Time to -30°C as a predictor of acute success during cryoablation in patients with atrial fibrillation.

BACKGROUND: Freezing rate of second-generation cryoballoon (CB) is a biophysical parameter that could assist pulmonary vein isolation. The aim of this study is to assess freezing rate (time to reach -30°C ([TT-30C]) as an early predictor of acute pulmonary vein isolation using the CB. METHODS: Biophysical data from CB freeze applications within a multicenter, nation-wide CB ablation registry were gathered. Successful application (SA), was defined as achieving durable intraprocedural vein isolation. And SA with time to isolation under 60 s (SA-TTI<60) as achieving durable vein isolation in under 60 s. Logistic regressions were performed and predictive models were built for the data set. RESULTS: 12,488 CB applications from 1,733 atrial fibrillation (AF) ablation procedures were included within 27 centers from a Spanish CB AF ablation registry. SA was achieved in 6,349 of 9,178 (69.2%) total freeze applications, and SA-TTI<60 was obtained in 2,673 of 4,784 (55.9%) freezes where electrogram monitoring was present. TT-30C was shorter in the SA group (33.4 ± 9.2 vs 39.3 ± 12.1 s; p < 0.001) and SA-TTI<60 group (31.8 ± 7.6 vs. 38.5 ± 11.5 s; p < 0.001). Also, a 10 s increase in TT-30C was associated with a 41% reduction in the odds for an SA (odds ratio [OR] 0.59; 95% confidence interval [CI] 0.56-0.63) and a 57% reduction in the odds for achieving SA-TTI<60 (OR 0.43; 95% CI 0.39-0.49), when corrected for electrogram visualization, vein position, and application order. CONCLUSIONS: Time to reach -30°C is an early predictor of the quality of a CB application and can be used to guide the ablation procedure even in the absence of electrogram monitoring.

An international consortium in epilepsy surgery education: Clinical case-based discussions between Latin-American and Canadian Epilepsy Centers.

An international consortium with a focus on Epilepsy Surgery Education was established with members from different centers in Latin America and Canada. All members of the consortium and attendees from different centers in Latin America and Canada have been meeting to discuss epilepsy surgery cases in a virtual manner. We surveyed all to assess the value of the meetings. The results and description of these meetings are being presented.

Association between the clinical and demographic characteristics of patients undergoing cataract surgery and their prevalence of conjunctival bacteria.

PURPOSE: To identify characteristics of patients undergoing cataract surgery associated with pathogenic and antibiotic-resistant conjunctival bacteria. SETTING: Spanish tertiary hospital. DESIGN: Retrospective cross-sectional study. METHODS: Records of consecutive patients undergoing cataract surgery between July 2005 and September 2014, contained data on patient characteristics and conjunctival bacteria systematically identified with preoperative tests and anesthetic evaluation. A multivariate logistic regression associated 12 bacterial groups with every category of 17 characteristics. Odds ratio (OR), 95% CIs expressed colonization risk. RESULTS: In 14883 patients, categories associated with pathogenic bacteria were age older than 79 years with nonfermentative gram-negative bacilli (NFGNB) (OR 1.74, 1.12-2.71), enterococci (OR 1.90, 1.36-2.65), Enterobacteriaceae (OR 2.17, 1.65-2.87), and Staphylococcus aureus (OR 1.37, 1.16-1.62); obesity with S aureus (OR 1.52, 1.30-1.78), enterococci (OR 1.99, 1.47-2.68), and Enterobacteriaceae (OR 2.17, 1.70-2.77); dacryocystorhinostomy history with S aureus (OR 1.90, 1.48-2.44), Haemophilus spp. (OR 2.06, 1.37-3.11), Streptococcus pneumoniae (OR 3.14, 2.14-4.62), NFGNB (OR 2.23, 1.28-3.88), and enterococci (OR 1.80, 1.16-1.81); diabetes with S aureus (OR 1.27, 1.13-1.44), enterococci (OR 1.49, 1.19-1.87), and Enterobacteriaceae (OR 1.27, 1.04-1.54); smoking habit with Enterobacteriaceae (OR 2.11, 1.56-2.86); autumn with NFGNB (OR 2.0, 1.35-3.0); hot weather with S aureus (OR 1.23, 1.03-1.47); and lung, renal, and some heart insufficiencies with S aureus. Other staphylococci, highly antibiotic-resistant, were associated with old age, obesity, and hot weather. CONCLUSIONS: Old age, obesity, diabetes, dacryocystorhinostomy history, smoking habit, and autumn and summer seasons increased the prevalence of enterococci, staphylococci, Enterobacteriaceae, and/or NFGNB. Obesity and humid-warm weather are key for choosing a cataract surgery prophylaxis.

