Cutaneous involvement in an 8-year-old boy with Ras-associated autoimmune leucoproliferative disorder (RALD).

Ras-associated autoimmune leucoproliferative disorder (RALD) is a nonmalignant syndrome associated with somatic KRAS mutations. We report a patient with RALD and cutaneous lesions, the first such case reported, to our knowledge. An 8-year-old boy presented with erythematous plaques on his face and body, along with lymphadenopathies and spleen enlargement without systemic symptoms. An increased number of monocytes were found in skin biopsy, peripheral blood and bone marrow (BM). Juvenile myelomonocytic leukaemia (JMML) was suspected. Genetic study using peripheral blood showed no mutations in the KRAS, PTPN11, NRAS, CBL or BCR-ABL genes, but bone marrow analysis revealed a mutation (p-G12S/c.34 G>A) in the KRAS gene. The karyotype was normal. No KRAS mutations were found using molecular analysis of saliva. The diagnosis of RALD was proposed. The differential diagnosis between RALD and JMML is challenging because there are no established criteria to differentiate between them. The clinical course of RALD is uncertain, so long-term follow-up is recommended.

Observation of nonanoic acid and aldehydes in exhaled breath of patients with lung cancer.

Lung cancer (LC) is the leading cause of cancer death in men and the second leading cause in women worldwide. The use of low-dose computed tomography in early diagnosis was shown to reduce mortality by 20% with a median follow-up time of 6.5 years. In order to increase profitability and reduce radiation risks and costs, exhaled biomarkers could serve to help establish narrower inclusion criteria. The aim of this study was to identify new, well-founded volatile organic compounds in exhaled breath which distinguish LC patients from chronic obstructive pulmonary disease (COPD) patients and healthy subjects. There were 210 subjects enrolled and divided into three groups: control group (n = 89), COPD group (n = 40 stable COPD patients) and LC group (n = 81 with histological confirmation). Exhaled breath samples were collected using BioVOC® breath sampler devices. The analytical technique used was thermal desorption-gas chromatography-mass spectrometry. The compounds studied were hexanal, heptanal, octanal, nonanal, propanoic and nonanoic acids. Nonanoic acid showed statistically significant differences between the LC group and the other groups. It is 2.5 times and almost 9 times more likely to be found in the LC group than in the control group or COPD group, respectively. It is independent of histology but depends on tumour stage.

Design of a New Risk Score in Critical Limb Ischaemia: The ERICVA Model.

OBJECTIVES: It is difficult to establish which patients suffering from critical lower limb ischaemia will benefit from revascularization. Risk scores can provide objectivity in decision making. The aim was to design a new risk score (ERICVA) and compare its predictive power with the PREVENT III and Finnvasc scores. METHODS: An observational retrospective study of patients who underwent revascularization (open or endovascular) in Valladolid's University Hospital between 2005 and 2010 was designed. The sample was divided into two subgroups (development and validation subsamples). After univariate analysis followed by a multivariate Cox regression, a number of variables associated with death and/or major amputation were selected, creating a weighed score called ERICVA, and a simplified version of it. The area under the curve (AUC) of receiver operating characteristic (ROC) curve analysis was performed and the AUC of these two scores were additionally compared with the AUC of the PREVENT III and Finnvasc scales. RESULTS: Six hundred and seventy two cases with an average surveillance of 778 days were included in the study. Amputation free survival (AFS) was 84.8% at 30 days and 63.1% at 1 year. Variables associated with death and/or major amputation in the Cox regression were cerebrovascular disease, prior contralateral major amputation, diabetes mellitus, dialysis, chronic obstructive pulmonary disease, cancer, haematocrit less than 30%, neutrophil/lymphocyte ratio exceeding 5, absence of arterial Doppler signal at the ankle, emergency admission, and Rutherford stage 6; these variables were used for the ERICVA and simplified ERICVA score designs. Scores were applied to both subsamples; in the development sample the AUC of ERICVA and simplified ERICVA was significantly higher than the PREVENT III (p = .008 and p = .045) and Finnvasc (p < .0001 and p = .0013) scores; in the validation sample the AUC of ERICVA and simplified ERICVA were significantly higher than Finnvasc score (p = .0323 and p = .0017). CONCLUSIONS: The ERICVA model has a good predictive capacity for death and/or major amputation in the clinical setting, and is better than the PREVENT III and Finnvasc scores.

