Dr. Remigio Rafael Gorrita Pérez: Paradigm of an integral doctor

Se realiza una síntesis de aspectos de la vida fecunda, con total entrega al magisterio y el quehacer médico, en la especialidad de Pediatría, así como una destacada participación en la cultura, por lo que obtiene reconocimientos en su municipio natal, del Profesor Remigio Rafael Gorrita Pérez, conocido de forma cariñosa por sus colegas y amigos, como ¨Gorrita¨. Desde temprana edad, desarrolla actividades vinculadas al magisterio, estas las combina con una fecunda labor como médico, profesor, investigador y activista cultural, recibe numerosos reconocimientos a lo largo de sus casi 50 años de vida profesional. Este artículo tiene como objetivo presentar la trayectoria relevante de este insigne profesor. Su legado, ha quedado en sus obras y en las enseñanzas brindadas a generaciones de médicos, en San José de las LajasA synthesis of aspects of a fruitful life with total dedication to teaching and medical work, in the specialty of Pediatrics, as well as an outstanding participation in culture, for which he obtains recognition in his native municipality, about Professor Remigio Rafael Gorrita Pérez, affectionately known by his colleagues and friends as ¨Gorrita¨ is carried out. From an early age, he developed activities linked to teaching, which he combined with rich work as a doctor, professor, researcher and cultural activist. He received numerous recognitions throughout his almost 50 years of professional life. This article aims to present the relevant career of this distinguished professor. His legacy has remained in his works and in the teachings given to generations of doctors in San José de las Lajas

Germline ATM mutational analysis in BRCA1/BRCA2 negative hereditary breast cancer families by MALDI-TOF mass spectrometry

Biallelic inactivation of ATM gene causes the rare autosomal recessive disorder Ataxia-telangiectasia (A-T). Female relatives of A-T patients have a two-fold higher risk of developing breast cancer (BC) compared with the general population. ATM mutation carrier identification is laborious and expensive, therefore, a more rapid and directed strategy for ATM mutation profiling is needed. We designed a case-control study to determine the prevalence of 32 known ATM mutations causing A-T in Spanish population in 323 BRCA1/BRCA2 negative hereditary breast cancer (HBC) cases and 625 matched Spanish controls. For the detection of the 32 ATM mutations we used the matrix-assisted laser desorption/ionization time-of-flight mass spectrometry technique. We identified one patient carrier of the c.8264_8268delATAAG ATM mutation. This mutation was not found in the 625 controls. These results suggest a low frequency of these 32 A-T causing mutations in the HBC cases in our population. Further case-control studies analyzing the entire coding and flanking sequences of the ATM gene are warranted in Spanish BC patients to know its implication in BC predisposition

Instruments for assessing the risk of falls in acute hospitalized patients: a systematic review and meta-analysis

Background Falls are a serious problem for hospitalized patients, reducing the duration and quality of life. It is estimated that over 84% of all adverse events in hospitalized patients are related to falls. Some fall risk assessment tools have been developed and tested in environments other than those for which they were developed with serious validity discrepancies. The aim of this review is to determine the accuracy of instruments for detecting fall risk and predicting falls in acute hospitalized patients. Methods Systematic review and meta-analysis. Main databases, related websites and grey literature were searched. Two blinded reviewers evaluated title and abstracts of the selected articles and, if they met inclusion criteria, methodological quality was assessed in a new blinded process. Meta-analyses of diagnostic ORs (DOR) and likelihood (LH) coefficients were performed with the random effects method. Forest plots were calculated for sensitivity and specificity, DOR and LH. Additionally, summary ROC (SROC) curves were calculated for every analysis. Results Fourteen studies were selected for the review. The meta-analysis was performed with the Morse (MFS), STRATIFY and Hendrich II Fall Risk Model scales. The STRATIFY tool provided greater diagnostic validity, with a DOR value of 7.64 (4.86 - 12.00). A meta-regression was performed to assess the effect of average patient age over 65 years and the performance or otherwise of risk reassessments during the patient’s stay. The reassessment showed a significant reduction in the DOR on the MFS (rDOR 0.75, 95% CI: 0.64 - 0.89, p = 0.017). Conclusions The STRATIFY scale was found to be the best tool for assessing the risk of falls by hospitalized acutely-ill adults. However, the behaviour of these instruments varies considerably depending on the population and the environment, and so their operation should be tested prior to implementation. Further studies are needed to investigate the effect of the reassessment of these instruments with respect to hospitalized adult patients, and to consider the real compliance by healthcare personnel with procedures related to patient safety, and in particular concerning the prevention of falls