Gas-Solid Heterogeneous Postsynthetic Modification of Imine-Based Covalent Organic Frameworks.

The copper-catalyzed azide-alkyne cycloaddition (CuAAC) click reaction is among the most extensively used strategies for the post-polymerization modification of COFs. This work shows a new procedure for the postsynthetic functionalization of imine-based COFs by using a heterogeneous solid-gas reaction between alkyne-functionalized COFs and azides in the absence of a copper catalyst. This new alternative represents a step forward towards a greener postsynthetic modification of COFs opening a high potential for the development of new applications.

Predictive Models of Hepatocellular Carcinoma Recurrence After Liver Transplantation.

BACKGROUND: Liver transplantation (LT) is a curative treatment for patients with hepatocellular carcinoma who are not candidates for resection. Despite the generalized use of the Milan criteria and up-to-seven criteria, new markers have been proposed to predict recurrence after LT. Biomarkers such as neutrophil-lymphocyte ratio (NLR) and platelet-lymphocyte ratio (PLR), and scores such as the Model of Recurrence After Liver transplantation (MORAL) are used as predictors of post-LT recurrence. OBJECTIVE: We aim to compare NLR, PLR, and MORAL score with Milan criteria and up-to-seven criteria. METHODS: A descriptive study of 99 patients who underwent LT for hepatocellular carcinoma in our hospital between April 2010 and April 2016. The 5 prognostic models were applied to the patients to stratify them into risk groups. We used a Kaplan-Meier survival plot to measure recurrence-free survival in each model. Receiver operative curves were used to compare the models. RESULTS: Three-year recurrence-free survival in MORAL was 91.1% for the low-risk group, 89.8% for the moderate-risk group, 60% for the high-risk group, and 75% for the very high-risk group (P = .003). The combined MORAL score was superior in predicting 1- and 3-year recurrence with the area under the curve 0.684 (95% confidence interval [CI]: 0.52-0.85) compared with Milan (0.536 [95% CI: 0.37-0.70]), up-to-seven (0.601 [95% CI: 0.43-0.77]), PLR (0.452 [95% CI: 0.30-0.61]), and NLR (0.542 [95% CI: 0.37-0.71]). CONCLUSIONS: A model based only on pre-LT radiological signs leads to underdiagnosis of tumor load; therefore, the risk of recurrence must be recalculated after LT. The combined MORAL score was the best prognostic model of 1- and 3-year recurrence after LT in our study.

[Nutritional status of a population with moderate-severe cerebral palsy: Beyond the weight]. / Situación nutricional en una población con parálisis cerebral moderada-grave: más allá del peso.

INTRODUCTION: Cerebral palsy (CP) is the most frequent cause of motor disability in the paediatric age. The aim of this article is the study of the nutritional status of patients with CP followed-up in a reference hospital, as well as the relationship between neurological and nutritional state. MATERIAL AND METHODS: A cross-sectional, observational, descriptive and analytical study was conducted on a sample consisting of 4-15years old patients with CP with Gross Motor Function Classification System (GMFCS) gradesIII-IV-V, from a specialised paediatric hospital reference area. An interview (collection of general data, medications and nutritional habits), anthropometric study and bioimpedance (BIA) measurements were carried out. RESULTS: The study included 69 patients (recruitment 84.15%), with a mean age of 10.46±0.43years, and 50.7% females. The distribution according to GMFCS scale was: gradeIII (36.2%), gradeIV (29%), and gradeV (34.8%). According to weight for height: moderate malnutrition 21.8% (gradeV: 33.3%), severe malnutrition 5.8% (gradeV: 12.6%), overweight/obesity 23.2% (gradeIII: 24%, gradeIV: 35%). Adequate level of lean mass for height: gradeIII (36%), gradeIV (55%), and gradeV (16.7%). Fat excess: gradeIII (36%), gradeIV (40%), and gradeV (29.2%). Fat mass comparison: BIA 6.89±0.64kg versus anthropometry 5.56±4.43kg. CONCLUSIONS: In CP grade GMFCSV, the weight deficit associated with a decrease in lean body mass is common. Patients with CP grades GMFCSIII-IV have a significant prevalence of overweight/obesity. Anthropometry is a useful tool for nutritional assessment in children with CP, although fat levels could be underestimated.

Breast-conserving surgery in breast cancer and intraoperative radiotherapy. Can we predict the fibrosis? / Cirugía conservadora de cáncer de mama y radioterapia intraoperatoria. ¿Podemos predecir la fibrosis?

