Enfermedades mitocondriales y biogénesis mitocondrial

Tesis doctoral inédita leída en la Universidad Autónoma de Madrid, Facultad de Medicina, Departamento de Bioquímica. Fecha de lectura: 25 de Julio de 201

What kind of video gamer are you?

Producción CientíficaPurpose.- This paper attempts to understand the extent to which the effect of motivations on purchase intention varies for diverse segments of video gamers (depending on their personality). Design/Methodology.- Information was collected from 511 Spanish video game consumers. Structural equation modeling, clustering, and multi-group analysis were then conducted to compare results between segments of gamers. Findings.- Results show that hedonic, social and mainly addiction motivations lead to purchase intention of game-related products. Moreover, we identify a typology of gamer that gives rise to differences in motivations-purchase intention links: (1) Analysts include individuals who are essentially conscientious, prefer inventive or cognitive and simulation games and whose behavior is more influenced by hedonic and social motivations to play; (2) Socializers comprise individuals who are mainly extrovert and emotionally stable gamers and who prefer sports and strategy games. The motivations to play that affect their purchase intentions are mainly social; and (3) Sentinels include individuals that are unmindful and introvert, prefer inventive, cognitive, sports and simulation games, and whose social motivations drive their purchase intentions. Originality.- There are 2,200 million video gamers around the world, although it is assumed that this vast market is not homogeneous, which has implications for consumer motivations and purchase intention. However, the currently available classifications that address this challenge are rather limited. In this sense, the present paper provides valuable insights into understanding how personality offers a useful variable to segment consumers in the video game industry and how it moderates the effect of motivations on purchase behavior.Ministerio de Economía y Competetitividad (proyecto ECO2017-82107-R)Junta de Castilla y León (proyecto VA112P17

The Path between Personality, Self-Efficacy, and Shopping Regarding Games Apps

Producción CientíficaThe smartphone has made gaming more accessible and desirable for a wider market than ever before. Game apps are one of the most consumed and fastest growing products in the world today. Yet, few studies have thus far explored the implications of games apps consumption from a consumer perspective, addressing the transfer of abilities from one technological field to another. The main purpose of this paper is threefold: to ascertain the role of personality as a determinant of self-efficacy, to establish whether there is a transfer process from self-efficacy in video gaming with apps to online shopping and to analyze the impact of self-efficacy on the online purchase of game-related products. Results show that neuroticism, extraversion, and agreeableness determine the gaming self-efficacy that is transferred to online shopping self-efficacy and finally to the online purchase of game-related products. These insights provide interesting managerial implications that could affect video game marketing.Ministerio de Economía y Competitividad (proyecto ECO2017-82107-R)Fondo europeo de desarrollo regional (proyecto VA112P17)Junta de Castilla y León (proyecto VA112P17

Normocalcemic hyperparathyroidism, what do we know this disease?

La evaluación de pacientes con niveles de PTH persistentemente elevados y concentraciones séricas de calcio dentro de la normalidad es cada vez más frecuente en la práctica clínica habitual. Esta situación se conoce como hiperparatiroidismo normocalcémico, término acuñado por Wills en 1962. Las evidencias existentes sobre su historia natural son escasas y sugieren una amplia heterogeneidad clínica. En esta revisión repasamos los estudios que analizan su etiopatogenia, sus posibles consecuencias clínicas y su evolución. Asimismo destacamos la importancia del diagnóstico diferencial con las causas tanto habituales como poco frecuentes del hiperparatiroidismo secundario. En este sentido, la determinación de los niveles de vitamina D es fundamental. Por último, concluimos que, para definir esta entidad y establecer el seguimiento de estos pacientes, se precisan estudios más amplios y diseñados específicamente con tales fines.The evaluation of patients with persistently elevated PTH levels and normal serum calcium is increasingly common in clinical practice. This situation is known as normocalcemic hyperparathyroidism, a term coined by Wills in 1962. The existing evidence about its natural history is little and suggests a wide clinical heterogeneity. In this paper, we review studies examining its pathogenesis, clinical consequences and evolution. Also, we emphasize the importance of differential diagnosis for the common such as infrequent causes of secondary hyperparathyroidism. So, the determination of vitamin D levels is essential. Finally, we conclude that larger studies are needed to define this entity and setting up monitoring of these patients

Boletín NUESTRA AMÉRICA XXI - Desafíos y alternativas, num.38, Diciembre 2019

Una excelente iniciativa del Grupo de Trabajo Crisis y economía mundial, coordinado por María Josefina Morales y Gabriela Roffinelli