Neuropathological Characterization of a Dravet Syndrome Knock-In Mouse Model Useful for Investigating Cannabinoid Treatments

Dravet syndrome (DS) is an epileptic syndrome caused by mutations in the Scn1a gene encoding the alpha 1 subunit of the sodium channel Nav1.1, which is associated with febrile seizures that progress to severe tonic-clonic seizures and associated comorbidities. Treatment with cannabidiol has been approved to reduce seizures in DS, but it may also be active against these comorbidities. The aim of this study was to validate a new mouse model of DS having lower mortality than previous models, which may serve to further evaluate therapies for the long-term comorbidities. This new model consists of heterozygous conditional knock-in mice carrying a missense mutation (A1783V) in Scn1a gene expressed exclusively in neurons of the CNS (Syn-Cre/Scn1a(WT/A1783V)). These mice have been used here to determine the extent and persistence of the behavioral deterioration in different postnatal days (PND), as well as to investigate the alterations that the disease produces in the endocannabinoid system and the contribution of inflammatory events and impaired neurogenesis in the pathology. Syn-Cre/Scn1a(WT/A1783V) mice showed a strong reduction in hindlimb grasp reflex at PND10, whereas at PND25, they presented spontaneous convulsions and a greater susceptibility to pentylenetetrazole-induced seizures, marked hyperactivity, deficient spatial working memory, lower levels of anxiety, and altered social interaction behavior. These differences disappeared at PND40 and PND60, except the changes in social interaction and anxiety. The analysis of CNS structures associated with these behavioral alterations revealed an elevated glial reactivity in the prefrontal cortex and the dentate gyrus. This was associated in the dentate gyrus with a greater cell proliferation detected with Ki67 immunostaining, whereas double-labeling analyses identified that proliferating cells were GFAP-positive suggesting failed neurogenesis but astrocyte proliferation. The analysis of the endocannabinoid system of Syn-Cre/Scn1a(WT/A1783V) mice confirmed reductions in CB1 receptors and MAGL and FAAH enzymes, mainly in the cerebellum but also in other areas, whereas CB2 receptors became upregulated in the hippocampus. In conclusion, Syn-Cre/Scn1a(WT/A1783V) mice showed seizuring susceptibility and several comorbidities (hyperactivity, memory impairment, less anxiety, and altered social behavior), which exhibited a pattern of age expression similar to DS patients. Syn-Cre/Scn1a(WT/A1783V) mice also exhibited greater glial reactivity and a reactive response in the neurogenic niche, and regional changes in the status of the endocannabinoid signaling, events that could contribute in behavioral impairmentThis work was supported by grants from CIBERNED (CB06/05/0089) and MICIU (RTI2018-098885-B-100) to JF-R, Proyectos de Investigacion en Salud, Instituto de Salud Carlos III (PI20/00773) to OS, and Spanish Ministry of Economy and Competitiveness (MINECO; SAF-2015-70866-R, with FEDER Funds) to JE. These agencies had no further role in study design, collection, analysis and interpretation of the data, in the writing of the report, or in the decision to submit the paper for publication. CA is a predoctoral fellow supported by the FPU-Programme (FPU16/04768). The authors are indebted to Yolanda Garcia-Movellan for administrative assistanc