INTRODUCTION: Radiotherapy techniques associated with breast-conserving surgery have evolved in early breast cancer thanks to a better knowledge of tumor radiobiology, highlighting intraoperative radiotherapy (IORT). However, complications have been documented with this procedure, mainly fibrosis. Transforming growth factor beta (TGF-ß) is a cytokine with an active role in radiation-induced fibrosis, which could be used as an early biomarker for the development of fibrosis. METHODS: Multicentric prospective analysis of 60 patients with breast cancer who underwent breast-conserving surgery, 30 of whom had received additional IORT. TGF-ß values were evaluated in serum pre-surgery and in serum collected 24h after surgery. In addition, we evaluated surgical wound fluids collected 6h and 24h following surgery. RESULTS: Serum and surgical wound fluids TGF-ß values collected over 24h following surgery were significantly higher in patients who received additional IORT (P<.0001). Notably, 8 of these patients showed values above 1,000pg/ml. There were no differences between the samples (serum or surgical wound fluids) (P=.5881). CONCLUSIONS: Although further investigation is needed, higher TGF-ß values in IORT during breast-conserving surgery can be used as an early biomarker for the development of fibrosis.

The human gallbladder microbiome is related to the physiological state and the biliary metabolic profile.

BACKGROUND: The microbial populations of the human intestinal tract and their relationship to specific diseases have been extensively studied during the last decade. However, the characterization of the human bile microbiota as a whole has been hampered by difficulties in accessing biological samples and the lack of adequate methodologies to assess molecular studies. Although a few reports have described the biliary microbiota in some hepatobiliary diseases, the bile microbiota of healthy individuals has not been described. With this in mind, the goal of the present study was to generate fundamental knowledge on the composition and activity of the human bile microbiota, as well as establishing its potential relationship with human bile-related disorders. RESULTS: Human bile samples from the gallbladder of individuals from a control group, without any record of hepatobiliary disorder, were obtained from liver donors during liver transplantation surgery. A bile DNA extraction method was optimized together with a quantitative PCR (qPCR) assay for determining the bacterial load. This allows the selection of samples to perform functional metagenomic analysis. Bile samples from the gallbladder of individuals suffering from lithiasis were collected during gallbladder resection and the microbial profiles assessed, using a 16S rRNA gene-based sequencing analysis, and compared with those of the control group. Additionally, the metabolic profile of the samples was analyzed by nuclear magnetic resonance (NMR). We detected, for the first time, bacterial communities in gallbladder samples of individuals without any hepatobiliary pathology. In the biliary microecosystem, the main bacterial phyla were represented by Firmicutes, Bacteroidetes, Actinobacteria, and Proteobacteria. Significant differences in the relative abundance of different taxa of both groups were found. Sequences belonging to the family Propionibacteriaceae were more abundant in bile samples from control subjects; meanwhile, in patients with cholelithiasis members of the families Bacteroidaceae, Prevotellaceae, Porphyromonadaceae, and Veillonellaceae were more frequently detected. Furthermore, the metabolomics analysis showed that the two study groups have different metabolic profiles. CONCLUSIONS: Our results indicate that the gallbladder of human individuals, without diagnosed hepatobiliary pathology, harbors a microbial ecosystem that is described for the first time in this study. Its bacterial representatives and metabolites are different from those detected in people suffering from cholelithiasis. In this regard, since liver donors have been subjected to the specific conditions of the hospital's intensive care unit, including an antibiotic treatment, we must be cautious in stating that their bile samples contain a physiologically normal biliary microbiome. In any case, our results open up new possibilities to discover bacterial functions in a microbial ecosystem that has not previously been explored.

Posiciones y técnicas de proyección de los judokas de la Universidad Médica de Holguín / Judo´s projection techniques and positions at the Medical University of Holguín

Introducción: el presente trabajo aborda un tema de gran vigencia, en el entrenamiento deportivo actual. El desarrollo de la preparación técnica y táctica de estudiantes- atletas de ambos sexos, de la Universidad de Ciencias Médicas de Holguín (UCMHo), en el deporte de Judo. La investigación aporta una metodología sobre las técnicas de proyección en posiciones de transición, durante el entrenamiento y las competencias. Objetivo: elaborar una metodología que logre la ejecución de las técnicas de proyección en posiciones de transición, en los estudiantes- atletas de judo de la UCMHo. Métodos: se desarrolló un estudio pre-experimental de tipo exploratorio con una muestra de 16 estudiantes-atletas de la UCMHo, donde se realizó un ensayo inicial, luego se aplicó la metodología en un periodo de un año y, posteriormente, se realizó una evaluación de los resultados obtenidos. Resultados: al realizar una comparación entre los resultados logrados entre el ensayo inicial y la evaluación de la técnica que nos ocupa (la metodología), se pudo constatar una mejoría, pues en la parte preparatoria 5 sujetos fueron evaluados de excelente (E), 4 de muy bien (MB) y 5 de bien (B). En la parte principal predominaron los evaluados de bien (B) y muy bien (MB); y en la final se dispersan, pues 6 obtienen evaluación de muy bien (MB), 5 de bien (B), y 5 de regular. Conclusiones: el trabajo clarifica la utilidad de las técnicas como objeto de estudio en los entrenamientos, y su posible concertación en competencias.Todo esto fue analizado y utilizado por los entrenadores y especialistas de la provincia de Holguín, como argumento o documento de trabajo, según su aplicación, en el futuro competitivo de los atletas de Judo.