Estudio poblacional sobre el estado de salud y nutrición de habitantes de la ciudad de Mérida, México

Introduction: The Health and Nutrition National Survey (ENSANUT) reports the panorama of the national and state nutritional epidemiology in Mexico. However, there are no reports of the capital cities of the country. The objective of this report was to evaluate the health and nutritional condition in a sample of the population of Merida, Yucatan, Mexico.Material and Methods: Transversal, retrospective and descriptive study that used the methodological and diagnostic guidelines of ENSANUT, WHO and Official Mexican Standards. To know malnutrition, normal weight and overweight prevalence, hypertension probable cases (CPHA) and diabetes mellitus probable cases (CPDM) were determined and anthropometric measurements were performed. SPSS 20.0 and Excel 2013 were used to calculate proportions and the results were expressed in prevalence.Results: 4,324 subjects were evaluated (644 pre-school pupils, 1,881 school pupils, 133 adolescents and 1,666 adults). In adults the prevalence of CPHA and CPDM were 11.8% and 10.2%, respectively. For pre-school pupils the prevalence of low weight, emaciation and low height were 0.4%, 0.7% and 2.7%, respectively. For school pupils, adolescents and adults malnutrition prevalence was 3.3%, 2.2% and 1.2% respectively. The prevalence of normal weight and overweight in pre-school pupils, school pupils, adolescents and adults was 54.6%, 45.5%, 48.1%, 20.7% and 16.1%, 51%, 49.5% y 77.9%, respectively.Conclusions: High prevalence of diabetes mellitus probable cases in men and low prevalence of malnutrition in all ages were observed. The prevalence of overweight in pre-school pupils, school pupils and adolescents was higher than the national and estate average.Introducción: La Encuesta Nacional de Salud y Nutrición (ENSANUT) reporta el panorama actual de la epidemiología nutricional nacional y estatal en México. Sin embargo, no existen reportes nutricionales de las capitales de los estados mexicanos. El presente trabajo tuvo como objetivo evaluar el estado de salud y nutrición en habitantes de Mérida, Yucatán, México.Material y Métodos: Estudio transversal, retrospectivo y descriptivo que utilizó los lineamientos metodológicos y diagnósticos de la ENSANUT, OMS y Normas Oficiales Mexicanas. Se determinaron casos probables de hipertensión arterial sistémica (CPHA), casos probables de diabetes mellitus (CPDM) y se realizaron mediciones antropométricas para establecer prevalencias de desnutrición, normopeso y exceso de peso. Se utilizó SPSS 20.0 y Excel 2013 para calcular proporciones y expresar los resultados en prevalencias.Resultados: Se evaluaron 4.324 sujetos (644 preescolares, 1.881 escolares, 133 adolescentes y 1.666 adultos). En adultos, la prevalencia de CPHA fue 11,8% y la de CPDM 10,2%. En preescolares las prevalencias de bajo peso, emaciación y talla baja fueron 0,4%, 0,7% y 2,7%, respectivamente. En escolares, adolescentes y adultos las prevalencias de desnutrición fueron 3,3%, 2,2% y 1,2%, respectivamente. Las proporciones de normopeso y de exceso de peso en preescolares, escolares, adolescentes y adultos fueron 54,6%, 45,5%, 48,1% y 20,7% y del 16,1%, 51%, 49,5% y 77,9%, respectivamente.Conclusiones: Se evidenciaron altas prevalencias de casos probables de diabetes mellitus en hombres y bajas prevalencias de desnutrición en todas las edades. La proporción de exceso de peso en menores de 20 años fue mayor a lo reportado tanto a nivel nacional como estatal

