Retinosis pigmentaria en Cuba

A retrospective observational research was conducted during the period 1990-2010 in order to determine the prevalence of retinitis pigmentosa in the Cuban population. The universe consisted of the 5 209 patients with retinitis pigmentosa who were screened and diagnosed by multidisciplinary groups located in the 14 Provincial Retinitis Pigmentosa Centers in the country. Each patient had a general and ophthalmology medical history, according to standards established by the Ministry of Public Health. The information needed to comply with the objectives was obtained from the national registry of patients at the Camilo Cienfuegos International Center of Retinitis Pigmentosa. To analyse the data, the prevalence rates of retinitis pigmentosa per 10 000 inhabitants per year were calculated for each province and for the country. The prevalence rate of the disease in Cuba was analyzed, and its variations in the period from 1990 to 2010. The prevalence rate obtained in 1990 was 1.40 per 10 000 inhabitants. In 2010, the rate was of 4,61 x 10 000, increasing its initial value at 3.21, which represented a 228.5% increase. In the period 1994-2010, there were a total of 2544 new diagnoses, comparing the 2665 patients diagnosed in 1994, for a prevalence of the disease of 1 x 4082, with 5209 patients screened so far in the country, for a current prevalence of the disease in Cuba of 1 x 2164. Results like this support the effectiveness of the multidisciplinary approach and of the family study as a method for the screening and early diagnosis of hereditary and dystrophic diseases of the retina, facilitated by the existence of a national network of centers and the total coverage and accessibility the Cubans have guaranteed with our health care system.Se realizó una investigación observacional y retrospectiva durante el período de 1990-2010 con el objetivo de conocer la prevalencia de la retinosis pigmentaria en la población cubana. El universo de estudio estuvo constituido por los 5 209 pacientes con esta enfermedad que fueron pesquisados y diagnosticados por los grupos multidisciplinarios que radican en los 14 Centros Provinciales de retinosis pigmentaria del país. A cada paciente se le confeccionó una historia clínica oftalmológica y general según las normas establecidas por el Ministerio de Salud Pública; la información necesaria para dar cumplimiento a los objetivos se obtuvo del Registro Nacional de pacientes del Centro Internacional de Retinosis  Pigmentaria “Camilo Cienfuegos”. Para el análisis de la información se calcularon las tasas de prevalencia de retinosis pigmentaria anuales por 10 000 habitantes para cada provincia y el país. Se analizaron las tasas de prevalencia de la enfermedad en Cuba y sus variaciones en el período de 1990 a 2010; la tasa de prevalencia obtenida en 1990 fue de 1,40x10 000 habitantes y en 2010 de 4,61x10 000, se incrementó en 3.21 su valor inicial, que representó un 228.5% de incremento porcentual. En el período de 1994-2010 se realizaron un total de 2 544 nuevos diagnósticos, si se comparan los 2 665 enfermos diagnosticados en 1994, para una prevalencia de la enfermedad de 1x4082, con los 5 209 pacientes pesquisados hasta la fecha en el país, la prevalencia actual de esta enfermedad en Cuba es de 1x2164. Resultados como este (facilitados por la existencia de una red nacional de centros y la accesibilidad y la cobertura totales que los cubanos tienen garantizadas con el Sistema de Salud) avalan la efectividad del abordaje multidisciplinario y del estudio familiar como método de pesquisa y diagnóstico precoz de las enfermedades hereditarias y distróficas de la retina