Rapamicina para el tratamiento del síndrome del nevus azul en tetina de goma / Rapamycin in the Treatment of Blue Rubber Bleb Nevus Syndrome

No disponible

Utilidad de la gammagrafía de receptores de somatostatina en la detección de recurrencias y seguimiento de paragangliomas carotídeos / Usefulness of somatostatin receptor scintigraphy in the detection of recurrences and follow-up of carotid paragangliomas

Introducción: El octreótido es un análogo sintético activo de la somatostatina que marcado con indio-111 tiene la capacidad de unirse a sus receptores, especialmente presentes en células neuroendocrinas. El objetivo es evaluar la utilidad de la gammagrafía de receptores de somatostatina (GRS) para la detección de recurrencias o restos tumorales de paragangliomas carotídeos. Material y métodos: Fueron considerados para análisis 29 casos tratados en 26 pacientes entre enero de 1996 y diciembre de 2010. Los estudios de GRS fueron comparados con angio-TC, así como los hallazgos clínicos y patológicos. Se registraron las variables demográficas, técnicas terapéuticas y los datos de seguimiento. Resultados: Mediana de edad de 68 años (r-27-82), 76,9% mujeres, resección completa del tumor glómico con reconstrucción vascular en 2 casos, endarterectomía carotídea en 3 y embolización preoperatoria en 3 casos. No se registró mortalidad perioperatoria. Tras una mediana de seguimiento de 5,8 ± 3,9 años, la lesión neurológica fue la complicación más frecuente (un nervio hipogloso, disfonía en 2 casos y glosofaríngeo en otro). El estudio GRS fue posible en 17 pacientes (mortalidad 19,2% [5], pérdida de seguimiento 15,4% [4]). Uno de los pacientes mostró hallazgos anormales en el estudio que no fueron detectados con angio-TC, confirmándose quirúrgicamente una recidiva local. Conclusiones: La GRS es una técnica útil para la detección de tumores neuroendocrinos primarios y metastásicos. Esta técnica permite la distinción entre paragangliomas carotídeos y otros tumores de cabeza y cuello, siendo válida para el seguimiento postoperatorio y la detección de recurrencias (AU)

Introduction: Octreotide is an active synthetic analogue of Indium-111-labelled somatostatin. It has the ability to bind to their receptors, especially present in neuroendocrine cells. The objective is to evaluate the usefulness of somatostatin receptor scintigraphy (GRS) for the detection of recurrences or residual tumours of carotid paragangliomas. Material and methods: A total of 29 cases in 26 patients treated between January 1996 and December 2010 were considered for analysis. GRS studies were compared with CT angiography and the clinical and pathological findings. We recorded demographic, therapeutic techniques and monitoring data. Results: Mean age 68 years (r-27-82), 76.9% female, complete resection of glomus tumour with vascular reconstruction in 2 cases, CEA in 3 patients, and preoperative embolization in three cases. There was no perioperative mortality. After a mean of 5.8±3.9 years, neurological injury was the most common complication (hypoglossal nerve injury in one case, dysphonia in two cases, and glossopharyngeal injury in another). The GRS study was possible in 17 patients (19.2% mortality, 15.4% lost to follow-up). One of the patients showed abnormal findings in GRS study that were not detected in CT; confirmed surgically as a local recurrence. Conclusions: The GRS is a useful technique for the detection of primary and metastatic neuroendocrine tumours. This technique helps to distinguish between carotid paragangliomas and other head and neck tumours, and is valid for the monitoring and detection of postoperative recurrence (AU)

Síndrome compartimental agudo extremidad inferior después de cirugía cardíaca / Acute compartment syndorme lower extremity after cardiac surgery

