Intellectual disability and ageing: a new challenge for the twenty-first century

[Resumen] OBJETIVO: Mediante el presente trabajo se pretende conocer las características de la población con retraso mental que ha supera- do la edad de 45 años. MÉTODO: Estudio descriptivo de carácter transversal, entre una muestra representativa de 189 personas mayores de 45 años, con certificado de minusvalía que acredite la discapacidad psíquica, seleccionadas aleatoriamente entre las institucionalizadas en los centros de la comunidad autónoma gallega. La herramienta para recoger la información ha sido un cuestionario de elaboración propia, debidamente contrastado. RESULTADOS: El 60% de los entrevistados reside con sus familias, con las que mantienen una relación calificada como buena en el 49,7% de los casos. El 48,7% presenta un coeficiente intelectual con un retraso moderado, y profundo en el 36,5%; no se conoce el origen del retraso mental en el 42,85% de los casos. CONCLUSIONES: Las necesidades detectadas en la calidad asistencial llevan a concluir la urgencia de actuar sobre los recursos, equipamientos y el grado de especialización de los profesionales implicados, sin obviar a las familias, que constituyen el verdadero soporte asistencial.[Abstract] OBJECTIVE: The aim of this study was to determine the characteristics of adults with intellectual disability who survive for more than45 years. METHODS: We performed a cross-sectional, descriptive study of a representative sample of 189 individuals aged more than 45 years with certified intellectual disability. The subjects were randomly selected from individuals attending centres of the Autonomous Community of Galicia in Spain. The instrument used to gather information was a specifically-designed and validated questionnaire. RESULTS: Sixty percent of subjects lived with their families, with whom 49.7% reported a good relationship. The degree of intellectual disability was moderate in 49.7% and severe in 36.5%. Aetiology was unknown in 42.5%. CONCLUSIONS: Shortfalls detected in the quality of care indicate that urgent action should be taken to improve resources and the degree of specialisation among staff, as well as to aid families, who provide the main support to individuals with mental disability

DERIVE and Linear Algebra

This work describes an experience with a methodology for learning based on competences in Linear Algebra for engineering students. The experience has been based in autonomous team work of students. DERIVE tutorials for Linear Algebra topics are provided to the students. They have to work with the tutorials as their homework. After, worksheets with exercises have been prepared to be solved by the students organized in teams, using DERIVE function previously defined in the tutorials. The students send to the instructor the solution of the proposed exercises and they fill a survey with their impressions about the following items: ease of use of the files, usefulness of the tutorials for understanding the mathematical topics and the time spent in the experience. As a final work, we have designed an activity directed to the interested students. They have to prepare a project, related with a real problem in Science and Engineering. The students are free to choose the topic and to develop it but they have to use DERIVE in the solution. Obviously they are guided by the instructor. Some examples of activities related with Orthogonal Transformations will be presented

Foveal avascular zone and choroidal thickness are decreased in subjects with hard drusen and without high genetic risk of developing Alzheimer’s disease

A family history (FH+) of Alzheimer’s disease (AD) and ɛ4 allele of the ApoE gene are the main genetic risk factors for developing AD, whereas ɛ4 allele plays a protective role in age-related macular degeneration. Ocular vascular changes have been reported in both pathologies. We analyzed the choroidal thickness using optical coherence tomography (OCT) and the foveal avascular zone (FAZ) using OCT-angiography and compared the results with ApoE gene expression, AD FH+, and the presence or absence of hard drusen (HD) in 184 cognitively healthy subjects. Choroidal thickness was statistically significantly different in the (FH−, ɛ4−, HD+) group compared with (i) both the (FH−, ɛ4−, HD−) and the (FH+, ɛ4+, HD+) groups in the superior and inferior points at 1500 μm, and (ii) the (FH+, ɛ4−, HD+) group in the superior point at 1500 μm. There were statistically significant differences in the superficial FAZ between the (FH+, ɛ4−, HD+) group and (i) the (FH+, ɛ4−, HD−) group and (ii) the (FH+, ɛ4+, HD−) group. In conclusion, ocular vascular changes are not yet evident in participants with a genetic risk of developing AD