Introduction: this work shows a main topic in the sports training: the development of the technique and tactic in both sex students- athletes of Judo, at the Medical University of Holguín. The investigation brings about projection methodology techniques, during transition positions training. Objective: to improve techniques learning and execution methodology of the students-athletes, at the Medical University of Holguín. Methods: application of scientific methods like theoretical analysis and synthesis, sistemic-structure, induction and deduction and historical-logical; empirical such as: observation, interviews, surveys, experts criteria and statistics operations, using Microsoft Excel. Methodology includes the elaboration and application of 5 projection techniques during transition positions. To demonstrate this theory, 16 athletes showed their methodological steps, variants, combinations, defense and most common mistakes. Results: the 5 techniques used by practitioners and trainers of Judo increased their responses during competitions. Conclusions: roles clarify techniques´ utility for training, and their possible aplication at competitions. In Holguin province, trainers and specialists analized documents and their applications in Judo future competitions.

[Direct hospitalization costs associated with chronic Hepatitis C in the Valencian Community in 2013]. / Costes de hospitalización aso- ciados a la hepatitis crónica C en la Comunidad Valenciana en 2013.

OBJECTIVE: Hospital costs associated with Chronic Hepatitis C (HCC) arise in the final stages of the disease. Its quantification is very helpful in order to estimate and check the burden of the disease and to make financial decisions for new antivirals. The highest costs are due to the decompensation of cirrosis. METHODS: Cross-sectional observational study of hospital costs of HCC diagnoses in the Valencian Community in 2013 (n= 4,486 hospital discharges). Information source: Minimum basic set of data/ Basic Minimum Data Set. The costs were considered according to the rates established for the DRG (Diagnosis related group) associated with the episodes with diagnosis of hepatitis C. The average survival of patients since the onset of the decom- pensation of their cirrhosis was estimated by a Markov model, according to the probabilities of evolution of the disease existing in Literatura. RESULTS: There were 4,486 hospital episodes, 1,108 due to complications of HCC, which generated 6,713 stays, readmission rate of 28.2% and mortality of 10.2%. The hospital cost amounted to 8,788,593EUR: 3,306,333EUR corresponded to Cirrhosis (5,273EUR/patient); 1,060,521EUR to Carcinoma (6,350EUR/ patient) and 2,962,873EUR to transplantation (70,544EUR/paciente. Comorbidity was 1,458,866EUR. These costs are maintai- ned for an average of 4 years once the cirrhosis decompensation begins. CONCLUSIONS: Cirrhosis due to HCC generates a very high hospitalization's costs. The methodology used in the estimation of these costs from the DRG can be very useful to evaluate the trend and economic impact of this disease.

OBJETIVO: Los costes hospitalarios asociados a la Hepatitis Crónica C (HCC) surgen en los estadíos finales de la enfermedad. Su cuantificación es de gran utilidad para estimar la carga de la enfermedad y establecer decisiones de financiación de los nuevos antivirales. Los costes más elevados son motivados por la descompensación de la cirrosis. METODOS: Estudio observacional de corte transversal de los costes hospitalarios de episodios con diagnóstico de HCC en la Comunidad Valenciana en 2013. Fuente de información: Conjunto mínimo básico de datos. Se estimaron los costes según las tarifas establecidas para los GRD (Grupos relacionados por el diagnóstico) asociados a los episodios con diagnóstico de hepatitis C. La supervivencia media de los pacientes desde que se inició la descompensación de su cirrosis se estimó mediante un modelo de Markov, según las probabilidades de evolución de la enfermedad existentes en la literatura. RESULTADOS: Se registraron 4.486 episodios de hospitalización con diagnóstico de HCC, 1.108 fueron debidos a complicaciones de la HCC que generaron 6.713 estancias, tasa de reingresos del 28,2 % y mortalidad del 10,2%. El coste hospitalario ascendió a 8.788.593EUR: 3.306.333EUR correspondieron a Cirrosis (5.273EUR/paciente); 1.060.521EUR a Carcinoma (6.350EUR/ paciente) y 2.962.873EUR a trasplante (70.544EUR/paciente). La comorbilidad por Hepatitis C supuso 1.458.866EUR. Estos costes se mantienen durante una media de 4 años una vez comienza la descompensación de la cirrosis. CONCLUSIONES: La cirrosis por HCC genera un coste muy elevado por hospitalización, la metodología utilizada en la estimación de estos costes a partir de los GRD puede ser de gran utilidad para evaluar la tendencia e impacto económico de esta enfermedad.

