced by two FTLD-Tau mutations, generating a protein consisting of multimers of the microtubule-binding repeats R2-R4, suggesting that mutations causing FTLD may act in part through tau circRNAs. Adenosine to inosine RNA editing dramatically increases translation of circRNAs and, in the 12→10 circRNA, RNA editing generates a translational start codon by changing AUA to AUI. Circular tau proteins self-aggregate and promote aggregation of linear tau proteins. Our data indicate that adenosine to inosine RNA editing initiates translation of human circular tau RNAs, which may contribute to tauopathies.

Narrativa de enfermería: visión y patrones de conocimiento en la experiencia de cuidado de una persona con colostomía. Reporte de caso / A Nursing Narrative: Vision and Patterns of Knowledge in the Care Experience of a Patient with Colostomy. A case report

RESUMEN La narrativa de las situaciones de enfermería resalta las vivencias y significados de la persona objeto de cuidado con un proceso de enfermedad y da cuenta de la relación de cuidado enfermero-paciente como aspecto clave para la recuperación de la salud física, mental y espiritual, teniendo como base el proceso de atención de enfermería. Se presenta la situación de enfermería de una persona mayor de 74 años de edad, posquirúrgica de laparotomía exploratoria más resección de masa en colon sigmoide, que derivó en una colostomía. Se resaltan situaciones relacionadas con la ansiedad y preocupación de parte de una de sus hijas por el estado de salud de su madre. Con base en la narrativa se analizaron los patrones de conocimiento personal, empírico, ético y estético, la visión del mundo de enfermería integrativa-interactiva, así como la aplicación de la teoría de rango medio de las transiciones; los supuestos de las propiedades de la transición de Afaf Meleis.

ABSTRACT The narrative of nursing situations highlights the experiences and meanings of the person object of care with a disease process, and accounts for the caring relationship between the nurse and the patient in need of nursing care as a key aspect for the recovery of physical, mental, and spiritual health, based on the nursing care process. The nursing situation of a 74-year-old woman after a laparotomy surgery plus resection of a mass in the sigmoid colon, that led to a colostomy, is presented. Situations related to anxiety and concern of one of her daughters about the state of health of her mother are highlighted. Based on the narrative, we analyzed the fundamental patterns of personal, empirical, ethical, and aesthetic knowledge; and also the Interactive-Integrative Nursing Worldview, as well as the application of Afaf Meleis' Transitions mid-range Theory and its assumptions of the transition properties.

La dieta libre de gluten, ¿se diferencia de la alimentación general?: Estudio comparativo entre niños celíacos y no celíacos / Does the Gluten Free Diet differ from the general diet?: Comparative study between celiac and non-celiac children

Introducción: la enfermedad celíaca (EC) es una patología multisistémica, precipitada por la ingesta de gluten que requiere de la eliminación de por vida de los alimentos que lo contienen con el fin de mejorar la sintomatología. Sin embargo, esta supresión alimentaria podría alejar a quienes la padecen de los requerimientos nutricionales recomendados. El objetivo del presente estudio fue conocer la ingesta promedio de macronutrientes en los/as niños/as celíacos/as con dieta libre de gluten (DLG) y compararla con la alimentación de niños/as no celíacos/as. Materiales y método: el estudio se llevó a cabo en población celíaca y no celíaca (grupo control) de 6 a 11 años de ambos géneros. En ella se realizó la evaluación del consumo alimentario a través de dos recordatorios de 24 hs. Se utilizó como análisis estadístico la prueba Bayesiana de Estimación de una Diferencia de Medias - Método Exacto. Resultados: se estudiaron 40 celíacos y 40 no celíacos. No se observaron diferencias significativas en el nivel socioeconómico, ni en el estado nutricional. Se observó que la mayoría de los celíacos sobrepasaron las recomendaciones de hidratos de carbono y proteínas, al igual que el grupo control. Conclusión: la DLG realizada por los niños de 6 a 11 años presenta un mayor y excesivo consumo de hidratos de carbono y grasas en comparación con las IDR.

Introduction: Celiac Disease (CD) is a multisystem pathology, caused by gluten intake, and requires the elimination of gluten food for life to improve symptoms. However, this dietary suppression could keep celiac away from the recommended nutritional requirements. The objective of the present study was to know the average intake of macronutrients in celiac children with a gluten-free diet (DLG) and compare it with the diet of non-celiac children. Materials and Methods: the study was carried out in celiac and non- celiac population (control group) of 6 to 11 years old, of both genders. In it, the evaluation of food consumption was made through two 24-hour reminders. The Bayesian test of Estimation of Difference of Means - Exact Method was used as statistical analysis. Results: 40 celiac and 40 non-celiac were studied. There were no significant differences in socioeconomic status or nutritional status. It was observed that the majority of celiacs exceeded carbohydrate and protein recommendations, as did the control group. Conclusion: the GFD performed by celiac children aged 6 to 11 years old presents a grater and excessive consumption of carbohydrates and fats compared to RDI.