The stellar population of the star forming region G61.48+0.09

- Context: We present the results of a near-infrared photometric and spectroscopic study of the star forming region G61.48+0.09. - Aims: The purpose of this study is to characterize the stellar content of the cluster and to determine its distance, extinction, age and mass. - Methods: The stellar population was studied by using color-magnitude diagrams to select twenty promising cluster members, for which follow up spectroscopy was done. The observed spectra allowed a spectral classification of the stars. - Results: Two stars have emission lines, twelve are G-type stars, and six are late-O or early-B stars. - Conclusions: The cluster's extinction varies from A_{K_S} = 0.9 to A_{K_S} = 2.6, (or A_{V}~8 to A_{V}~23). G61.48+0.09 is a star forming region located at 2.5+/-0.4 Kpc. The cluster is younger than 10 Myr and has a minimum stellar mass of 1500+/-500 Solar masses. However, the actual total mass of the cluster remains undetermined, as we cannot see its whole stellar content.Comment: 20 pages, 10 figures. Accepted for publication in A&

A genetic variant in the LDLR promoter is responsible for part of the LDL-cholesterol variability in primary hypercholesterolemia

BACKGROUND: GWAS have consistently revealed that LDLR locus variability influences LDL-cholesterol in general population. Severe LDLR mutations are responsible for familial hypercholesterolemia (FH). However, most primary hypercholesterolemias are polygenic diseases. Although Cis-regulatory regions might be the cause of LDL-cholesterol variability; an extensive analysis of the LDLR distal promoter has not yet been performed. We hypothesized that genetic variants in this region are responsible for the LDLR association with LDL-cholesterol found in GWAS. METHODS: Four-hundred seventy-seven unrelated subjects with polygenic hypercholesterolemia (PH) and without causative FH-mutations and 525 normolipemic subjects were selected. A 3103 pb from LDLR (-625 to +2468) was sequenced in 125 subjects with PH. All subjects were genotyped for 4 SNPs (rs17242346, rs17242739, rs17248720 and rs17249120) predicted to be potentially involved in transcription regulation by in silico analysis. EMSA and luciferase assays were carried out for the rs17248720 variant. Multivariable linear regression analysis using LDL-cholesterol levels as the dependent variable were done in order to find out the variables that were independently associated with LDL-cholesterol. RESULTS: The sequencing of the 125 PH subjects did not show variants with minor allele frequency ≥ 10%. The T-allele from g.3131C > T (rs17248720) had frequencies of 9% (PH) and 16.4% (normolipemic), p < 0.00001. Studies of this variant with EMSA and luciferase assays showed a higher affinity for transcription factors and an increase of 2.5 times in LDLR transcriptional activity (T-allele vs C-allele). At multivariate analysis, this polymorphism with the lipoprotein(a) and age explained ≈ 10% of LDL-cholesterol variability. CONCLUSION: Our results suggest that the T-allele at the g.3131 T > C SNP is associated with LDL-cholesterol levels, and explains part of the LDL-cholesterol variability. As a plausible cause, the T-allele produces an increase in LDLR transcriptional activity and lower LDL-cholesterol levels

LEED-IV study of the rutile TiO2(110)-1x2 surface with a Ti-interstitial added-row reconstruction

4 pages, 2 figures, 1 table.-- PACS nrs.: 61.14.Hg; 68.35.Bs; 68.47.Gh.Upon sputtering and annealing in UHV at 1000 K the rutile TiO2(110) surface undergoes a 1x1 --> 1x2 phase transition. The resulting 1x2 surface is Ti rich, formed by strands of double Ti rows as seen on scanning tunneling microscopic images, but its detailed structure and composition have been subject to debate in the literature for years. Recently, Park et al. [Phys. Rev. Lett. 96 226105 (2006)] have proposed a model where Ti atoms are located on interstitial sites with Ti2O stoichiometry. This model, when it is analyzed using LEED-IV data [Phys. Rev. Lett. 96 0055502 (2006)] does not yield an agreement between theory and experiment as good as the previous best fit for Onishi and Iwasawa's model for the long-range 1x2 reconstruction. Therefore, the Ti2O3 added row is the preferred one from the point of view of low-energy electron diffraction.This work has been financed by the CYCIT (Grant No. MAT-2005-3866). M.B.R. acknowledges Spanish CSIC for financial support through I3P program. The Barcelona Supercomputer Center (http://www.bsc.es/) is acknowledged for computing time.Peer reviewe