Caracterización de harinas de tritíceas híbridas

Triticales (x Triticosecale Wittmack) y tricepiros (x Triticosecale Witt. X x Agrotricum A. Camus) se mejoran con la finalidad de obtener cultivares de doble propósito (forraje y grano). Para su utilización en consumo humano, la calidad de las harinas de triticales es frecuentemente evaluada midiendo el diámetro y factor de expansión de las galletitas horneadas. Estos indicadores están fuertemente relacionados al contenido de almidón dañado, proteína y polisacáridos no amiláceos de la harina que determinan sus propiedades de absorción de agua. Se evaluaron 25 líneas experimentales, ocho cultivares de triticale y uno de tricepiro en Santa Rosa, La Pampa, Argentina, durante 2012, mediante análisis de correlación simple y de conglomerados. Se observaron correlaciones positivas entre los valores de la capacidad de retención del solvente agua, carbonato de sodio, ácido láctico y sacarosa, índice de retención de agua alcalina, pentosanos solubles y almidón dañado. La caracterización de las harinas y la separación en grupos según sus propiedades fisicoquímicas permitieron la selección de genotipos con diferentes propiedades funcionales. En el análisis de conglomerados, el cluster 1 agrupó los materiales con mejores características fisicoquímicas de las harinas, lo cual aumenta las posibilidades de su empleo en la alimentación humana.Triticales (x Triticosecale Wittmack) and Tricepiros (x Triticosecale Witt. X x Agrotricum A. Camus) are improved in order to obtain dual-purpose cultivars (forage and grain). In order to use them for human consumption the quality of triticale four is frequently evaluated by measuring the diameter and spread factor of cookies. These indicators are strongly related to the contents of damaged starch, protein and non-starch polysaccharides of four, which determine its water absorption properties. During 2012, twenty-five experimental strains, eight triticale and one tricepiro cultivars were evaluated in Santa Rosa, La Pampa, Argentina by means of simple correlation and cluster analysis. Positive correlations between the values of solvent retention capacity of water, sodium carbonate, lactic acid and sucrose, retention rate of alkaline water, soluble pentosans and damaged starch were observed. The characterization of the tested fours and their differentiation based on their physicochemical properties allowed the selection of genotypes with different functional properties. In the cluster analysis, cluster 1 pooled the materials with the best physicochemical features of four, which increases the possibilities of its use for human consumption.Fil: Castaño, M. N.. Universidad Nacional de La Pampa. Facultad de Agronomía; ArgentinaFil: Ferrari, E. D.. Universidad Nacional de La Pampa. Facultad de Agronomía; ArgentinaFil: Picca, Aurora Maria Teresita. Universidad Nacional de La Pampa. Facultad de Agronomía; ArgentinaFil: Curti, María Isabel. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Ciencias de la Tierra y Ambientales de La Pampa. Universidad Nacional de La Pampa. Facultad de Ciencias Exactas y Naturales. Instituto de Ciencias de la Tierra y Ambientales de La Pampa; ArgentinaFil: Ribotta, Pablo Daniel. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Córdoba. Instituto de Ciencia y Tecnología de Alimentos Córdoba. Universidad Nacional de Córdoba. Facultad de Ciencias Químicas. Instituto de Ciencia y Tecnología de Alimentos Córdoba; Argentina. Universidad Nacional de Córdoba. Secretaría de Ciencia y Tecnología. Instituto Superior de Investigación, Desarrollo y Servicio de Alimentos; ArgentinaFil: Leon, Alberto Edel. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Córdoba. Instituto de Ciencia y Tecnología de Alimentos Córdoba. Universidad Nacional de Córdoba. Facultad de Ciencias Químicas. Instituto de Ciencia y Tecnología de Alimentos Córdoba; ArgentinaFil: Ferreira, V. A.. Universidad Nacional de La Pampa. Facultad de Agronomía; ArgentinaFil: Grassi, E. M.. Universidad Nacional de La Pampa. Facultad de Agronomía; ArgentinaFil: Di Santo, Hernán Elías. Universidad Nacional de La Pampa. Facultad de Agronomía; ArgentinaFil: Castillo, E. A.. Universidad Nacional de La Pampa. Facultad de Agronomía; ArgentinaFil: Paccapelo, Hector Antonio. Universidad Nacional de La Pampa. Facultad de Agronomía; Argentin

Supporting central nervous system neuroprotection and remyelination by specific TLR4 antagonism