[Risk factors for uncontrolled asthma in adults]. / Factores de riesgo para mal control de asma en adultos.

BACKGROUND: Many studies in children had identified risk factors associated with partly or uncontrolled asthma. In adults, factors related to asthma control were not well defined. OBJECTIVE: To find the factors related to partly or uncontrolled asthma in adults. METHODS: Asthmatic adults who had severity at least in the mild persistent level, were recruited. The asthma control levels were classified as controlled, partly controlled and uncontrolled according to the Global Initiative for Asthma guideline. Risk factors were compared between the patients with controlled and partly controlled/ uncontrolled asthma groups. RESULTS: Two hundred (75.5 % females) were included. The mean age was 38.4 ± 11.93 years old. There were 100 patients (50 %) in the controlled and 100 patients (50 %) in partly controlled and uncontrolled asthma group. For asthma severity, 35 patients (88.2 %) were in mild persistent, 14 patients (10 %) in moderate persistent and 97 patients (1.8 %) in severe persistent groups. The absence of stress yielded an OR = 0.41 (95 % CI = 0.23-0.75), p = 0.03. While active smoking, OR = 4.23 (95 % CI = 1.35-13.2), p = 0.007. Patients who have no contact with stuffed animals or rugs have OR = 0.4 (IC 95 % = 0.2-0.79). It was important the result of the patients that if they correctly use their inhalers OR = 0.36 (IC 95 % = 0.13-0.97), p = 0.031. CONCLUSIONS: Current and active smoking and atopic dermatitis are risk factors. As a protective factor to the normal levels of eosinophils in blood, correct use of inhalers, FEV1 > 80 %, the absence of stress and the absence of contact with carpets and stuffed animals.

Antecedentes: Estudios en niños han identificado factores asociados con la falta de control del asma. En adultos no están bien definidos. Objetivo: Identificar los factores relacionados con la falta de control del asma en adultos. Métodos: Se incluyeron adultos con asma clasificados como controlados, parcialmente controlados y no controlados según los criterios de la Global Initiative for Asthma. Resultados: Se incluyeron 200 pacientes (75.5 % mujeres), edad promedio de 38.4 ± 11.93 años. Cien pacientes con asma controlada y 100 con asma no controlada y parcialmente controlada; 35 (88.2 %) con persistencia leve, 14 (10 %) con persistencia moderada y 97 (1.8 %) con persistencia grave; en estrés se encontró RM = 0.41 (IC 95 % = 0.23-0.75), p = 0.03; en tabaquismo actual y activo, RM = 4.23 (IC 95 % = 1.35-13.2), p = 0.007; y en uso correcto de inhaladores, RM = 0.36 (IC 95 % = 0.13-0.97), p = 0.031. Los pacientes no tuvieron contacto con peluches ni alfombras. Conclusiones: Se observó asociación con tabaquismo actual activo y dermatitis atópica. Como factores de protección se identificó niveles normales de eosinófilos en sangre, uso correcto de inhaladores, VEF1 > 80 %, ausencia de estrés y de contacto con alfombras y peluches.

Tricobezoar, causa de masa abdominal palpable / Trichobezoar, cause of palpable abdominal mass

El bezoar es una formación en el tracto digestivo, producida por la ingesta de materiales no digeribles que dependiendo de su composición se clasifican en tricobezoar, fitobezoar, lactobezoar y farmacobezoar. Sus manifestaciones pueden ser variadas, desde la sensación de masa sin otra sintomatología hasta la obstrucción intestinal y sus complicaciones. El manejo dependerá del tipo de bezoar y la condición clínica del paciente. A continuación se presenta el caso de una niña de 7 años que consulta por palparse una masa abdominal, sin acompañarse de ninguna otra sintomatología. Se trató de un tricobezoar, que recibió manejo expectante inicial con bebida carbonatada (Coca Cola®), logrando con ello reducción del tamaño de la masa, y finalmente extracción quirúrgica, debido a su gran tamaño

The bezoar is a formation inside the digestive tract, result from ingestion of indigestible materials that are classified depending on their composition trichobezoar, phytobezoar, lactobezoar and pharmacobezoar. Its manifestations would be diverse, from the sensation of mass without any other symptoms to bowel obstruction with related complications. The treatment depends on the type of bezoar and the patient's clinical condition. A clinical case of a 7 year-old girl who palpated an abdominal mass without any symptom is presented. The cause was a trichobezoar, which received initial expectant management with carbonated beverage (Coca Cola®), having as a result size reduction of the mass and eventually surgical removal, due to its large size.