El síndrome compartimental agudo en el postoperatorio de cirugía cardiaca bajo circulación extracorpórea y especialmente tras revascularización miocárdica quirúrgica, es una complicación grave que se presenta de manera excepcional en las primeras horas del postoperatorio, requiere para su diagnóstico un alto nivel de sospecha y precisa de actuación quirúrgica urgente. Presentamos un caso de síndrome compartimental en la extremidad inferior de un paciente afecto de patología valvular aórtica degenerativa y enfermedad coronaria asociada, sometido a remplazo valvular por prótesis y bypass aortocoronario con injertos venosos y arterial, con especial atención hacia el mecanismo fisiopatológico que desencadena esta grave complicación, necesidad de un diagnóstico preciso y precoz y atención quirúrgica inmediata (AU)

Acute compartmental syndrome in the postoperative period of cardiac surgery with cardiopulmonary bypass, especially aftercoronary artery bypass graft surgery is a severe complication that rarely occurs during the firsts hours after surgery; diagnosis requires a high level of suspicion and emergency surgical treatment. We report a case of compartmental syndrome of lower extremity in a patient with degenerative aortic valve disease and associated coronary disease, who underwent valve replacement and aortocoronary bypass with venous ad arterial grafts, pointing at the pathophysiological mechanisms that triggers this serious complication, and the need for early and accurate diagnosis and inmmediate surgical management (AU)

Actualización en el manejo terapéutico del fenómeno de Raynaud / Update on the therapeutic management of raynaud´s Phenomenon

El fenómeno de Raynaud es un proceso vasoespástico que afecta típicamente a las partes acras de las extremidades en respuesta al frío o a estímulos mecánicos o emocionales. Este fenómeno se clasifica como primario cuando no se evidencia una causa subyacente, y secundario cuando existe una entidad patológica asociada. Esta distinción es importante pues condiciona el pronóstico, la gravedad y el tratamiento. Fisiológicamente, el equilibrio vasomotor se mantiene por complejas interacciones entre el endotelio, músculo liso y el sistema nervio autónomo que inerva los vasos. En esta revisión se analizan los mecanismos implicados en su desregulación, así como las diversas aproximaciones terapéuticas de acuerdo con la evidencia médica más reciente (AU)

Raynaud´s phenomenon is a vasospactic process that typically affects the acral parts of the limbs in response to cold or emotional or mechanical stimuli. This phenomenon is classified as primary when no evidence of an underlying cause, and secondary when there is an associated pathological entity. This distinction is important because it determines the prognosis, severity and treatment. Physiologically, the vasomotor balance is maintained by complex interactions between endothelium, smooth muscle and autonomic nervous system innervates the vessels. This review discusses the mechanisms involved in deregulation, and the various therapeutic approaches according the latest medical evidence (AU)

Seguimiento evolutivo de la influencia del cese del hábito tabáquico en una población sana sobre la concentración sérica de lípidos / Evolutive follow-up of the influence of smoking cessation in a healthy population on lipid serum concentration

Hipótesis: El tabaco repercute sobre el perfil lipídico de los fumadores. Las campañas contra el hábito de fumar han propiciado una caída en su consumo. Objetivos: Se trata de estudiar los cambios en el perfil de lípidos en sangre tras un seguimiento de once años en función de las variaciones en la prevalencia del tabaquismo. Material y métodos: Población de 1.795 varones sanos con edades comprendidas entre 30 y 50 años. Se determinó la prevalencia del hábito tabáquico, colesterol total, c-LDL, c-HDL, triglicéridos e índice de masa corporal (IMC) en los años 1995, 2000 y 2005. Resultados: Las tasas de tabaquismo inicial y final fueron del 36,1 y 19% respectivamente. Tras la caída del consumo de tabaco, los índices de masa corporal inicial y final fueron de 24,8 ± 3,2 y 25,3 ± 3,3 kg/m2, respectivamente, sin encontrarse diferencias significativas entre ambos. El colesterol descendió un 7%. El c-HDL pasó de 46,0 ± 10 a 56,0 ± 14 mg/dl. Los triglicéridos descendieron en un 12%. No hubo diferencias significativas en las concentraciones de c-LDL. Conclusiones: A lo largo de los once años de estudio, se produjo una caída en el consumo de tabaco en esta población superior a la media nacional. Se observó un incremento significativo de c-HDL y un descenso de los triglicéridos y del colesterol total. No se modificaron las cifras de c-LDL (AU)