Pesquisa de cáncer colorrectal en pacientes con sangre oculta en heces fecales

Introducción: El cáncer colorrectal constituye un problema de salud de gran magnitud, tanto a nivel mundial como en Cuba, donde ocupa uno de los primeros lugares entre las principales causas de muerte. Existe consenso mundial en el uso de la determinación de sangre oculta en heces fecales, para la pesquisa de cáncer de colon. Objetivo: Identificar la presencia de cáncer colorrectal en pacientes hallados positivos, en el analisis de sangre oculta de las heces fecales, estudiados en el Servicio de Gastroenterología del Hospital Universitario "General Calixto García". Métodos: Se realizó un estudio descriptivo, de corte transversal en pacientes con sangre oculta en heces fecales postiva atendidos en el Servicio de Gastroenterología del Hospital Universitario "General Calixto García", durante el periodo de enero del 2019 a enero del 2020. Se trabajó con la totalidad del universo conformado por 86 pacientes. Se utilizó estadística descriptiva. Resultados: Predominaron los pacientes mayores de cincuenta aqos, asintomáticos, del sexo femenino, con ausencia de hábitos tóxicos, de antecedentes patológicos personales, familiares y de alteraciones ultrasonográficas. El hallazgo colonoscópico más frecuente fue el tumor de colon en el 18,60 %, seguido de los adenomas colorrectales en 12,79 %. La localización anatómica de las lesiones premalignas (36,36 %) y del cáncer colorrectal (37,50 %) más frecuentes se encontraron en el sigmoide. La variedad histológica de cáncer colorrectal identificada con mayor frecuencia fue el adenocarcinoma (93,75 %). Conclusiones: La sangre oculta en heces fecales es una prueba de utilidad para la pesquisa de lesiones premalignas y cáncer colorrectal, en pacientes asintomáticos y con estudios de imagen sin alteraciones, pero no sustituye a otros procedimientos diagnósticos como la colonoscopia o la radiografía de colon por enema

Website. The values education and the educative work

La formación y consolidación de valores constituye una necesidad insoslayable de la construcción del socialismo, fundamentalmente en la juventud, por lo que se hace imprescindible el desarrollo de valores morales en estudiantes de la educación superior y enseñanza técnica profesional. El presente trabajo tiene como objetivo elaborar una página web, que integre los elementos esenciales de la educación en valores, de forma concisa, resumida, didáctica y actualizada; para elevar el nivel cognoscitivo de los estudiantes y para su preparación en la vida profesional y social, además constituye un medio de consulta para los profesores guías y tutores. Se realizó un estudio observacional, descriptivo de los modos de actuación de los estudiantes en todos los escenarios docentes, TRD y en las actividades extensionistas. La página web propuesta permitió que aumentara el nivel de conocimientos de estudiantes y profesores acerca de los valores, definiciones y modos de actuación asociados a cada valor. La página web propuesta: “VALORES CON QUE DEFENDEMOS LA REVOLUCIÓN Y LA ESPECIE HUMANA”: surge y se sustenta en la concepción de la enseñanza y consolidación de los valores, con un enfoque histórico-cultural favorece la educación, el desarrollo y consolidación de los valores.The formation and consolidation of values is an undeniable need for the construction of socialism, primarily in youth, so it is essential the development of moral values in students of superior education and in technical professional teaching. This paper aims to develop a website that integrates the essential elements of values education, concisely summarized, didactic and updated; to increase the cognitive level of the students and their preparation in professional and social life, besides it is a means of consultation for guide teachers and tutors. It was performed an observational, descriptive study of the students behavior in every school, TRD and extension activities. The website proposal increased the level of knowledge in students and teachers in regards to the values, definitions and behaviors associated with each value. The website proposal "VALUES TO DEFEND THE REVOLUTION AND THE HUMAN BEING": arises and supports the concept of teaching and consolidation of values; with a historical-cultural approach it promotes education, development and consolidation of values

Effectiveness of the combination elvitegravir/cobicistat/tenofovir/emtricitabine (EVG/COB/TFV/FTC) plus darunavir among treatment-experienced patients in clinical practice: A multicentre cohort study