[DRESS syndrome or reaction to drugs with eosinophilia and systemic symptoms associated to anti-tuberculosis drugs]. / Síndrome DRESS o reacción a fármacos con eosinofilia y síntomas sistémicos asociada con el consumo de fármacos antituberculosos.

Tuberculosis has increased all over the world. This paper reports the case of a male patient with tuberculous meningitis, spinal tuberculosis (Pott's disease) and severe adverse reactions to antituberculosis drugs. He had skin rash, hepatitis, eosinophilia and fever; all these signs make the diagnosis of DRESS syndrome. This syndrome is caused by a severe hypersensitivity reaction to different drugs. It is usually caused by anticonvulsants, sulfonamides and some antiviral drugs, among other drugs. Anti-tuberculosis drugs can also cause this potentially fatal syndrome. The importance of surveillance for early detection and treatment of adverse drug reactions is emphasized.

La tuberculosis se ha incrementado en todo el mundo. Comunicamos el caso de un paciente con meningoencefalitis tuberculosa y tuberculosis de hueso (mal de Pott), que sufrió una reacción adversa grave a los fármacos antituberculosos. Inició con farmacodermia, hepatitis, leucocitosis, eosinofilia y fiebre, que constituyen el síndrome DRESS. Este síndrome es una reacción grave de hipersensibilidad a diferentes fármacos. Suele ser producido por anticonvulsivos, sulfonamidas y algunos fármacos antivirales, entre otros. Los fármacos antituberculosos también pueden producir este síndrome potencialmente fatal. Se destaca la importancia de la farmacovigilancia para su detección y tratamiento tempranos.

Perfil de parásitos y comensales entéricos de comunidades del cantón de Barva, Heredia, Costa Rica / Profile diners enteric parasites and communities in the canton of Barva, Heredia, Costa Rica

Se analizó la frecuencia de los protozoarios y helmintos observados en las muestras fecales de los pacientes que consultaron el laboratorio del Área de Salud de Barva, Coopesiba R.L., durante enero a noviembre del 2004. La presencia de organismos parásitos y comensales fue evidenciada en las muestras procedentes de todas las comunidades, mostrando una prevalencia global del 41.2 por ciento. Las comunidades de San Roque y Barva Distrito Central fueron las que presentaron, en los análisis efectuados, las prevalencias más alta, 45,4 por ciento, y más baja, 35,0 por ciento, respectivamente. Los organismos más frecuentes fueron Blastocystis hominis, con una prevalencia global del 27,4 por ciento, Endolimaz nana, 16,5 por ciento, y Entamoeba coli, 7,4 por ciento. Los únicos helmintos observados fueron Trichuris trichiura, 0,03 por ciento, e Hymenolepis nana, 0,1 por ciento. La distribución de los parásitos en las localidades del Cantón de Barva no fue homogénea. Los resultados mostraron prevalencias de organismos relativamente bajas pero sugieren la ocurrencia de condiciones permisivas para la transmisión de enteropatógenos que hacen su diseminación por fecalismo, lo cual conlleva la necesidad de insistir en medidas preventivas.

The frequency of protozoa and helminths observed in the fecal samples of the patients who consulted in the laboratory of the Barva Health Area (also known as Coopesiba, R.L.), during the months of January to November of 2004 was analyzed. The presence of parasitic as well as commensal organisms was evidenced in the samples coming from all the differentcommunities, showing a global prevalence of 41.2%. Thecommunities of San Roque as well as the Central District of Barva were the ones which showed, in the analysescarried out, the highest (45.4%) and the lowest (35.0%) prevalences, respectively. The most frequent organisms were Blastocystis hominis with a global prevalence of 27.4%, Endolimax nana (16.5%) and Entamoeba coli (7.4%). The only helminthic organisms observed wereTrichuris trichiura (0.03%) and Hymenolepis nana (0.1%). The parasite distribution in the communities of Barvawas not homogeneous. The results showed relatively low prevalences of the organisms but suggest the existenceof permissive conditions for transmission of enteric pathogens disseminated via the fecal route all of which emphasizes the need to stress preventive measures.