ApTOLL is an aptamer specifically designed to antagonize toll-like receptor 4 (TLR4), which is involved in the innate immunity that promotes inflammatory responses in several diseases, including multiple sclerosis (MS). MS is a chronic, immune, demyelinating and neurodegenerative disease of the central nervous system that represents the second most important cause of neurological disability in young adults. The drugs currently available to treat this disease are immunomodulators and, to date, there are no therapeutic remyelinating drugs available to manage MS. In this study, we show that TLR4 is located in post-mortem cortical lesions of MS patients and as a result, we evaluated the effect of its inhibition by ApTOLL in two different animal models of MS, that of experimental autoimmune encephalomyelitis (EAE) and the cuprizone model. ApTOLL administration ameliorated the clinical symptomatology of the affected mice, which was associated with better preservation and restoration of myelin and oligodendrocytes in the demyelinated lesions of these animals. This revealed not only an immunomodulatory but also a remyelinating effect of the treatment with ApTOLL which was corroborated on purified cultures of rodent and adult human oligodendrocyte precursor cells (OPCs). In summary, the molecular nature of ApTOLL and its mechanism of action strongly supports its further study and use in novel strategies to treat MS and eventually, other demyelinating diseases.This work was supported by grant IND2018/BMD-9751 (Programa de Doctorados Industriales, Comunidad de Madrid, Spain), SAF2016-77575-R (Spanish Ministerio de Economía, Industria y Competitividad-MINECO), and the contract for technological support ApTLR2019-PC-MS-001 (AptaTargets, S.L., Spain) to FdC. BF-G is currently hired by Aptatargets S.L., PG-M is hired under PEJ-2020-AI/BMD-18541 de la Comunidad de Madrid, Spain (associated with the youth guarantee fund to FdC), SN had a predoctoral contract from the UCLM and was hired under SAF2012-40023, SAF2016- 77575-R, RD12-0032/0012 and RD16-0015/0019 (Spanish Ministerio de Economía, Industria y Competitividad-MINECO) and IND2018/BMD-9751, YL has been contracted under ReTics and SAF (to FdC). We thank David Segarra and Mª Eugenia Zarabozo (AptaTargets S.L.) for their constant technological support, Laude Garmendia for her indispensable constant help at the animal facility (Instituto Cajal-CSIC), including the extra effort during Covid-19 pandemics, Profs María Ángeles Moro (Centro Nacional de Investigaciones Cardiovasculares Carlos III, Madrid and Universidad Complutense de Madrid, Spain) and Ignacio Lizasoaín (Universidad Complutense de Madrid, Spain) for lending us the TLR4 knockout mice, and the former GNDe member Dr. Carolina MeleroJerez (currently working at JazzPharma, Spain) for the initial training of BF-G on EAE animal model and different techniques at the laboratory. Human samples were supplied by the UK Multiple Sclerosis Tissue Bank, funded by the Multiple Sclerosis Society of Great Britain and Northern Ireland (registered charity 207495).N

Tracheal intubation in traumatic brain injury: a multicentre prospective observational study

Background We aimed to study the associations between pre- and in-hospital tracheal intubation and outcomes in traumatic brain injury (TBI), and whether the association varied according to injury severity. Methods Data from the international prospective pan-European cohort study, Collaborative European NeuroTrauma Effectiveness Research for TBI (CENTER-TBI), were used (n=4509). For prehospital intubation, we excluded self-presenters. For in-hospital intubation, patients whose tracheas were intubated on-scene were excluded. The association between intubation and outcome was analysed with ordinal regression with adjustment for the International Mission for Prognosis and Analysis of Clinical Trials in TBI variables and extracranial injury. We assessed whether the effect of intubation varied by injury severity by testing the added value of an interaction term with likelihood ratio tests. Results In the prehospital analysis, 890/3736 (24%) patients had their tracheas intubated at scene. In the in-hospital analysis, 460/2930 (16%) patients had their tracheas intubated in the emergency department. There was no adjusted overall effect on functional outcome of prehospital intubation (odds ratio=1.01; 95% confidence interval, 0.79–1.28; P=0.96), and the adjusted overall effect of in-hospital intubation was not significant (odds ratio=0.86; 95% confidence interval, 0.65–1.13; P=0.28). However, prehospital intubation was associated with better functional outcome in patients with higher thorax and abdominal Abbreviated Injury Scale scores (P=0.009 and P=0.02, respectively), whereas in-hospital intubation was associated with better outcome in patients with lower Glasgow Coma Scale scores (P=0.01): in-hospital intubation was associated with better functional outcome in patients with Glasgow Coma Scale scores of 10 or lower. Conclusion The benefits and harms of tracheal intubation should be carefully evaluated in patients with TBI to optimise benefit. This study suggests that extracranial injury should influence the decision in the prehospital setting, and level of consciousness in the in-hospital setting. Clinical trial registration NCT02210221

Predictors of Access to Rehabilitation in the Year Following Traumatic Brain Injury : A European Prospective and Multicenter Study

Background Although rehabilitation is beneficial for individuals with traumatic brain injury (TBI), a significant proportion of them do not receive adequate rehabilitation after acute care. Objective Therefore, the goal of this prospective and multicenter study was to investigate predictors of access to rehabilitation in the year following injury in patients with TBI. Methods Data from a large European study (CENTER-TBI), including TBIs of all severities between December 2014 and December 2017 were used (N = 4498 patients). Participants were dichotomized into those who had and those who did not have access to rehabilitation in the year following TBI. Potential predictors included sociodemographic factors, psychoactive substance use, preinjury medical history, injury-related factors, and factors related to medical care, complications, and discharge. Results In the year following traumatic injury, 31.4% of patients received rehabilitation services. Access to rehabilitation was positively and significantly predicted by female sex (odds ratio [OR] = 1.50), increased number of years of education completed (OR = 1.05), living in Northern (OR = 1.62; reference: Western Europe) or Southern Europe (OR = 1.74), lower prehospital Glasgow Coma Scale score (OR = 1.03), higher Injury Severity Score (OR = 1.01), intracranial (OR = 1.33) and extracranial (OR = 1.99) surgery, and extracranial complication (OR = 1.75). On contrast, significant negative predictors were lack of preinjury employment (OR = 0.80), living in Central and Eastern Europe (OR = 0.42), and admission to hospital ward (OR = 0.47; reference: admission to intensive care unit) or direct discharge from emergency room (OR = 0.24). Conclusions Based on these findings, there is an urgent need to implement national and international guidelines and strategies for access to rehabilitation after TBI.Peer reviewe

