Description of Two Families with New Mutations in Familial Cerebral Cavernous Malformations Genes.

Cerebral cavernous malformations (CCMs) are dilated aberrant leaky capillaries located in the Central Nervous System. Familial CCM is an autosomal dominant inherited disorder related to mutations in KRIT1, Malcavernin or PDCD10. We show two unrelated families presenting familial CCM due to two new mutations in KRIT1 and PDCD10, producing truncated proteins. Clinical phenotype was highly variable among patients from asymptomatic individuals to diplopia, seizures or severe intracranial hemorrhage. PDCD10 patients usually show a more aggressive course and they frequently showed multiple meningiomas. This work provides evidence for the pathogenicity of two new mutations in CCM genes and supports previous findings regarding familial CCM and multiple meningiomas.

Progression of carotid near-occlusion to complete occlusion: related factors and clinical implications.

BACKGROUND: The clinical consequences and factors related to the progression from a carotid near-occlusion (CNO) to a complete occlusion are not well established. Our aim is to describe the rate, predictive factors and clinical implications of the progression to complete carotid occlusion (PCCO) in a population of patients with symptomatic CNO. METHODS: We conducted a multicenter, nationwide, prospective study from January 2010 to May 2016. Patients with angiography-confirmed CNO were included. We collected information on demographic data, clinical manifestations, radiological and hemodynamic findings, and treatment modalities. A 24 month carotid-imaging follow-up of the CNO was performed. RESULTS: 141 patients were included in the study, and carotid-imaging follow-up was performed in 122 patients. PCCO occurred in 40 patients (32.8%), and was more frequent in medically-treated patients (34 out of 61; 55.7%) compared with patients treated with revascularization (6 out of 61; 9.8%) (p<0.001). 7 of the 40 patients with PCCO (17.5%) suffered ipsilateral symptoms. Factors independently related with PCCO in the multivariate analysis were: age ≥75 years (OR 2.93, 95% CI 1.05 to 8.13), revascularization (OR 0.07, 95% CI 0.02 to 0.20), and collateral circulation through the ipsilateral ophthalmic artery (OR 3.25, 95% CI 1.01 to 10.48). CONCLUSIONS: PCCO occurred within 24 months in more than half of the patients under medical treatment. Most episodes of PCCO were not associated with ipsilateral symptoms. Revascularization reduces the risk of PCCO.

COL4A1 Mutation as a Cause of Familial Recurrent Intracerebral Hemorrhage.

The COL4A1 mutation is a very rare monogenic cause of small vessel disease related to recurrent intracerebral hemorrhage. We report a family in which the index case presented with two intracerebral hemorrhages in the basal ganglia with severe periventricular leukoaraiosis and a cataract and vascular tortuosity in the ophthalmological study. His twin brother also had severe leukoaraiosis and multiple subcortical microhemorrhages as well as a congenital cataract and vascular tortuosity in the retina. The older sister had a porencephalic cyst and involvement of the periventricular white matter and intracerebral hemorrhage. In single-gene testing, all three were found to have the same COL4A1 mutation. Intracerebral subcortical hemorrhages or microhemorrhages and severe subcortical leukoaraiosis in familial cases may be related to COL4 mutations.

El cuidado espiritual un camino para trascender en la razón de ser de la Enfermería / Spiritual care a way to transcend the reason of being of Nursing

Resumen

¿Cómo se relaciona la espiritualidad con el arte del cuidado?

La espiritualidad acompaña al hombre desde sus orígenes, al igual que el cuidado se reconoce como una dimensión humana; en la contemporaneidad, se explica dentro del paradigma de la Nueva Era como respuesta a las concepciones tradicionales. Se relaciona con la comunicación enfermera-persona durante el proceso de cuidado que, en esencia, se trata de recuperar el sentido de la vida-muerte, la conciencia de sí y su trascendencia.

