341 research outputs found
La toma de muestras intraoperatorias con hisopo para el diagnóstico precoz de una infección de prótesis total de cadera es una práctica ineficaz
El diagnóstico de infección articular periprotésica es motivo de reuniones y consensos internacionales.
Sin embargo, no hay consenso sobre cuál es la prueba más adecuada para identificar de manera profiláctica
el o los microorganismos responsables. En este trabajo se realiza un estudio retrospectivo de 1.022 pacientes a los
que se les implantaron 1.045 prótesis totales de cadera entre los años 2009-2013, ambos inclusive. Se analizan los
resultados del cultivo de muestras tomadas intraoperatoriamente identificándose los microorganismos aislados y
su correlación con la clínica de infección. Se calcularon la sensibilidad, especificidad, valores predictivos positivos
y negativos de la prueba. Se identificaron los pacientes con complicaciones infecciosas, la clasificación de los
mismos según criterios de Tsukayama y el tratamiento realizado. Concluimos que la toma rutinaria de muestras
intraoperatorias en la artroplastia primaria de cadera para intentar adelantar el diagnóstico de una infección periprotésica
es una práctica ineficaz e ineficiente y, por ello, hay que abandonarla.There are many international meetings and consensus about the diagnosis of periprosthetic joint
infection. However, there aren´t consensus about the most appropriate test to identify the prophylactically microorganisms
responsible of infection. This paper is a retrospective study of 1.022 patients with 1.045 total
hip replacements between 2009-2013. We analyzed the results of intraoperative culture samples, identified the
microorganisms and the patients with clinical infection. We calculated the sensitivity, specificity, positive and
negative predictive values of the test. The patients with infectious were identified and classified according to
criteria Tsukayama and treatment performed. We conclude that intraoperative culture samples in primary hip
arthroplasty to try to advance the diagnosis of periprosthetic infection are an ineffective and inefficient practice
and we have to stop doing it
Non-alcoholic fatty liver in hereditary fructose intolerance
Background: Non-alcoholic fatty liver disease (NAFLD) is characterized by fat accumulation affecting >5% of the liver volume that is not explained by alcohol abuse. It is known that fructose gives rise to NAFLD and it has been recently described that the ingestion of fructose in low amounts in aldolase B deficient mice is associated with the development of fatty liver. Therefore, it is reasonable that patients with HFI (Hereditary Fructose Intolerance) present fatty liver at diagnosis, but its prevalence in patients treated and with adequate follow-up is not well documented in the literature. The aim of this study is to analyze the association between HFI and NAFLD in treated patients.
Methods: A cross-sectional observational study was conducted. The population comprised 16 genetically diagnosed HFI patients aged from 3 years to 48 and in dietary treatment of fructose, sorbitol and sacarose exclusion at least for two years. Blood samples were obtained for analytical studies and anthropometric measurements of each patient were performed.
Results: Patients presented a Body Mass Index (BMI) of 17.9 ± 2.9 kg/m 2 . The HOMA index and Quick index were in normal range for our population. The S-adenosyl-methionine (SAM)/S-adenosyl-L-homocysteine (SAH) ratio was increased in the patients in whom this analysis was performed. By imaging techniques it was observed that 9 of the 16 patients presented fatty liver (7 by hepatic MRI). Of these 9 patients, only 3 presented hepatomegaly. 7 of 9 patients affected by the c.448G > C mutation had fatty infiltration, of which three of them presented in addition hepatomegaly.
