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1.
Data Brief ; 53: 110145, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-38370918

RESUMEN

The MONITOOL project (2017-2023) was carried out to describe the relationships between total dissolved and labile metal concentrations measured in spot water samples and in concurrently deployed Diffusive Gradients in Thin-films (DGTs) passive samplers, respectively. The ultimate aim was to adapt existing marine metal Environmental Quality Standards (EQS marine water) for DGTs, enabling their use in the context of the European Directives (the Water Framework Directive (WFD) and the Marine Strategy Framework Directive (MSFD)). Time-integrated metal concentrations provided by DGTs, representing several days, are an advantage compared to conventional spot sampling, especially in highly dynamic systems, such as transitional waters. Hence, the MONITOOL project aimed to provide a robust database of dissolved and labile metal concentrations in transitional and coastal waters, based upon co-deployments of DGTs and collection of spot water samples at several sampling sites (England, France, Ireland, Italy, Northern Ireland, Portugal, Scotland and Spain), followed subsequently by DGT and water metal analysis. Samplings were carried out in 2018 and 2022, following agreed protocols developed in the framework of the project. The MONITOOL dataset includes metal concentrations from DGTs, measured with Inductively Coupled Plasma Mass Spectrometry (ICP-MS: Cd, Co, Cu, Fe, Mn, Ni, Pb, Zn) and in concurrently collected spot water samples by ICP-MS (Al, Cd, Co, Cu, Mn, Ni, Pb, Zn) and Anodic/Cathodic Stripping Voltammetry (ASV/CSV: Cd, Pb, Ni). Moreover, data on seawater physical-chemical parameters (salinity, temperature, dissolved oxygen, pH, turbidity, total suspended solids, dissolved organic carbon, and total organic carbon) is provided. This database presents the results obtained using, concurrently, different forms of sampling and analytical techniques, enabling the comparison of the results obtained by these strategies and allowing the adaptation of EQS in marine water (EQS marine water) to DGTs (EQS DGT), in the context of the WFD. Moreover, due to the large number of sampling sites, it could also be used for other types of research, such as those dealing with metal speciation or the determination of baseline levels.

2.
BMJ Open ; 13(6): e071265, 2023 06 28.
Artículo en Inglés | MEDLINE | ID: mdl-37380212

RESUMEN

INTRODUCTION: Acute pancreatitis (AP) is the third most common gastrointestinal disease resulting in hospital admission, with over 70% of AP admissions being mild cases. In the USA, it costs 2.5 billion dollars annually. The most common standard management of mild AP (MAP) still is hospital admission. Patients with MAP usually achieve complete recovery in less than a week and the severity predictor scales are reliable. The aim of this study will be to compare three different strategies for the management of MAP. METHODS/DESIGN: This is a randomised, controlled, three-arm multicentre trial. Patients with MAP will be randomly assigned to group A (outpatient), B (home care) or C (hospital admission). The primary endpoint of the trial will be the treatment failure rate of the outpatient/home care management for patients with MAP compared with that of hospitalised patients. The secondary endpoints will be pain relapse, diet intolerance, hospital readmission, hospital length of stay, need for intensive care unit admission, organ failure, complications, costs and patient satisfaction. The general feasibility, safety and quality checks required for high-quality evidence will be adhered to. ETHICS AND DISSEMINATION: The study (version 3.0, 10/2022) has been approved by the Scientific and Research Ethics Committee of the 'Institut d'Investigació Sanitaria Pere Virgili-IISPV' (093/2022). This study will provide evidence as to whether outpatient/home care is similar to usual management of AP. The conclusions of this study will be published in an open-access journal. TRIAL REGISTRATION NUMBER: ClinicalTrials.gov Registry (NCT05360797).


Asunto(s)
Servicios de Atención de Salud a Domicilio , Pancreatitis , Humanos , Pacientes Ambulatorios , Pancreatitis/terapia , Enfermedad Aguda , Hospitales , Ensayos Clínicos Controlados Aleatorios como Asunto , Estudios Multicéntricos como Asunto
3.
Rev.chil.ortop.traumatol. ; 63(2): 93-99, ago.2022. tab, ilus
Artículo en Español | LILACS | ID: biblio-1436088