La espiritualidad se fundamenta en procesos de vida, posee orientaciones y significados diferentes; así es como el cuidado espiritual se convierte en un proceso dinámico continuo de interacción, del estar ahí con la persona, de ayudarle en su necesidad de trascender y de vivir acorde con sus creencias y significados.

El profesional de enfermería, al apropiarse de estos conceptos y ponerlos en práctica desarrolla su propia espiritualidad, promueve en las personas preguntarse por el sentido de su existencia, elaborar proyectos de vida y comprender su historia de vida; dichas acciones, favorecen que el profesional de enfermería se identifique consigo mismo y con el otro en el momento de brindar cuidado, y convierte el acto del cuidado en una experiencia trascendente, donde convergen el crecimiento personal y profesional.

Abstract

How is spirituality related to the art of care?

Spirituality accompanies man from his origins just as care is recognized as a human dimension; in contemporaneity, it is explained within the paradigm of the New Age as a response to traditional conceptions. It is related to the nurse-person communication during the care process, which in essence, is about recovering the meaning of life-death, self-awareness and its transcendence. Spirituality is based on life processes, and it has different orientations and meanings; that is how, spiritual care becomes a continuous dynamic process of interaction, of being there with the person, of helping him in his need to transcend and live according to his beliefs and meanings.

The nursing professional, by appropriating these concepts and putting them into practice, develops his own spirituality; promotes in people, the question of the meaning of their existence, develop life projects and understand their life history; these actions favor that the nursing professional identifies himself with himself and with the other at the time of providing care, and turns the act of care into a transcendent experience, where personal and professional growth converge.

Initial experience using the 3MAX cerebral reperfusion catheter in the endovascular treatment of acute ischemic stroke of distal arteries.

INTRODUCTION: The advancement of technology has allowed the development of new catheters that may provide safe intracranial navigation. OBJECTIVE: To report our first experience with the direct aspiration first pass technique in small arteries as the primary method for recanalization with the Penumbra 3MAX cerebral reperfusion catheter. METHODS: A retrospective case series analysis study of patients with acute ischemic stroke endovascularly treated with the direct aspiration technique using the 3MAX reperfusion catheter in our hospital in the past year. RESULTS: We treated six patients in our hospital for acute ischemic stroke using the 3MAX aspiration catheter as first choice. The patients had a median National Institutes of Health Strokes Scale (NIHSS) score of 12 (range 10-17) at admission, with occlusions of an M2 segment of a middle cerebral artery (MCA) treated through an anterior communicating artery, pericallosal artery, P2 artery, and M2-MCA and M3-MCA arteries. Recanalization (TICI 2b-3) was achieved in all cases and no complications occurred. It was not necessary to combine treatment with a stent retriever in any of the patients. All the patients showed early neurological improvement. The median NIHSS score at discharge was 1 (0-3) and 5/6 (83%) patients had a modified Rankin Scale score 0-2 at discharge. CONCLUSIONS: Our initial experience suggests that treatment of distal cerebrovascular occlusions with the 3MAX catheter is feasible. We achieved complete recanalization in all cases without unexpected complications while obtaining good clinical results. However, larger studies are necessary to establish its benefits and its safety.

Epigenetic Changes in the Methylation Patterns of KCNQ1 and WT1 after a Weight Loss Intervention Program in Obese Stroke Patients.

Ischemic stroke patients often show high concentrations of circulating inflammatory markers that are associated with increased risk of recurrence. Epigenetic mechanisms could be involved in obesity, inflammation and stroke. The objective of this research was to investigate, in obese patients suffering a previous stroke, the effects of a nutritional program on anthropometric and biochemical variables, and on the methylation patterns of two stroke-related genes (KCNQ1: potassium channel, voltage gated KQT-like subfamily Q, member 1; and WT1: Wilms tumor 1). Twenty-two ischemic stroke patients were compared with a control group composed of eighteen obese subjects with similar age and body mass index ranges. Both groups followed a 20-week nutritional program based on an energy-restricted balanced diet with high adherence to the Mediterranean dietary pattern. The intervention significantly improved anthropometric and metabolic variables, such as the Homeostatic Model Assessment of Insulin Resistance (HOMA-IR) and C-reactive protein concentration, in ischemic stroke patients, and was accompanied by changes in the methylation patterns of both stroke-related genes, which correlated with anthropometric and biochemical variables.