Background: The aim of this study was to investigate the effectiveness and tolerability of the combination elvitegravir/cobicistat/tenofovir/emtricitabine plus darunavir (EVG/COB/TFV/FTC + DRV) in treatment-experienced patients from the cohort of the Spanish HIV/AIDS Research Network (CoRIS). Methods: Treatment-experienced patients starting treatment with EVG/COB/TFV/FTC + DRV during the years 2014-2018 and with more than 24 weeks of follow-up were included. TFV could be administered either as tenofovir disoproxil fumarate or tenofovir alafenamide. We evaluated virological response, defined as viral load (VL) < 50 copies/ml and < 200 copies/ml at 24 and 48 weeks after starting this regimen, stratified by baseline VL (< 50 or ≥ 50 copies/ml at the start of the regimen). Results: We included 39 patients (12.8% women). At baseline, 10 (25.6%) patients had VL < 50 copies/ml and 29 (74.4%) had ≥ 50 copies/ml. Among patients with baseline VL < 50 copies/ml, 85.7% and 80.0% had VL < 50 copies/ml at 24 and 48 weeks, respectively, and 100% had VL < 200 copies/ml at 24 and 48 weeks. Among patients with baseline VL ≥ 50 copies/ml, 42.3% and 40.9% had VL < 50 copies/ml and 69.2% and 68.2% had VL < 200 copies/ml at 24 and 48 weeks. During the first 48 weeks, no patients changed their treatment due to toxicity, and 4 patients (all with baseline VL ≥ 50 copies/ml) changed due to virological failure. Conclusions: EVG/COB/TFV/FTC + DRV was well tolerated and effective in treatment-experienced patients with undetectable viral load as a simplification strategy, allowing once-daily, two-pill regimen with three antiretroviral drug classes. Effectiveness was low in patients with detectable viral loads.The RIS cohort (CoRIS) is supported by the Instituto de Salud Carlos III through the Red Temática de Investigación Cooperativa en Sida (RD06/006, RD12/0017/0018 and RD16/0002/0006) as part of the Plan Nacional I + D + i and cofinanced by ISCIII-Subdirección General de Evaluación and the Fondo Europeo de Desarrollo Regional (FEDER)”

Baseline residual kidney function and its ensuing rate of decline interact to predict mortality of peritoneal dialysis patients

Background Baseline residual kidney function (RKF) and its rate of decline during follow-up are purported to be reliable outcome predictors of patients undergoing Peritoneal Dialysis (PD). The independent contribution of each of these factors has not been elucidated. Method We report a multicenter, longitudinal study of 493 patients incident on PD and satisfying two conditions: a glomerular filtration rate (GFR) 1 mL/minute and a daily diuresis 300 mL. The main variables were the GFR (mean of urea and creatinine clearances) at PD inception and the GFR rate of decline during follow-up. The main outcome variable was patient mortality. The secondary outcome variables were: PD technique failure and risk of peritoneal infection. The statistical analysis was based on a multivariate approach, placing an emphasis on the interactions between the two main study variables

Ozone Therapy for Tumor Oxygenation: a Pilot Study

Tumor hypoxia is an adverse factor for chemotherapy and radiotherapy. Ozone therapy is a non-conventional form of medicine that has been used successfully in the treatment of ischemic disorders. This prospective study was designed to assess the effect of ozone therapy on tumor oxygenation. Eighteen subjects were recruited for the study. Systemic ozone therapy was administered by autohemotransfusion on three alternate days over one week. Tumor oxygenation levels were measured using polarographic needle probes before and after the first and the third ozone therapy session. Overall, no statistically significant change was observed in the tumor oxygenation in the 18 patients. However, a significant decrease was observed in hypoxic values ≤10 and ≤5 mmHg of pO(2). When individually assessed, a significant and inverse non-linear correlation was observed between increase in oxygenation and the initial tumor pO(2) values at each measuring time-point, thus indicating that the more poorly-oxygenated tumors benefited most (rho = −0.725; P = 0.001). Additionally, the effect of ozone therapy was found to be lower in patients with higher hemoglobin concentrations (rho = −0.531; P < 0.034). Despite being administered over a very short period, ozone therapy improved oxygenation in the most hypoxic tumors. Ozone therapy as adjuvant in chemo-radiotherapy warrants further research