RESUMEN

OBJETIVO Subrayar la importancia del diagnóstico detallado del dolor y realizar autocrítica por la tardanza diagnóstica de una cervicalgia mecánica. MATERIAL Y MÉTODOS Se presenta una paciente con dolor súbito en el cuello, con radiografías y exploración normales. La resonancia magnética (RM) resultó aparentemente anodina y se trató como cervicalgia mecánica. Tras varias consultas con el Servicio de Urgencias, se realizó una radiografía que informó de anomalía entre las primeras vértebras y se amplió con una tomografía computarizada (TC) que reveló fractura de odontoides y destrucción de la segunda cervical de origen metastásico.RESULTADOS La paciente fue tratada con radioterapia más collarín cervical y varios ciclos de quimioterapia, y falleció a los dos años.DISCUSIÓN Los cánceres que más frecuentemente metastatizan en la columna vertebral son los de mama, pulmón y próstata, siendo las localizaciones más frecuentes la torácica (70%), la lumbar (20%) y, por último, la cervical (10%). Cuando el tumor se descubre como metástasis, como en nuestro caso, estos pacientes tienen una alta tasa de mortalidad. Según nuestro conocimiento, en la literatura hay pocos casos descritos de neoplasias descubiertas como fractura patológica de odontoides. CONCLUSIÓN El dolor cervical no mecánico debido a una metástasis en odontoides, a consecuencia de una neoplasia de pulmón no diagnosticada, es un caso raro en la literatura y de complejo diagnóstico, en que una historia clínica detallada de la evolución del dolor y la presencia de signos de alarma son de vital importancia para su sospecha y rápido diagnóstico, mediante técnicas como la RM.


OBJETIVE To underline the importance of a detailed diagnosis of pain and perform self-criticism regarding the delay in diagnosis of a case of mechanical cervicalgia. MATERIALS AND METHODS We present the case of a patient with sudden neck pain, with normal X-rays. The magnetic resonance imaging (MRI) scan was apparently unremarkable, and the condition was treated as mechanical cervicalgia. After several consultations in the Emergency Department, a new X-ray was performed, which showed an anomaly between the first vertebrae and is accompanied by a computed tomography (CT) scan that revealed a fracture of the odontoid apophysis and destruction of the second cervical vertebra of metastatic origin. RESULTS The patient was treated with radiotherapy plus cervical collar and several cycles of chemotherapy, and died two years later. DISCUSSION The cancers that most frequently metastasize to the spine are those of the breast, lung and prostate, with the most frequent location being thoracic (70%), lumbar (20%), and, finally, cervical (10%). When the tumor is discovered as a metastasis, as in our case, these patients have a high mortality rate. To our knowledge, few cases of neoplasms discovered as pathological fractures of the odontoid apophysis have been described in the literature. CONCLUSION Non-mechanical cervicalgia due to metastasis of the odontoid apophysis as a result of an undiagnosed lung neoplasm is a rare case in the literature and a complex diagnosis, in which a detailed clinical history of the evolution of pain and the presence of red flags are of vital importance for its suspicion and rapid diagnosis, through techniques such as MRI.


Asunto(s)
Humanos , Femenino , Persona de Mediana Edad , Imagen por Resonancia Magnética/métodos , Dolor de Cuello/diagnóstico por imagen , Neoplasias Pulmonares/diagnóstico por imagen , Carcinoma , Metástasis de la Neoplasia
4.
Rev. colomb. ortop. traumatol ; 36(1): 55-59, 2022. ilus.
Artículo en Español | LILACS, COLNAL | ID: biblio-1378811

RESUMEN

La tortícolis es una contractura involuntaria unilateral del esternocleidomastoideo y de la musculatura posterior del cuello que causa la inclinación de la cabeza hacia un lado. Se han descrito múltiples causas de torticolis siendo una de ellas la subluxación atloaxoidea atraumática asociada a un proceso de carácter inflamatorio en la región de cabeza y cuello, llamada síndrome de Grisel. Aunque la mayoría de los pacientes suelen recuperarse sin secuelas tras tratamiento médico existe la posibilidad de complicaciones graves con déficits funcionales, de ahí la importancia de la realización de un diagnóstico y tratamiento precoz.


Torticollis is an unilateral involuntary contracture of the sternocleidomastoid and posterior neck musculature that causes the head tilts to the one side. Multiple causes of torticolis have been described, one of them being the non-traumatic rotatory subluxation of the atlantoaxial joint associated with an inflammatory process in the head and neck region, called Grisel's syndrome. Although most patients usually recover without sequels after medical treatment, there is the possibility of serious complications with functional deficits, that is why the importance of an early diagnosis and treatment of this potology.