Obesity and ischemic stroke modulate the methylation levels of KCNQ1 in white blood cells.

Obesity and stroke are multifactorial diseases in which genetic, epigenetic and lifestyle factors are involved. The research aims were, first, the description of genes with differential epigenetic regulation obtained by an 'omics' approach in patients with ischemic stroke and, second, to determine the importance of some regions of these selected genes in biological processes depending on the body mass index. A case-control study using two populations was designed. The first population consisted of 24 volunteers according to stroke/non-stroke and normal weight/obesity conditions. The second population included 60 stroke patients and 55 controls classified by adiposity. DNA from the first population was analyzed with a methylation microarray, showing 80 cytosine-guanine dinucleotides (CpG) sites differentially methylated in stroke and 96 CpGs in obesity, whereas 59 CpGs showed interaction. After validating these data by MassArray Epityper, the promoter region of peptidase M20 domain containing 1 (PM20D1) gene was significantly hypermethylated in stroke patients. One CpG site at Caldesmon 1 (CALD1) gene showed an interaction between stroke and obesity. Two CpGs located in the genes Wilms' tumor 1 (WT1) and potassium voltage-gated channel, KQT-like subfamily, member 1 (KCNQ1) were significantly hypermethylated in obese patients. In the second population, KCNQ1 was also hypermethylated in the obese subjects. Two CpGs of this gene were subsequently validated by methylation-sensitive high-resolution melting. Moreover, KCNQ1 methylation levels were associated with plasma KCNQ1 protein concentrations. In conclusion, obesity induced changes in the KCNQ1 methylation pattern which were also dependent on stroke. Furthermore, the epigenetic marks differentially methylated in the stroke patients were dependent on the previous obese state. These DNA methylation patterns could be used as future potential stroke biomarkers.

Epidemiología del estridor en la población pediátrica del Hospital Universitario Clínica San Rafael atendida por servicio otorrinolaringología entre los años 2011 a 2014 / Epidemiology of stridor in the pediatric population of the San Rafael Hospital in Bogota during the years 2011-2014

Fue describir las características demográficas de pacientes cuyo síntoma principal fue estridor y que se presentaron en nuestro servicio en un período de 3 años entre enero de 2011 y 2014, valorando variables como sexo, edad, comorbilidades, hallazgos endoscópicos y causa congénita o adquirida para caracterizar estos pacientes y protocolizar su manejo. Se identificaron 34 casos de pacientes que ingresaron por estridor, entre edades de 1 mes y 4 años (media 8 meses). El 55% de los pacientes fueron hombres y el 45% mujeres. La comorbilidad más frecuente fue infección respiratoria inferior en el 52%. A la endoscopia lo más frecuente fue estenosis subglótica, el 100% adquirida; la patología congénita más frecuente fue laringomalacia. El 8% de los pacientes no presentó anormalidades endoscópicas relacionado con menor tiempo de evolución del estridor, es decir, se deben llevar a endoscopia pacientes con estridor persistente. Resultados correlacionados con literatura actual...

To describe the demographic characteristics of patients with stridor like main symptom who was submitted to our service over a period of three years between January 2011 and 2014. Design: Descriptive study. Methods: Variables such as sex, age, comorbidities, endoscopic fi ndings and congenital or acquired etiology, were evaluated to characterize these patients and protocolize their treatment. Results: 34 cases of patients were identifi ed and admitted for stridor, between a age range of 1 month to 4 years (median 8 months). 55% of the patients were male and 45% female. The most frequent comorbidity was the lower respiratory infection in 52%. At endoscopy the most frequent fi nding was subglottic stenosis, acquired in 100%; the most frequent congenital pathology was laryngomalacia. 8% of patients presented no endoscopic abnormalities associated with shorter evolution of stridor. Conclusion: We must take endoscopy patients with persistent stridor, the results relate to that reported in current literature...