BBB opening with focused ultrasound in nonhuman primates and Parkinson’s disease patients: Targeted AAV vector delivery and PET imaging

血液脳関門開放術による遺伝子治療法の開発 --身体を傷つけない脳疾患の治療を目指して--. 京都大学プレスリリース. 2023-04-20.Intracerebral vector delivery in nonhuman primates has been a major challenge. We report successful blood-brain barrier opening and focal delivery of adeno-associated virus serotype 9 vectors into brain regions involved in Parkinson’s disease using low-intensity focus ultrasound in adult macaque monkeys. Openings were well tolerated with generally no associated abnormal magnetic resonance imaging signals. Neuronal green fluorescent protein expression was observed specifically in regions with confirmed blood-brain barrier opening. Similar blood-brain barrier openings were safely demonstrated in three patients with Parkinson’s disease. In these patients and in one monkey, blood-brain barrier opening was followed by 18F-Choline uptake in the putamen and midbrain regions based on positron emission tomography. This indicates focal and cellular binding of molecules that otherwise would not enter the brain parenchyma. The less-invasive nature of this methodology could facilitate focal viral vector delivery for gene therapy and might allow early and repeated interventions to treat neurodegenerative disorders

Wearable Technology for Assessment and Surgical Assistance in Minimally Invasive Surgery

Wearable technology is an emerging field that has the potential to revolutionize healthcare. Advances in sensors, augmented reality devices, the internet of things, and artificial intelligence offer clinically relevant and promising functionalities in the field of surgery. Apart from its well-known benefits for the patient, minimally invasive surgery (MIS) is a technically demanding surgical discipline for the surgeon. In this regard, wearable technology has been used in various fields of application in MIS such as the assessment of the surgeon’s ergonomic conditions, interaction with the patient or the quality of surgical performance, as well as in providing tools for surgical planning and assistance during surgery. The aim of this chapter is to provide an overview based on the scientific literature and our experience regarding the use of wearable technology in MIS, both in experimental and clinical settings

Clustering patterns of physical activity, sedentary and dietary behavior among European adolescents: The HELENA study

<p>Abstract</p> <p>Background</p> <p>Evidence suggests possible synergetic effects of multiple lifestyle behaviors on health risks like obesity and other health outcomes. A better insight in the clustering of those behaviors, could help to identify groups who are at risk in developing chronic diseases. This study examines the prevalence and clustering of physical activity, sedentary and dietary patterns among European adolescents and investigates if the identified clusters could be characterized by socio-demographic factors.</p> <p>Methods</p> <p>The study comprised a total of 2084 adolescents (45.6% male), from eight European cities participating in the HELENA (Healthy Lifestyle in Europe by Nutrition in Adolescence) study. Physical activity and sedentary behavior were measured using self-reported questionnaires and diet quality was assessed based on dietary recall. Based on the results of those three indices, cluster analyses were performed. To identify gender differences and associations with socio-demographic variables, chi-square tests were executed.</p> <p>Results</p> <p>Five stable and meaningful clusters were found. Only 18% of the adolescents showed healthy and 21% unhealthy scores on all three included indices. Males were highly presented in the cluster with high levels of moderate to vigorous physical activity (MVPA) and low quality diets. The clusters with low levels of MVPA and high quality diets comprised more female adolescents. Adolescents with low educated parents had diets of lower quality and spent more time in sedentary activities. In addition, the clusters with high levels of MVPA comprised more adolescents of the younger age category.</p> <p>Conclusion</p> <p>In order to develop effective primary prevention strategies, it would be important to consider multiple health indices when identifying high risk groups.</p