Asunto(s)
Humanos , Tortícolis , Articulación Atlantoaxoidea , Atlas Cervical , Vértebra Cervical Axis
5.
J Clin Periodontol ; 47(12): 1511-1521, 2020 12.
Artículo en Inglés | MEDLINE | ID: mdl-32997836

RESUMEN

AIM: This randomized controlled trial aimed to assess the efficacy of a two-stage crown lengthening intervention (SCL) in the aesthetic zone compared with a one-stage crown lengthening procedure (CCL). MATERIALS AND METHODS: Thirty subjects were randomly assigned to either SCL (n = 15) or CCL (n = 15) groups. SCL consisted of full-thickness flaps followed by bone recontouring and gingivectomy 4 months postoperatively, if required. In CCL, osseous recontouring after submarginal incisions was performed, followed by flap repositioning. Records were obtained at baseline, 4 months (only in SCL), 6 months and 12 months. Primary outcome was the precision in achieving a pre-determined gingival margin position. Other outcomes considered were changes in the gingival margin position and keratinized tissue width (KTW) at 12 months, and patient-reported outcomes (PROMs). RESULTS: Surgical precision was comparable between groups (0.2 ± 0.4 mm in the CCL group and -0.2 ± 0.5 mm in the SCL group). Four patients in the SCL group (27.7%) did not require a second-stage surgery. KTW was significantly higher in the SCL group (6.3 ± 1.4 mm versus 5.0 ± 1.4 mm, p = 0.017). SCL resulted in a lower impact on quality of life when compared to the CCL group. CONCLUSIONS: Both approaches were highly accurate obtaining the desired crown length. SCL was associated with a lower reduction in KTW and more favourable oral health-related quality of life (OHIP-14).


Asunto(s)
Alargamiento de Corona , Calidad de Vida , Coronas , Estética Dental , Humanos , Corona del Diente
6.
Artículo en Inglés | LILACS | ID: biblio-1177643

RESUMEN

A simultaneous double dislocation (both proximal [PIP] and distal [DIP] interphalangeal joints) of a triphalangeal finger is a rare entity. The most common hand affected is the right hand. In the case of a closed triple dislocation (metacarpophalangeal [MCP], PIP and DIP joints); there are only two cases in the literature revised. In this case, we report an open triple dislocation in the index finger of the left-hand of a 54-year-old man treated by closed reduction and 3 weeks of immobilization followed by active mobilization with satisfactory results.


La luxación simultánea de las articulaciones interfalángicas proximal (IFP) y distal (IFD) de un dedo de tres articulaciones es una rara entidad. La mano que es afectada con más frecuencia es la derecha. Con relación a una triple luxación cerrada (articulación metacarpofalángica [MCF], IFP e IFD), sólo hay descritos dos casos en la literatura revisada. En este caso, describimos una triple luxación abierta del segundo dedo de la mano en un varón de 54 años de edad tratada mediante reducción cerrada,e inmovilización durante 3 semanas seguida de movilización activa supervisada, con resultado final satisfactorio.


Asunto(s)
Humanos , Masculino , Persona de Mediana Edad , Heridas y Lesiones/complicaciones , Luxaciones Articulares/cirugía , Luxaciones Articulares/etiología , Traumatismos de los Dedos/cirugía , Traumatismos de los Dedos/etiología , Reducción Cerrada/métodos , Luxaciones Articulares/diagnóstico por imagen , Traumatismos de los Dedos/diagnóstico por imagen , Articulaciones de los Dedos , Inmovilización
7.
Talanta ; 188: 600-605, 2018 Oct 01.
Artículo en Inglés | MEDLINE | ID: mdl-30029419

RESUMEN

Sodium in vacuum gas oils (VGOs), even at trace levels, produces corrosion by-products in the refinery pipelines and it is a significant catalyst poison, especially for those from atmospheric or vacuum distillation units, thus its concentration in middle-distillate petroleum products needs to be controlled. In addition, sodium contamination was an issue in this study, as sodium might be present even in the dust floating in the air. The use of an ultrapure sodium-free water and the disposal of a clean and dust-free room were the key to be successful on the development of this method. Different sample preparation methods were studied as sample preparation optimisation was an important step in this study. Dry ashing by different processes, wet acid digestion with different acid mixtures, wet acid microwave-assisted digestion, and dilution with a proper solvent were tried to find the appropriate sample preparation method. An accurate and precise method for the determination of sodium in vacuum gas oils (VGOs) by ICP-OES at trace levels has been developed by ashing the sample with a new piece of equipment designed and created by the Instituto de Tecnología Cerámica (ITC), that permits to calcine the sample in one hour and avoids analyte losses or analyte contamination. The quantification limit achieved by the whole sodium determination method is lower than 1 mg kg-1, which allows it to be used as control method in the petrochemical industry.