One Versus 2-stent Strategy for the Treatment of Bifurcation Lesions in the Context of a Coronary Chronic Total Occlusion. A Multicenter Registry.

INTRODUCTION AND OBJECTIVES: There is little evidence on the optimal strategy for bifurcation lesions in the context of a coronary chronic total occlusion (CTO). This study compared the procedural and mid-term outcomes of patients with bifurcation lesions in CTO treated with provisional stenting vs 2-stent techniques in a multicenter registry. METHODS: Between January 2012 and June 2016, 922 CTO were recanalized at the 4 participating centers. Of these, 238 (25.8%) with a bifurcation lesion (side branch ≥ 2mm located proximally, distally, or within the occluded segment) were treated by a simple approach (n=201) or complex strategy (n=37). Propensity score matching was performed to account for selection bias between the 2 groups. Major adverse cardiac events (MACE) consisted of a composite of cardiac death, myocardial infarction, and clinically-driven target lesion revascularization. RESULTS: Angiographic and procedural success were similar in the simple and complex groups (94.5% vs 97.3%; P=.48 and 85.6% vs 81.1%; P=.49). However, contrast volume, radiation dose, and fluoroscopy time were lower with the simple approach. At follow-up (25 months), the MACE rate was 8% in the simple and 10.8% in the complex group (P=.58). There was a trend toward a lower MACE-free survival in the complex group (80.1% vs 69.8%; P=.08). After propensity analysis, there were no differences between the groups regarding immediate and follow-up results. CONCLUSIONS: Bifurcation lesions in CTO can be approached similarly to regular bifurcation lesions, for which provisional stenting is considered the technique of choice. After propensity score matching, there were no differences in procedural or mid-term clinical outcomes between the simple and complex strategies.

Meat quality, free fatty acid concentration, and oxidative stability of pork from animals fed diets containing different sources of selenium.

This study evaluates the effect of the source of dietary selenium supplementation (organic versus mineral) and the combined effect of organic selenium and vitamin E on the fatty acid composition and lipolysis in pork intramuscular fat and other meat quality characteristics such as drip loss and lipid stability. Higher vitamin E deposition, lower drip loss, and higher stability against oxidation were detected in muscle from pigs fed organic selenium. Also higher proportion of free fatty acids was observed in intramuscular fat from pigs fed organic selenium than those fed inorganic selenium, being these mainly coming from neutral lipid fraction. In addition, the inclusion of vitamin E in the diet enhanced such effect. Dietary organic selenium also increased Δ9-desaturase and elongase indexes and C18:1n-9 concentration. A related decrease of C18:0 concentration was also observed. Described differences in the lipid fraction composition could affect sensory characteristics of meat and meat products.

[Idiopathic intracranial hypertension: Experience over 25 years and a management protocol]. / Hipertensión intracraneal idiopática: experiencia en 25 años y protocolo de actuación.

INTRODUCTION: We present our experience on idiopathic intracranial hypertension (IIH), before and after the introduction of a specific diagnosis and management protocol. METHOD: A descriptive retrospective study was conducted on patients with IIH over a 25year period (1990-2015), comparing the last 7years (after introduction of the protocol) with the previous 18years. RESULTS: Among the 18,865 patients evaluated, there were 54 cases of IIH (29 infants and 25 children). A comparison was made between the two time periods: 32 cases in 1990-2008 -published in An Pediatr (Barc). 2009;71:400-6-, and 23 cases in 2008-2015. In post-protocol period, there were 13 patients aged between 3-10months (62% males) with transient bulging fontanelle, and 10 aged between 2-14years (50% males), with papilloedema. A total of 54% of infants had recently finished corticosteroid treatment for bronchitis. In the older children, there was one case associated with venous thrombosis caused by otomastoiditis, one case on corticosteroid treatment for angioma, and another case treated with growth hormone. Transfontanelle ultrasound was performed on all infants, and CT, MRI and angio-MRI was performed on every child. Lumbar puncture was performed on 2 infants in whom meningitis was suspected, and in all children. All patients progressed favourably, with treatment being started in 3 of them. One patient relapsed. DISCUSSION: Characteristics and outcomes of patients overlap every year. IIH usually has a favourable outcome, although it may be longer in children than in infants. It can cause serious visual disturbances, so close ophthalmological control is necessary. The protocol is useful to ease diagnostic decisions, monitoring, and treatment.