Conclusions: There is a high prevalence of fatty liver in HFI patients and it is not related to obesity and insulin resistance. The diagnosis of fatty liver in HFI patients and, above all, the identification of new therapeutic approaches, can positively impact the quality of life of these patients
Preparing the COROT space mission: new variable stars in the galactic Anticenter direction
The activities related to the preparation of the asteroseismic, photometric
space mission COROT are described. Photoelectric observations, wide--field CCD
photometry, uvbyB calibrations and further time--series have been obtained at
different observatories and telescopes. They have been planned to complete the
COROT programme in the direction of the galactic Anticenter. In addition to
suitable asteroseismic targets covering the different evolutionary stages
between ZAMS and TAMS, we discovered several other variable stars, both
pulsating and geometrical. We compared results on the incidence of variability
in the galactic Center and Anticenter directions. Physical parameters have been
obtained and evolutionary tracks fitting them have been calculated. The
peculiarities of some individual stars alre pointed out. Paper based on
observations collected at the San Pedro Martir, Sierra Nevada, Teide, La Silla,
Haute-Provence and Roque de Los Muchachos (Telescopio Nazionale Galileo and
Mercator telescopes) observatories.Comment: 13 pages, 9 figures. Accepted for The Astronomical Journal (2005 May
volume
Nutrición infantil y salud ósea
Producción CientíficaMantener un adecuado estado nutricional en todas las etapas de la vida es decisivo para lograr un metabolismo óseo que favorezca la salud. La osteoporosis se caracteriza por una alteración en la cantidad y calidad de la mineralización ósea, lo que origina una fragilidad del esqueleto con riesgo aumentado de fracturas, especialmente vertebrales y de cadera. Es un problema público a nivel mundial, que afecta a una proporción elevada de hombres y mujeres, y que se desarrolla de forma asintomática hasta que se manifiesta de forma imprevista y causa una fractura del esqueleto. Estudios en niños han demostrado que el desarrollo de osteoporosis en la edad adulta puede verse condicionada por el estado nutricional durante la infancia, especialmente en lo referente a los aportes de calcio y vitamina D. No obstante, existen aún muchas cuestiones abiertas, tanto en lo referente a su patogenia y diagnóstico como a su tratamiento; algunas de éstas se revisan en este trabajo
The Absence of Caspase-8 in the Dopaminergic System Leads to Mild Autism-like Behavior
In the last decade, new non-apoptotic roles have been ascribed to apoptotic caspases. This family of proteins plays an important role in the sculpting of the brain in the early stages of development by eliminating excessive and nonfunctional synapses and extra cells. Consequently, impairments in this process can underlie many neurological and mental illnesses. This view is particularly relevant to dopamine because it plays a pleiotropic role in motor control, motivation, and reward processing. In this study, we analyze the effects of the elimination of caspase-8 (CASP8) on the development of catecholaminergic neurons using neurochemical, ultrastructural, and behavioral tests. To do this, we selectively delete the CASP8 gene in cells that express tyrosine hydroxylase with the help of recombination through the Cre-loxP system. Our results show that the number of dopaminergic neurons increases in the substantia nigra. In the striatum, the basal extracellular level of dopamine and potassium-evoked dopamine release decreased significantly in mice lacking CASP8, clearly showing the low dopamine functioning in tissues innervated by this neurotransmitter. This view is supported by electron microscopy analysis of striatal synapses. Interestingly, behavioral analysis demonstrates that mice lacking CASP8 show changes reminiscent of autism spectrum disorders (ASD). Our research reactivates the possible role of dopamine transmission in the pathogenesis of ASD and provides a mild model of autism.Ministerio de Economía y Competitividad RTI2018-098645-B-I00, PID2019-109569GB-I00, RTI2018-099778-B-I00Junta de Andalucía P18-RT-1372, US-1264806, PI-0080-2017, PI-0009-2017, PI-0134-2018, PEMP-0008-2020, P20_00958, CTS-510Instituto de Salud Carlos III PI18/01691Instituto de Investigación e Innovación en Ciencias Biomédicas de Cádiz-INiBICA LI19/06IN-CO22, IN-C09European Union 95568
Long-term effect of 2 intensive statin regimens on treatment and incidence of cardiovascular events in familial hypercholesterolemia : The SAFEHEART study
Funding: This study was supported by Fundación Hipercolesterolemia Familiar; Grant G03/181 Grant 08-2008 Centro Nacional de Investigaci?n Cardiovascular (CNIC).Background: Maximal doses of potent statins are the basement of treatment of familial hypercholesterolemia (FH). Little is known about the use of different statin regimens in FH. Objectives: The objectives of the study were to describe the treatment changes and low-density lipoprotein cholesterol (LDL-C) goal achievement with atorvastatin (ATV) and rosuvastatin (RV) in the SAFEHEART cohort, as well as to analyze the incidence of atherosclerotic cardiovascular events (ACVEs) and changes in the cardiovascular risk. Methods: SAFEHEART is a prospective follow-up nationwide cohort study in a molecularly defined FH population. The patients were contacted on a yearly basis to obtain relevant changes in life habits, medication, and ACVEs. Results: A total of 1939 patients were analyzed. Median follow-up was 6.6 years (5-10). The estimated 10-year risk according the SAFEHEART risk equation was 1.61 (0.67-3.39) and 1.22 (0.54-2.93) at enrollment for ATV and RV, respectively (P <.001). There were no significant differences at the follow-up: 1.29 (0.54-2.82) and 1.22 (0.54-2.76) in the ATV and RV groups, respectively (P =.51). Sixteen percent of patients in primary prevention with ATV and 18% with RV achieved an LDL-C <100 mg/dL and 4% in secondary prevention with ATV and 5% with RV achieved an LDL-C <70 mg/dL. The use of ezetimibe was marginally greater in the RV group. One hundred sixty ACVEs occurred during follow-up, being its incidence rate 1.1 events/100 patient-years in the ATV group and 1.2 in the RV group (P =.58). Conclusion: ATV and RV are 2 high-potency statins widely used in FH. Although the reduction in LDL-C levels was greater with RV than with ATV, the superiority of RV for reducing ACVEs was not demonstrated