8.
Rev. Rol enferm ; 40(9): 592-599, sept. 2017. tab
Artículo en Español | IBECS | ID: ibc-165954

RESUMEN

La práctica reflexiva constituye un método educativo de cambio destinado a desarrollar las competencias profesionales del estudiante de enfermería. El proceso parte de la capacidad autocrítica, del reconocimiento de las potencialidades y limitaciones, del fomento de la responsabilidad y del crecimiento personal. Sin embargo, los cambios obtenidos tras ese proceso formativo pueden no mantenerse en la etapa profesional. El objetivo principal de este estudio fue explorar el significado que las enfermeras atribuían al proceso educativo, a lo largo de su formación universitaria, de adquisición de competencias relacionales mediante la práctica reflexiva y a su mantenimiento posterior. Desde una aproximación fenomenológica se entrevistó a dieciséis enfermeras que habían adquirido competencias relacionales a través de la práctica reflexiva. Del análisis de los datos resultó un dominio central que se denominó «espíritu del prácticum» y cinco núcleos temáticos: aprendizaje profesional, prejuicios y dificultades personales, características y desarrollo de la profesión, crecimiento personal y profesional, y evolución hacia la profesionalidad. La transformación y el cambio experimentados durante el prácticum se mantuvieron en el tiempo y se transfirieron a la práctica profesional en ámbitos de enfermería distintos a la salud mental. Junto con la voluntad de transferir las competencias adquiridas, los resultados revelaron dificultades asociadas a las condiciones laborales y la necesidad de un mayor soporte externo y formación continuada. Si bien este estudio evidencia la importancia de la práctica reflexiva como método educativo para la adquisición de competencias profesionales, se considera necesaria una mayor indagación sobre todo respecto a su uso en etapas profesionales de postgrado (AU)


Reflective practice is an educational method of change aimed at developing the professional skills of nursing students. The objective is to enhance the capacity of selfcriticism, recognition of potential limitations, and the promotion of responsibility and personal growth. However, skills obtained by students after a training process based on reflective practice may be hard to maintain during the professional stage. The main objective of this study is to explore the meaning that nurses attributed to training received throughout their university education, regarding the acquisition of relational skills through reflective practice and subsequent maintenance. 16 nurses who had acquired relational skills through reflective practice were interviewed from a phenomenological approach. Analysis of the data revealed a central domain that we named as Spirit of the Practicum along with five themes: professional learning, prejudices and personal difficulties, characteristics and development of the profession, personal and professional growth and development towards professionalism. Transformation and change experienced during the Practicum remained in time and were transferred to professional practice in different areas of mental health nursing. Besides the will to transfer the skills acquired, results revealed difficulties associated with working conditions and the need for greater external support and lifelong learning. While this study shows the importance of reflective practice as an educational method for the acquisition of professional skills, further inquiry regarding its use in professional graduate stages is especially necessary (AU)


Asunto(s)
Humanos , Competencia Profesional/normas , Educación en Enfermería , Educación en Enfermería/organización & administración , Enfermería Psiquiátrica/educación , Estigma Social , Entrevistas como Asunto , Profesionalismo/normas , Enfermería Psiquiátrica/organización & administración , Enfermería Psiquiátrica/normas , Aptitud
9.
J Clin Periodontol ; 44(7): 708-716, 2017 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-28556062

RESUMEN

AIM: To evaluate the efficacy of a probiotic combination in the treatment of gingivitis and to assess its impact on the subgingival microbiota. MATERIALS AND METHODS: A placebo-controlled clinical trial was conducted in gingivitis subjects during 6 weeks. Test treatment consisted of the administration of two oral tablets per day containing the probiotic strains Lactobacillus plantarum, Lactobacillus brevis and Pediococcus acidilactici; the control group received the same tablets but without live bacteria. The main outcome variable was the changes in gingival index (GI). Subgingival samples were collected and analysed by quantitative polymerase chain reaction (qPCR) for five putative periodontal pathogens. Outcome variables were compared between and within groups, and multiple regression analysis was performed. RESULTS: A total of 59 patients (29 tests, 30 placebos) were included in the analysis. Both treatment groups experienced a statistically significant improvement in mean GI (p < .0001), but no differences between treatment groups were found for any clinical index. A significantly higher reduction in the number of sites with higher GI scores (GI = 3 at baseline) was observed in the test group. In subgingival samples, a significant reduction in T. forsythia was significant only in the test group (p < .008). CONCLUSIONS: The use of probiotic tablets containing L. plantarum, L. brevis and P. acidilactici did not lead to significant changes in mean GI; although a significant reduction occurred in the number of sites with severe inflammation. Furthermore, the adjunctive use of this probiotic promoted a significant microbiological impact.