Stroke prevalence among the Spanish elderly: an analysis based on screening surveys.

BACKGROUND: This study sought to describe stroke prevalence in Spanish elderly populations and compare it against that of other European countries. METHODS: We identified screening surveys--both published and unpublished--in Spanish populations, which fulfilled specific quality requirements and targeted prevalence of stroke in populations aged 70 years and over. Surveys covering seven geographically different populations with prevalence years in the period 1991-2002 were selected, and the respective authors were then asked to provide descriptions of the methodology and raw age-specific data by completing a questionnaire. In addition, five reported screening surveys in European populations furnished useful data for comparison purposes. Prevalence data were combined, using direct adjustment and logistic regression. RESULTS: The overall study population, resident in central and north-eastern Spain, totalled 10,647 persons and yielded 715 cases. Age-adjusted prevalences, using the European standard population, were 7.3% for men, 5.6% for women, and 6.4% for both sexes. Prevalence was significantly lower in women, OR 0.79 95% CI 0.68-0.93, increased with age, particularly among women, and displayed a threefold spatial variation with statistically significant differences. Prevalences were highest, 8.7%, in suburban, and lowest, 3.8%, in rural populations. Compared to pooled Spanish populations, statistically significant differences were seen in eight Italian populations, OR 1.39 95% CI (1.18-1.64), and in Kungsholmen, Sweden, OR 0.40 95% CI (0.27-0.58). CONCLUSION: Prevalence in central and north-eastern Spain is higher in males and in suburban areas, and displays a threefold geographic variation, with women constituting the majority of elderly stroke sufferers. Compared to reported European data, stroke prevalence in Spain can be said to be medium and presents similar age- and sex-specific traits.

Correlacion entre pulsioximetria y saturacion arterial de oxigeno en pacientes en cuidado intensivo / Correlation between pulse oximetry and arterial oxigen saturation in patients in ICU

Objetivo: en pacientes de la unidad de cuidado intensivo es muy importante la cuantificación de saturación periférica de 02 (Sp02) y la saturación arterial de 02 (Sa02); y la correlación de estos registros puede evitar el uso innecesario de estudios y facilitar la toma rápida de decisiones a través de una oximetría. Antecedentes: establecer la concordancia existente entre la saturación periférica de 02 medida por pulsioxímetría y la saturación arterial de 02 determinada por gasimetría arterial. Material y métodos: se tomaron muestras de gases arteriales y simultáneamente se registró el valor de pulsioxímetría. Se recolectaron 301 muestras, de 89 pacientes. Los casos estudiados correspondían a pacientes hospitalizados en la UCI médica de la Fundación Cardio-Infantil, mayores de 18 años y que tuvieran una línea arterial funcionante. La mayoría de los pacientes tenían falla respiratoria y procesos sépticos. El estudio se realizó entre noviembre de 2000 y diciembre de 2001. Las variables que se tuvieron en cuenta fueron: género, edad, raza, tensión arterial media, calidad del pulso radial, inotrópicos, estado de tabaquismo, pH, pC02, p02, saturación de 02 de la muestra arterial, valor de la pulsioxímetría, hemoglobina, pigmentos posibles en el paciente, fenómeno de Raynaud, sedación, ventilación mecánica, PEEP, fracción inspirada de oxígeno (FIO,). Resultados: hubo una excelente concordancia entre la Sp02 y Sa02. (Rho 0,785) Posteriormente se constituyeron dos grupos, el primero conformado por aquellos pacientes con una diferencia entre Sp02 y Sa02 menor o igual a 2 por ciento y el segundo con una diferencia superior a éste, encontrando diferencias estadísticamente significativas en el PEEP, la fracción inspirada de oxígeno, la presión arterial de oxígeno y la sedación. Conclusiones: la pulsioxímetría es una medida confiable y se constituye en un adecuado reemplazo en caso de querer evaluar la oxigenación.