Clinical, Anatomical, and Pathological Grading Score to Predict Technical Difficulty in Laparoscopic Splenectomy for Non-traumatic Diseases.

BACKGROUND: We aimed to develop a grading system based on preoperative parameters that would predict surgical difficulty and morbidity in elective laparoscopic splenectomy. STUDY DESIGN: We retrospectively assessed morbidity in 439 patients who underwent laparoscopic splenectomy for benign and malignant disorders between 1993 and 2013. Medical and surgical records were reviewed and analyzed. We compared preoperative data concerning demographic, clinical, pathological, anatomical, laboratory, and radiological factors with three surgical outcomes: operative time, intraoperative bleeding, and surgical conversion. Univariate and multivariate analyses were performed to identify statistically significant variables. A logistic regression model was used to identify determinant variables and to compose a predictive score. External validation of the score was performed using an independent cohort of 353 patients. RESULTS: Four preoperative parameters (age, male sex, type of pathology, and spleen size based on final spleen weight) were significantly related with operative time, operative bleeding, and conversion to open surgery. Using these results, we developed a classification system with three levels of difficulty: low (≤4 points), medium (4.5-5.5 points), and high (≥6 points), based on the four preoperative parameters. The correlation was highly significant (p = <0.001) according to Spearman's correlation. The area under the ROC curve was 0.671 (95 % CI 0.596-0.745). The external validation showed significant correlations with the present model. CONCLUSIONS: The grading score described here is simple to calculate from the physical examination, laboratory tests, and US or CT images, and we believe it could be useful to preoperatively assess the technical complexity of laparoscopic splenectomy.

[Phenotypic variations in Aicardi-Goutieres syndrome caused by RNASEH2B gene mutations: report of two new cases]. / Variaciones fenotípicas en el síndrome de Aicardi-Goutières causado por mutaciones en el gen RNASEH2B: presentación de dos nuevos casos.

INTRODUCTION: Aicardi-Goutieres syndrome is a rare immune disorder due to mutations in seven different genes that encode proteins called TREX1, ribonuclease H2 complex, SAMHD1, ADAR and IDIH1 (MDA5), which are involved in acid nucleic metabolism. Two cases are described in detail below caused by RNASEH2B gene mutation, one of which displays a mutation no described to date. CASE REPORTS: Case 1: male consulting because from 5-month-old shows loss of maturity items acquired until then, coming with several fever episodes. Case 2: a 4-month-old boy showing since 2-month-old great irritability and oral-feeding trouble with severe psychomotor impairment. In both cases it was found an increase of pterines in the cerebrospinal fluid, mainly neopterine, with calcifications in the basal ganglia. The diagnosis was proved by sequencing RNASEH2B gene, founding in case 2 a new mutation not described previously. CONCLUSIONS: The reported cases belong to the description already done by Aicardi-Goutieres, it should be noticed this syndrome in a patient with a subacute encephalopathy of debut in the first year of life, dystonia/spasticity in variable degree and important affectation/regression of psychomotor development, particularly in those with increase of pterines (neopterine) in the cerebrospinal fluid and calcifications in the basal ganglia.

TITLE: Variaciones fenotipicas en el sindrome de Aicardi-Goutieres causado por mutaciones en el gen RNASEH2B: presentacion de dos nuevos casos.Introduccion. El sindrome de Aicardi-Goutieres es un trastorno inmunitario raro debido a mutaciones en siete genes que codifican proteinas llamadas TREX1, el complejo ribonucleasa H2, SAMHD1, ADAR e IFIH1 (MAD5), las cuales estan implicadas en el metabolismo de los acidos nucleicos. A continuacion se presentan dos nuevos casos por mutacion en el gen RNASEH2B, uno de los cuales presenta una mutacion no descrita hasta la fecha. Casos clinicos. Caso 1: varon que consulto porque desde los 5 meses, coincidiendo con cuadros febriles de repeticion, presentaba perdida de los items madurativos adquiridos hasta la fecha. Caso 2: niño de 4 meses que desde los 2 meses mostraba gran irritabilidad con dificultades en la alimentacion, asociado a un grave retraso psicomotor. En ambos casos se constato un aumento de las pterinas en el liquido cefalorraquideo, principalmente de la neopterina, con calcificaciones en los ganglios basales. El diagnostico se confirmo mediante secuenciacion del gen RNASEH2B; el caso 2 presentaba una mutacion no descrita en la literatura medica. Conclusiones. Los casos corresponden a la descripcion clasica realizada por Aicardi-Goutieres. Debe tenerse en cuenta este sindrome ante un paciente con un cuadro de encefalopatia subaguda de comienzo en el primer año de vida, distonia/espasticidad en grado variable e importante afectacion/regresion del desarrollo psicomotor, especialmente si asocia aumento de las pterinas (neopterina) en el liquido cefalorraquideo y calcificaciones en los ganglios basales.