Asunto(s)
Gingivitis/microbiología , Gingivitis/terapia , Lactobacillus , Probióticos/uso terapéutico , Adulto , Método Doble Ciego , Femenino , Humanos , Masculino , Reacción en Cadena de la Polimerasa , Resultado del Tratamiento
10.
J Alzheimers Dis ; 56(2): 601-617, 2017.
Artículo en Inglés | MEDLINE | ID: mdl-28035917

RESUMEN

The major genetic risk factor for Alzheimer's disease (AD), apolipoprotein E4 (ApoE4), has been suggested to have detrimental effects on neurons, including direct toxicity via apoptosis. Thioredoxin-1 (Trx1) is an endogenous antioxidant protein important for redox regulation and participates in the regulation of apoptosis through the inhibition of apoptosis signal-regulating kinase-1 (Ask-1). In this study, we have investigated the effects of ApoE on Trx1 in the brain. Our results showed that the protein levels of Trx1 were reduced in the hippocampus of ApoE4 targeted replacement (TR) mice compared to ApoE3 TR mice. The reduction was also seen in vitro after treatment of both human primary cortical neurons and neuroblastoma cells with human recombinant ApoE4 (rApoE4). Furthermore, ApoE4 caused a disruption of lysosomal integrity and a shift in the localization of Cathepsin D, an enzyme known to degrade Trx1. ApoE4 treatment induced in addition apoptosis through translocation of Death-domain associated protein-6 (Daxx) from the nucleus to the cytosol, suggesting an activation of the Ask-1 pathway. This toxicity was prevented by overexpression of Trx1 and other endogenous Ask-1 inhibitors. Our data suggests that down-regulation of Trx1 is involved in the toxicity caused by ApoE4. An activated ASK-1 pathway might indeed make cells more vulnerable to other insults such as amyloid-ß, which could partially explain the mechanism behind the strongest genetic risk factor for AD.


Asunto(s)
Apolipoproteína E4/metabolismo , Apoptosis/fisiología , Catepsina D/metabolismo , Lisosomas/metabolismo , Tiorredoxinas/metabolismo , Proteínas Adaptadoras Transductoras de Señales/metabolismo , Animales , Apolipoproteína E4/genética , Apolipoproteínas E/genética , Apolipoproteínas E/metabolismo , Línea Celular Tumoral , Corteza Cerebral/metabolismo , Corteza Cerebral/patología , Proteínas Co-Represoras , Femenino , Hipocampo/metabolismo , Hipocampo/patología , Humanos , MAP Quinasa Quinasa Quinasa 5/antagonistas & inhibidores , MAP Quinasa Quinasa Quinasa 5/metabolismo , Ratones Endogámicos C57BL , Ratones Transgénicos , Chaperonas Moleculares , Neuronas/metabolismo , Neuronas/patología , Proteínas Nucleares/metabolismo , Estrés Oxidativo/fisiología , Proteínas Recombinantes/metabolismo
11.
Rev Enferm ; 35(7-8): 22-6, 29-34, 2012.
Artículo en Español | MEDLINE | ID: mdl-22973770

RESUMEN

OBJECTIVE: To analyze and consider scientific documents which develop the impact of Continuous Training in health sciences. DESIGN: Literature review STUDY SELECTION: 18 articles are included, organised in two categories: a) the theory and application of Continuous Training to healthcare professionals, b) the impact of Continued Training in healthcare organisations. RESULTS: All of the authors position themselves clearly in favour of CT in healthcare organisations in all professional categories (whether healthcare or not), as a strategic instrument of change and growth. The importance of assessing the impact that both professionals and institutions have on the end-product (i.e. the health of people) is emphasised. Despite the difficulties involved, to establish their impact is of vital importance in order to verify their benefits and effectiveness. CONCLUSIONS: Regular assessment is essential for introducing changes in training programmes so that they are adapted to the requirements of healthcare organisations and the needs of their professionals.