Hypothesis: Tobacco has a repercussion on the lipid profile of smokers. Anti-smoking campaigns have brought about a fall in tobacco consumption. Objectives: It has been aimed to study the changes in the lipid profile in blood after an 11-year follow-up based on variations in smoking prevalence. Material and methods: A population of 1795 healthy males, aged 30 to 50 years. Prevalence of smoking was determined as well as total cholesterol, LDL-c, HDL-c, triglycerides and body mass index (BMI) for the years 1995, 2000 and 2005. Results: The rates of initial and final smoking habit were 36.1% and 19%, respectively. After the fall in tobacco consumption, the initial and final body mass indexes were 24.8 ± 3.2 and 25.3 ± 3.3 kg/m2, respectively, without finding significant differences between them. Cholesterol decreased by 7%. HDL-c went from 46.0 ± 10 to 56.0 ± 14 mg/dl. Triglycerides decreased by 12%. There were no significant differences in the LDL-c concentrations. Conclusions: During the 11 years of the study, there was a greater decrease in the consumption of tobacco in this population than in the national mean. A significant increase was observed of HDL-c and decrease of triglycerides and total cholesterol. The LDL-c le vels were not modified (AU)

Characterization of novel monoclonal antibodies able to identify neurogenic niches and arrest neurosphere proliferation and differentiation.

Two monoclonal antibodies (Nilo1 and Nilo2) were generated after immunization of hamsters with E13.5 olfactory bulb-derived mouse neurospheres. They are highly specific for neural stem and early progenitor cell surface antigens. Nilo positive cells present in the adult mouse subventricular zone (SVZ) were able to initiate primary neural stem cell cultures. Moreover, these antibodies added to neurosphere cultures induced proliferation arrest and interfered with their differentiation. In the lateral ventricles of adult mice, Nilo1 stained a cell subpopulation lining the ventricle and cells located in the SVZ, whereas Nilo2 stained a small population associated with the anterior horn of the SVZ at the beginning of the rostral migratory stream. Co-staining of Nilo1 or Nilo2 and neural markers demonstrated that Nilo1 identifies an early neural precursor subpopulation, whereas Nilo2 detects more differentiated neural progenitors. Thus, these antibodies identify distinct neurogenic populations within the SVZ of the lateral ventricle.

Tratamiento endovascular del síndrome de vena cava superior: nuestra experiencia clínica en la última década / Endovascular treatment of superior vena cava syndrome: 10 years of clinical experience

Introducción. El síndrome de vena cava superior (SVCS) está causado por una difi cultad del retornovenoso debido fundamentalmente a patología tumoral maligna, siendo menos frecuentela etiología benigna (marcapasos, catéteres permanentes, etc.).Objetivo. Revisamos nuestra experiencia en el tratamiento endovascular de este síndrome y sumanejo terapéutico.Pacientes y métodos. Entre 1998 y 2008 se realizaron un total de 13 procedimientos endovasculares(angioplastia transluminal percutánea y stent autoexpandible) en pacientes con SVCS, 10(77 %) de los cuales eran hombres y tres (23 %) mujeres, con una edad media de 63,5 ± 13 años(42-80). La etiología fue en 6 casos de carcinoma de pulmón (46,2 %), en un caso de carcinomade esófago (7,6 %), en tres, de metástasis en mediastino (23,1 %) y otros tres con presencia devía central para tratamiento con quimioterapia (23,1 %).Resultados. El procedimiento endovascular fue óptimo en 12 casos y se produjo migración delstent en un caso. El abordaje fue femoral en 10 casos (77 %) y braquial en 3 (23 %). Once pacientes(84,6 %) fueron intervenidos con anestesia local y dos (15,4 %) con general por sus problemassistémicos. Ningún paciente murió en relación con la intervención. La mejoría clínica fue inmediata.Durante el seguimiento a 10 años, 7 pacientes fallecieron como consecuencia de la progresiónde su enfermedad y se observaron dos recurrencias (15,4 %), que se trataron con angioplastia.La tasa de supervivencia de la serie fue del 46,2 %.Conclusiones. El tratamiento endovascular del SVCS es un procedimiento efi caz y seguro, queproporciona una rápida mejoría en la calidad de vida del paciente y en los síntomas compresivos.El régimen de anticoagulación óptimo debe ser definido(AU)