Liquid biopsy: a non-invasive approach for Hodgkin lymphoma genotyping

The Hodgkin lymphoma (HL) genomic landscape is hardly known due to the scarcity of tumour cells in the tissue. Liquid biopsy employing circulating tumour DNA (ctDNA) can emerge as an alternative tool for non-invasive genotyping. By using a custom next generation sequencing (NGS) panel in combination with unique molecule identifiers, we aimed to identify somatic variants in the ctDNA of 60 HL at diagnosis. A total of 277 variants were detected in 36 of the 49 samples (73·5%) with a good quality ctDNA sample. The median number of variants detected per patient was five (range 1–23) with a median variant allele frequency of 4·2% (0·84–28%). Genotyping revealed somatic variants in the following genes: SOCS1 (28%), IGLL5 (26%), TNFAIP3 (23%), GNA13 (23%), STAT6 (21%) and B2M (19%). Moreover, several poor prognosis features (high LDH, low serum albumin, B-symptoms, IPI ≥ 3 or at an advanced stage) were related to significantly higher amounts of ctDNA. Variant detection in ctDNA by NGS is a feasible approach to depict the genetic features of HL patients at diagnosis. Our data favour the implementation of liquid biopsy genotyping for the routine evaluation of HL patients.This work was partially supported by the Instituto de Salud Carlos III (ISCIII), Spanish Ministry of Economy and Competitiveness CIBERONC-CB16/12/00233, and “Una manera de hacer Europa” (Innocampus; CEI-2010-1-0010)”, the Health Council of the Junta de Castilla y León (GRS2037/A/19) (GRS1845/A/18) and private Gilead (GLD/18/00063). MGA is supported with a grant from the Accelerator consortia (Cancer Research UK; C355/A26819). CJ and AM are supported by the ISCII (CD19/00030 and FI19/00320). MES is supported by Contrato Miguel Servet tipo II (CPII18/00028). MA is financed by CIBER-CB16/12/00233. All Spanish funding is co-sponsored by the European Union FEDER program

Genetic complexity impacts the clinical outcome of follicular lymphoma patients

© The Author(s) 2021.Follicular lymphoma (FL) is the second most common non-Hodgkin lymphoma (NHL, 20–30%) after diffuse large B-cell lymphoma (DLBCL). Despite the introduction of rituximab and the high response rate to first-line treatment, approximately 20% of the FL patients relapse or progress within 2 years of receiving first-line therapy. Therefore, the major challenge is finding biomarkers that identify high-risk patients at diagnosis.This work was partially supported by the Instituto de Salud Carlos III (ISCIII), Spanish Ministry of Economy and Competitiveness PI15/01393, PI18/00410, CIBERONC-CB16/12/00233, and “Una manera de hacer Europa” (Innocampus; CEI-2010-1-0010)”, the Education Council or Health Council of the Junta de Castilla y León (CAS102P17, GRS 1180/A/15), Spanish Association Against Cancer (AECC; PROYE18020BEA), and Gilead Sciences (GLD17/00334). CJ, MES, and AMe are supported by the ISCII (CD19/00030, CPII18/00028, and FI19/00320). MGA, IPC, and CJ were supported by the Spanish Society of Hematology Foundation (FEHH). All Spanish funding is co-sponsored by the European Union FEDER program

Attention deficit/hyperactivity disorde: Study habits

El trastorno por déficit de atención/hiperactividad (TDAH) es uno de los trastornos más prevalentes en la población infanto-juvenil, con un impacto ya conocido sobre el aprendizaje y rendimiento escolar. La falta de atención, la disfunción ejecutiva asociada y los problemas comórbidos –particularmente los relacionados con el aprendizaje y la ansiedad–, condicionan marcadamente este dominio conceptual. Los jóvenes afectos, tienen más problemas para la toma de apuntes, finalización de trabajos, programación escolar y menor motivación al estudio. A pesar de una mayor dedicación al estudio y mayor uso de recursos de apoyo, el fracaso escolar y la no consecución de objetivos curriculares son más frecuentes en estos pacientes. El diagnóstico temprano del TDAH y sus comorbilidades, la intervención psicoeducativa y farmacológica adecuada e individualizada, han demostrado mejorar el pronóstico académico a corto y largo plazo. Para este propósito, es imprescindible la participación activa de profesionales de la salud y la educaciónAttention deficit / hyperactivity disorder (ADHD) is one of the most prevalent disorders in the child-youth population, with a known impact on learning and school performance. Lack of attention, associated executive dysfunction and comorbid problems –particularly those related to learning and anxiety–, strongly determine this conceptual domain. Affected youths have more problems for taking notes, completion of homework, school programming and less motivation to study. Despite greater dedication to homework and greater use of support resources, school failure and nonachievement of curricular objectives are more frequent in these patients. The early diagnosis of ADHD and its comorbidities, the adequate and individualized psychoeducational and pharmacological intervention, have been shown to improve academic prognosis in the short and long term. For this purpose, the active participation of health and education professionals is essential.Este estudio fue financiado por el Ministerio de Economía, Industria y Competitividad (proyecto PSI2017-84922-R