Características relacionadas con escaldaduras en menores de 5 años en un Hospital Pediátrico en la Ciudad de México, 2011 / Features related with scalds in children under 5 years old in a pediatric hospital in Mexico City, 2011.

Introducción: Las quemaduras son lesiones de los tejidos producidas por una agresión cutánea de energía térmica cuya clasificación varía de acuerdo a la gravedad. Representan un problema de salud pública especialmente en los niños por su elevada letalidad y los años de vida perdidos por discapacidad. Objetivo: Identificar las características relacionadas con la ocurrencia de escaldaduras en niños menores de 5 años, en un Hospital Pediátrico de la Ciudad de México, 2011. Material y Métodos: Se empleó un diseño de casos-autocontroles en 60 niños menores de 5 años que presentaron escaldadura. La evaluación de algunas variables se obtuvo mediante el diligenciamiento de un cuestionario estructurado por parte de los cuidadores. Se definieron dos periodos de estudio; el primero denominado "periodo de riesgo" que incluyó la evaluación de los eventos ocurridos 15 minutos previos a la escaldadura y el segundo, denominado "periodo de control" que evaluó las 24 horas previas a la ocurrencia del evento. Resultados: La muestra estuvo conformada por 60 menores, 70% (n=42) de los participantes fueron varones. El promedio de edad fue 2.2 años (ds=1.2). El 95% de las escaldaduras ocurrieron en el hogar, 61.4% se presentaron en la cocina y 15.8% en el baño. Cerca del 70% de los participantes tenía bajo nivel socioeconómico, 86.7% vivía en condiciones de hacinamiento. El rango horario en el cual se presentaron con mayor frecuencia fue entre las 12 a 18 horas. La única asociación encontrada se dio cuando el cuidador estaba cocinando (OR 6.8, IC95% 1.9-24.9) Conclusiones: Identificar las características relacionadas con las escaldaduras en menores de cinco años es fundamental para impulsar medidas preventivas que reduzcan el riesgo de vivir con secuelas derivados de estas lesiones. Los cuidadores deben mejorar la supervisión de los niños a su cargo, en especial al interior de las cocinas.

Introduction: Burns are injuries of tissues caused by skin aggression thermal energy. Their classification varies according to gravity. Such injuries are a public health problem especially in children because of its high fatality rate and years of life lost due to disability. Objective: Identify the characteristics associated with the occurrence of scalds in children under 5 years in a Pediatric Hospital in Mexico City, 2011 Methodology: We employed a case crossover design on a sample of 60 children under 5 years old with scalding, to whom we applied a structured questionnaire to their caregivers. We defined two study periods: risk period, 15 minutes pre-scald and control period 24 hours prior to the occurrence of the event. Results: Of the sample of 60 children, 70% (n:42) were male, mean age 2.2 years (sd:1.2); 95% of scalds occurred at home, 61.4% occurred in the kitchen and 15.8% in the bathroom. About 70% of them had low socioeconomic status, 86.7% were living in overcrowded conditions. The times of higher occurrence of events were between 12 to 18 hours. The only association found was when the caregiver was cooking (OR 6.8, CI 95% 1.9 - 24.9). Conclusions: To identify the risk factors and characterize the scald in children under than five years old are fundamentals aspects to promote promotion and preventive program to reduce risk of live with physical and psychological disability from these causes of injuries. The caregiver should to have more attention to the children they supervise, in special within kitchen.

[A novel neurocutaneous syndrome: Legius syndrome. A case report]. / Un nuevo síndrome neurocutáneo: síndrome de Legius. A propósito de un caso.

INTRODUCTION: Legius syndrome is an autosomal dominant disorder caused by the mutation in the SPRED1 gene involving a negative regulator of the RAS-MAPK pathway, similar to neurofibromin and therefore shows some clinical similarities to neurofibromatosis type I (NF1) but less severe. These patients have multiple cafe-au-lait spots, sometimes associated with skin fold freckling, dysmorphic features, lipomas, and mild learning disabilities. However, this syndrome is not associated with neurofibromas, optic gliomas, Lisch nodules or tumor predisposition. CASE REPORT: We present a 10 months child, without a personal interest history, consulting by hypotonic extremities, cafe-au-lait spots and mild psychomotor difficult. Mother's sister and grandfather have some cafe-au-lait spots. In our patient, NF1 genetic study was negative, but we observe a mutation in the SPRED1 gene, compatible with Legius syndrome. Asymptomatic mother shows the same mutation in SPRED1 gene. CONCLUSION: We emphasize the relevance of the differential diagnosis of NF1 with respect to numerous complications to appear, with a better prognosis recently described entity as it is Legius syndrome.