Introduction. The superior vena cava syndrome (SVCS) is caused by the diffi culty of venousreturn mainly due to malignant tumour pathology, and less commonly due to benign aetiology(pacemakers, indwelling catheters, etc.).Objective. We reviewed our experience in the endovascular treatment of this syndrome and itstherapeutic management.Patients and methods. Between 1998 and 2008 a total of 13 endovascular procedures(percutaneous transluminal angioplasty and self-expandable stent) were performed on patientswith SVCS, 10 (77 %) of whom were male and three (23 %) females, mean age 63.5 ± 13 years(42-80). The cause was lung cancer in 6 cases of (46.2 %), one case of oesophageal carcinoma(7.6 %), three mediastinal metastases (23.1 %) and three due to a central line for chemotherapy(23.1 %).Results. The endovascular procedure was optimal in 12 cases, resulting in migration of the stentin one case. The approach was femoral in 10 cases (77 %) and brachial in three (23 %). Localanaesthesia was used in 11 patients (84.6 %), two (15.4 %) with general anaesthetic due tosystemic problems. No patients died in relation to the intervention. Clinical improvement wasimmediate. During the 10 years follow up, 7 patients died from progression of their disease andtwo recurrences (15.4 %) were observed and treated with angioplasty. The survival rate of theseries was 46.2 %.Conclusions. Endovascular treatment of SVCS is a safe and effective procedure that providesrapid improvement in quality of life of patients and the compressive symptoms. The optimalanticoagulation regimen must be defined(AU)

Tratamiento endovascular del síndrome de vena cava superior: nuestra experiencia clínica en la última década / Endovascular treatment of superior vena cava syndrome: our clinic experience in the last 10 years

INTRODUCCIÓN. El síndrome de vena cava superior (SVCS) está causado por una dificultad del retorno venoso debido fundamentalmente a patología tumoral maligna, siendo menos frecuente la etiología benigna (marcapasos, catéteres permanentes...). OBJETIVO. Revisamos nuestra experiencia en el tratamiento endovascular de este síndrome y su manejo terapéutico. PACIENTES Y METODOLOGÍA. Entre 1998 y 2008 se realizaron un total de 13 procedimientos endovasculares (PTA y Stent autoexpandible) en pacientes con SVCS, 10 (77%) de los cuáles eran hombres y 3 (23%) mujeres, con una edad media de 63,45 años. La etiología fue en 6 casos de carcinoma de pulmón (46,2%), 1 caso de carcinoma de esófago (7,6%), 3 de metástasis en mediastino (23,1%) y otros 3 con presencia de vía central para tratamiento con quimioterapia (23,1%). RESULTADOS. El procedimiento endovascular fue óptimo en 12 casos, produciéndose migración del stent en 1 caso. El abordaje fue femoral en 10 casos (77%) y braquial en 3 (23%). 11 pacientes (84,6%) fueron intervenidos con anestesia local y 2 (15,4%) con general por sus problemas sistémicos. Ningún paciente murió en relación con la intervención. La mejoría clínica fue inmediata. 2 recurrencias (15,4%) fueron observadas y tratadas con angioplastia. Durante el seguimiento a los 10 años, 7 pacientes fallecieron como consecuencia de la progresión de su enfermedad. CONCLUSIONES. El tratamiento endovascular del SVCS es un procedimiento eficaz y seguro, que proporciona una rápida mejoría en la calidad de vida del paciente y en los síntomas compresivos. El régimen de anticoagulación óptimo debe ser definido (AU)