REPLY: Answer to the comment of Casas et al. about González Acebrón et al.’s (2011) paper
Depto. de Mineralogía y PetrologíaFac. de Ciencias GeológicasTRUEpu
Orogenias paleozoicas en los Andes de Argentina y Chile y en la Península Antártica
Congreso Geológico Argentino (20º. 2017. San Miguel de Tucumán, Argentina). Simposio de Téctonica pre-andinaDurante el Neoproterozoico y Paleozoico, los Andes de Argentina y Chile, y desde fines del Paleozoico también la Península Antártica, formaron parte del margen SO de Gondwana. Durante este tiempo se acrecionaron a dicho margen varios fragmentos continentales de tamaño y aloctonía variable; denominados de N a S: Antofalla, Chi-Cu, Patagonia Occidental y Antártida Occidental. Estos fragmentos formaban parte de placas litosféricas, en ocasiones divididas en subplacas. La colisión de dichos fragmentos continentales con Gondwana y una última subducción bajo dicho margen, dieron lugar a 6 orogenias de extensión temporal y espacial limitada.Instituto Geológico y Minero de España, EspañaDepartamento de Geología, Universidad de Oviedo, EspañaUniversidad de Río Negro, ArgentinaServicio Geológico y Minero Argentino, ArgentinaInstituto De Bio y Geociencias Del NOA, Consejo Nacional de Investigaciones Científicas y Técnicas, ArgentinaInstituto De Bio y Geociencias Del NOA, Universidad Nacional de Salta, ArgentinaDepartamento de Geodinámica, Universidad del País Vasco, EspañaFacultad de Geología, Universidad de Barcelona, EspañaDepartamento de Geología, Universidad de Chile, ChileUniversidad Andrés Bello, ChileUnidad de Tectónica, Consejo Nacional de Investigaciones Científicas y Técnicas, ArgentinaFacultad de Geología, Universidad de Buenos Aires, ArgentinaÁrea de Geología, Universidad Rey Juan Carlos, EspañaUniversidad de Salta, ArgentinaInstituto de Investigación en Paleobiología y Geología, Universidad de Río Negro, ArgentinaInstituto de Investigación en Paleobiología y Geología, Consejo Nacional de Investigaciones Científicas y Técnicas, ArgentinaCentro de Investigaciones Geológicas, Universidad de La Plata, ArgentinaUniversidad de San Juan, ArgentinaPeer reviewe
Truncating FLNC Mutations Are Associated With High-Risk Dilated and Arrhythmogenic Cardiomyopathies
BACKGROUND: Filamin C (encoded by the FLNC gene) is essential for sarcomere attachment to the plasmatic membrane. FLNC mutations have been associated with myofibrillar myopathies, and cardiac involvement has been reported in some carriers. Accordingly, since 2012, the authors have included FLNC in the genetic screening of patients with inherited cardiomyopathies and sudden death. OBJECTIVES: The aim of this study was to demonstrate the association between truncating mutations in FLNC and the development of high-risk dilated and arrhythmogenic cardiomyopathies. METHODS: FLNC was studied using next-generation sequencing in 2,877 patients with inherited cardiovascular diseases. A characteristic phenotype was identified in probands with truncating mutations in FLNC. Clinical and genetic evaluation of 28 affected families was performed. Localization of filamin C in cardiac tissue was analyzed in patients with truncating FLNC mutations using immunohistochemistry. RESULTS: Twenty-three truncating mutations were identified in 28 probands previously diagnosed with dilated, arrhythmogenic, or restrictive cardiomyopathies. Truncating FLNC mutations were absent in patients with other phenotypes, including 1,078 patients with hypertrophic cardiomyopathy. Fifty-four mutation carriers were identified among 121 screened relatives. The phenotype consisted of left ventricular dilation (68%), systolic dysfunction (46%), and myocardial fibrosis (67%); inferolateral negative T waves and low QRS voltages on electrocardiography (33%); ventricular arrhythmias (82%); and frequent sudden cardiac death (40 cases in 21 of 28 families). Clinical skeletal myopathy was not observed. Penetrance was >97% in carriers older than 40 years. Truncating mutations in FLNC cosegregated with this phenotype with a dominant inheritance pattern (combined logarithm of the odds score: 9.5). Immunohistochemical staining of myocardial tissue showed no abnormal filamin C aggregates in patients with truncating FLNC mutations. CONCLUSIONS: Truncating mutations in FLNC caused an overlapping phenotype of dilated and left-dominant arrhythmogenic cardiomyopathies complicated by frequent premature sudden death. Prompt implantation of a cardiac defibrillator should be considered in affected patients harboring truncating mutations in FLNC.Instituto de Salud Carlos III [PI11/0699, PI14/0967, PI14/01477, RD012/0042/0029, RD012/0042/0049, RD012/0042/0066, RD12/0042/0069]; Spanish Ministry of Economy and Competitiveness [SAF2015-71863-REDT]; Plan Nacional de I+D+I; Plan Estatalde I+D+I, European Regional Development Fund; Health in Code SLS
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