Health-related quality of life after traumatic brain injury : deriving value sets for the QOLIBRI-OS for Italy, The Netherlands and The United Kingdom

Purpose The Quality of Life after Brain Injury overall scale (QOLIBRI-OS) measures health-related quality of life (HRQoL) after traumatic brain injury (TBI). The aim of this study was to derive value sets for the QOLIBRI-OS in three European countries, which will allow calculation of utility scores for TBI health states. Methods A QOLIBRI-OS value set was derived by using discrete choice experiments (DCEs) and visual analogue scales (VAS) in general population samples from the Netherlands, United Kingdom and Italy. A three-stage procedure was used: (1) A selection of health states, covering the entire spectrum of severity, was defined; (2) General population samples performed the health state valuation task using a web-based survey with three VAS questions and an at random selection of sixteen DCEs; (3) DCEs were analysed using a conditional logistic regression and were then anchored on the VAS data. Utility scores for QOLIBRI-OS health states were generated resulting in estimates for all potential health states. Results The questionnaire was completed by 13,623 respondents. The biggest weight increase for all attributes is seen from "slightly" to "not at all satisfied", resulting in the largest impact on HRQoL. "Not at all satisfied with how brain is working" should receive the greatest weight in utility calculations in all three countries. Conclusion By transforming the QOLIBRI-OS into utility scores, we enabled the application in economic evaluations and in summary measures of population health, which may be used to inform decision-makers on the best interventions and strategies for TBI patients.Peer reviewe

LEGEND-1000 Preconceptual Design Report

We propose the construction of LEGEND-1000, the ton-scale Large Enriched Germanium Experiment for Neutrinoless $\beta \beta$ Decay. This international experiment is designed to answer one of the highest priority questions in fundamental physics. It consists of 1000 kg of Ge detectors enriched to more than 90% in the $^{76}$Ge isotope operated in a liquid argon active shield at a deep underground laboratory. By combining the lowest background levels with the best energy resolution in the field, LEGEND-1000 will perform a quasi-background-free search and can make an unambiguous discovery of neutrinoless double-beta decay with just a handful of counts at the decay $Q$ value. The experiment is designed to probe this decay with a 99.7%-CL discovery sensitivity in the $^{76}$Ge half-life of $1.3\times10^{28}$ years, corresponding to an effective Majorana mass upper limit in the range of 9-21 meV, to cover the inverted-ordering neutrino mass scale with 10 yr of live time

Quality indicators for patients with traumatic brain injury in European intensive care units

Background: The aim of this study is to validate a previously published consensus-based quality indicator set for the management of patients with traumatic brain injury (TBI) at intensive care units (ICUs) in Europe and to study its potential for quality measur

Changing care pathways and between-center practice variations in intensive care for traumatic brain injury across Europe

Purpose: To describe ICU stay, selected management aspects, and outcome of Intensive Care Unit (ICU) patients with traumatic brain injury (TBI) in Europe, and to quantify variation across centers. Methods: This is a prospective observational multicenter study conducted across 18 countries in Europe and Israel. Admission characteristics, clinical data, and outcome were described at patient- and center levels. Between-center variation in the total ICU population was quantified with the median odds ratio (MOR), with correction for case-mix and random variation between centers. Results: A total of 2138 patients were admitted to the ICU, with median age of 49 years; 36% of which were mild TBI (Glasgow Coma Scale; GCS 13–15). Within, 72 h 636 (30%) were discharged and 128 (6%) died. Early deaths and long-stay patients (> 72 h) had more severe injuries based on the GCS and neuroimaging characteristics, compared with short-stay patients. Long-stay patients received more monitoring and were treated at higher intensity, and experienced worse 6-month outcome compared to short-stay patients. Between-center variations were prominent in the proportion of short-stay patients (MOR = 2.3, p < 0.001), use of intracranial pressure (ICP) monitoring (MOR = 2.5, p < 0.001) and aggressive treatme