INTRODUCTION. The superior vena cava syndrome (SVCS) is caused by a difficulty of the venous return mainly due to malignant tumors, with less frequent benign (pacemakers, catheters permanent ...). OBJECTIVE. We reviewed our experience in endovascular treatment of this syndrome and its therapeutic management. PATIENTS AND METHODS. Between 1998 and 2008 were a total of 13 endovascular procedures (PTA and Stent self) in patients with SVCS, 10 (77%) of whom were men and 3 (23%) females, mean age 63.45 years. The etiology was in 6 cases of carcinoma of the lung (46.2%), 1 case of esophageal carcinoma (7.6%), 3 metastases in the mediastinum (23.1%) and 3 in the presence of central route to treatment with chemotherapy (23.1%). RESULTS. The endovascular procedure was optimal in 12 cases, stent migration occurred in 1 case. The approach was femoral in 10 cases (77%) and chest circumference in 3 (23%). 11 patients (84.6%) were operated under local anesthesia and 2 (15.4%) with their general systemic problems. No patient died in relation to the intervention. Clinical improvement was immediate. 2 recurrences (15.4%) were observed and treated with angioplasty. During follow-up to 10 years, 7 patients died of progression of their disease. CONCLUSIONS. Endovascular treatment of SVCS is a safe and effective procedure that provides a rapid improvement in quality of life and compressive symptoms. The optimal anticoagulation regime must be defined (AU)

Variability in the response of human dendritic cells stimulated with Porphyromonas gingivalis or Aggregatibacter actinomycetemcomitans.

BACKGROUND AND OBJECTIVE: Dendritic cells are able to prime and polarize naïve T cells towards either a T helper 1 or a T helper 2 response, depending on the antigen type and concentration, the costimulatory signals and the local cytokine millieu. In this investigation, we analyzed the response of human dendritic cells to stimulation with different concentrations of Porphyromonas gingivalis or Aggregatibacter actinomycetemcomitans. MATERIAL AND METHODS: Using different concentrations of P. gingivalis ATCC33277 and A. actinomycetemcomitans ATCC 33384, we determined the expression of the maturation markers CD80 and CD86 from purified human dendritic cells by flow cytometry. We also evaluated the mRNA expression levels for the cytokines interleukin-1beta, interleukin-2, interleukin-5, interleukin-6, interleukin-10, interleukin-12, interleukin-13, interferon-gamma, tumor necrosis factor-alpha and tumor necrosis factor-beta by quantitative real-time reverse transcription-polymerase chain reaction. RESULTS: Both P. gingivalis and A. actinomycetemcomitans led to dendritic cell maturation, but the expression of CD80 was higher when the dendritic cells were stimulated with A. actinomycetemcomitans. Although both pathogens induced a T helper 1 pattern of cytokine expression, A. actinomycetemcomitans-stimulated dendritic cells expressed interleukin-1beta, interleukin-12, interferon-gamma, tumor necrosis factor-alpha and tumor necrosis factor-beta at lower bacterial concentrations than P. gingivalis. While 10(6) bacteria/mL of P. gingivalis or 10(4) bacteria/mL of A. actinomycetemcomitans induced expression of interleukin-12p40, the expression of other cytokines required 10 to 100-fold higher concentrations of bacteria. CONCLUSION: These results demonstrate that A. actinomycetemcomitans is a more potent immunogen than P. gingivalis because, at least in vitro, it induces stronger differentiation and activation of dendritic cells. In addition, our data also show that for a given strain, the bacterial load determines the pattern of cytokines that are expressed.

Terapia multicomponente grupal del tabaquismo en Atención Primaria / No disponible

No disponible

[Chronic multifocal osteomyelitis]. / Osteomielitis crónica múltiple.

The cases of three female Guinean children are described. Bloods tests were nonspecific, showing a moderately high globular sedimentation rate. The patients received combined therapy with systemic antibiotic therapy (including local gentamicin administration in two of the three patients) and surgery. One patient returned to Guinea and was lost to follow-up. The second patient showed severe sequelae and the third patient had a favorable outcome. In recent years, the prevalence of chronic osteomyelitis in Africa has increased. Most patients have multiple bone involvement and multiple etiology. Blood cultures are negative in 40 % of patients and severe radiologic abnormalities, most commonly fractures, are frequent. A successful therapeutic regimen must be based on antibiotic and surgical treatment.