TITLE: Un nuevo sindrome neurocutaneo: sindrome de Legius. A proposito de un caso.Introduccion. El sindrome de Legius es un trastorno autosomico dominante resultante de la mutacion del gen SPRED1, que implica perdida de funcion de una de las proteinas implicada en la via patogenica RAS-MAPK, similar a la neurofibromina y por ello muestra similitudes clinicas con la neurofibromatosis tipo 1 (NF1), pero con menor gravedad. Estos pacientes presentan multiples manchas cafe con leche y pueden asociar efelides, rasgos dismorficos, lipomas y trastornos del aprendizaje sin relacionarse con la aparicion de neurofibromas, gliomas opticos, nodulos de Lisch o predisposicion tumoral. Caso clinico. Niño de 10 meses, sin antecedentes personales de interes, que consulta por hipotonia de extremidades, manchas cafe con leche y leve retraso psicomotor. En los antecedentes familiares destaca una hermana de la madre y el abuelo materno con manchas cafe con leche. En nuestro paciente, el estudio genetico fue negativo para NF1, pero se hallo una mutacion en el gen SPRED1, compatible con el sindrome de Legius. La madre asintomatica presenta la misma mutacion en el gen SPRED1. Conclusion. Es de destacar la importancia del diagnostico diferencial de NF1, con las numerosas complicaciones que puede conllevar, con una entidad recientemente descrita de mejor pronostico como es el sindrome de Legius.

The role of sentinel lymph node in colon cancer evolution.

INTRODUCTION: The aim of this study is to evaluate the sentinel lymph node mapping (SLNM) with methylene blue staining "ex vivo" in colon cancer, as well as calculate the upstaging obtained by the determination of micrometastases and its correlation with the evolution of the disease. METHODS: Between 2008 and 2011, 101 patients with colon cancer undergoing resection were studied prospectively with SLNM and detection of micrometastases. The correlation of SLN micrometastases with the disease evolution was evaluated in patients with a follow-up of more than one year. RESULTS: The SLNM rate was 92 cases (91%). Only SLN was positive for micrometastases in 9 cases, with a 14% upstaging. The incidence of false negatives was 9 patients (10%). Mean follow of N0 patients (n=74) was 38 months. The SLN- (negative) group (65 patients) had a recurrence rate of 4 patients (7%), whereas this rate was 2 patients (22%) in the group of SLN+(positive) (9 patients), but without significant differences. No differences in survival were observed. CONCLUSIONS: SLNM is a reproducible technique without significant increase in time and costs. Upstaging was obtained in 14% of patients staged as N0 by conventional technique. At follow-up of N0 patients with SLN+there seems to be a higher rate of recurrence, which could change the guidelines of adjuvant treatment, but we must interpret the results it with caution because the sample is small.

Functional improvement in patients with dilated cardiomyopathy after the intracoronary infusion of autologous bone marrow mononuclear cells.

INTRODUCTION AND OBJECTIVES: Different studies have shown improvement in patients with idiopathic nonischemic dilated cardiomyopathy treated with cell-therapy. However, factors influencing responsiveness are not well known. This trial investigates functional changes and factors influencing the 6-month gain in ejection fraction in 27 patients with dilated cardiomiopathy treated with intracoronary cell-therapy. METHODS: Patients received intracoronary infusion of autologous bone-marrow mononuclear cells (mean infused, 10.2 [2.9]×10(8)). Flow cytometry and functional analyses of the cells were also performed. RESULTS: The 6-month angiographic gain in ejection fraction ranged from -9% to 34% (mean, 9%). These changes were distinguished into 2 groups: 21 patients (78%) with a significant improvement at the 6-month evaluation (mean gain, 14 [7]%), and 6 patients who had no response (mean gain, -5 [3]%). The responders were younger as compared to the nonresponders (50 [12] years vs 62 [9] years; P<.04). There was an inverse correlation (r=-0.41; P<.003) between the gain in ejection fraction and the high density lipoprotein level, suggesting higher functional gain with low high density lipoprotein levels. The 24 h migratory capability of the infused cells was significantly reduced in the responders' group (5.4 [1.7]×10(8) vs 8.1 [2.3]×10(8); P<.009 for vascular endothelial growth factor and 5.8 [1.7]×10(8) vs 8.4 [2.9]×10(8); P<.002 for stromal cell-derived factor-1). CONCLUSIONS: Younger patients with dilated cardiomiopathy and lower plasma high density lipoprotein levels gain greater benefit from intracoronary cell-therapy. Functional improvement also seems to be enhanced by a lower migratory capacity of the infused cells.