Asunto(s)
Atención a la Salud , Educación Continua en Enfermería , Personal de Salud/educación , Organizaciones
12.
Rev. Rol enferm ; 35(7/8): 502-514, jul.-ago. 2012.
Artículo en Español | IBECS | ID: ibc-100848

RESUMEN

Objetivo: analizar y reflexionar sobre documentos que desarrollan el impacto de la Formación Continuada (FC) en las ciencias de la salud. Diseño: revisión bibliográfica. Selección estudios: se han incluido 18 artículos organizados en dos categorías: a) teoría y aplicación de la formación continuada a profesionales sanitarios, b) impacto de la formación continuada en organizaciones sanitarias. Resultados: todos los autores se posicionan claramente a favor de la FC en las organizaciones sanitarias en todas las categorías profesionales (sanitarias o no), como instrumento estratégico de cambio y crecimiento. Se incide en la importancia de evaluar el impacto que genera tanto en los profesionales como en las instituciones y en su producto final: la salud de las personas. A pesar de las dificultades que comporta, es de vital importancia establecer su impacto para verificar sus beneficios y efectividad. Conclusiones: la evaluación periódica de la FC es imprescindible para introducir modificaciones en los programas formativos y que se adapten a los requerimientos de las organizaciones sanitarias y a las necesidades de sus profesionales(AU)


bjective: To analyze and consider scientific documents which develop the impact of Continuous Training in health sciences. Design: Literature review. Study Selection: 18 articles are included, organised in two categories: a) the theory and application of Continuous Training to healthcare professionals, b) the impact of Continued Training in healthcare organisations. Results: All of the authors position themselves clearly in favour of CT in healthcare organisations in all professional categories (whether healthcare or not), as a strategic instrument of change and growth. The importance of assessing the impact that both professionals and institutions have on the end-product (i.e. the health of people) is emphasised. Despite the difficulties involved, to establish their impact is of vital importance in order to verify their benefits and effectiveness. Conclusions: Regular assessment is essential for introducing changes in training programmes so that they are adapted to the requirements of healthcare organisations and the needs of their professionals(AU)


Asunto(s)
Humanos , Masculino , Femenino , Educación Continua en Enfermería/métodos , Educación Continua en Enfermería/tendencias , Organizaciones de Normalización Profesional/organización & administración , Organizaciones de Normalización Profesional/normas , Educación Continua en Enfermería , Educación Continua en Enfermería/organización & administración , Educación Continua en Enfermería/normas , Organizaciones de Normalización Profesional/legislación & jurisprudencia , Organizaciones de Normalización Profesional/estadística & datos numéricos
13.
Obesity (Silver Spring) ; 20(4): 909-15, 2012 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-22030988

RESUMEN

Childhood and adult obesity have been widely associated with FTO genetic variability in different populations. This study aimed to investigate the linkage disequilibrium (LD) block structure of a region surrounding the candidate rs9939609 SNP and determine the best single nucleotide polymorphism (SNP) combination that explains the higher proportion of variability observed in children with severe obesity, including obese subjects from families with a very high occurrence of obesity. A sliding window approach pointed to a block containing the rs1477196/rs17817449/rs9939609 haplotype (P value 3.1 × 10(-8)). Carriers of the GGA combination had an increased risk of obesity (odds ratio (OR) 2.07, 95% confidence interval (CI) 1.41-3.04, P = 2.0 × 10(-4)) with respect to those individuals with the reference ATT haplotype. A further SNP, rs9921255, also showed association with obesity (P = 8.3 × 10(-4), OR 1.77; 95% CI 1.15-2.74 and OR 5.78; 95% CI 1.22-27.49 for heterozygotes and homozygotes, respectively) and did not segregate with the previously described risk haplotype. The calculation of risk score based on the GGA haplotype combined with the rs9921255 variant showed a much greater effect of the FTO gene on high BMI. This score yields an attributable risk of 34% for severe obesity, and the increased risk per risk allele was 1.71 (P = 1.0 × 10(-6)). We conclude that the description of this polymorphic combination in the FTO gene could be useful for the early identification of inherited susceptibility to weight-gain since childhood, with a higher sensitivity than considering the effect of a single marker.


Asunto(s)
Obesidad/epidemiología , Obesidad/genética , Proteínas/genética , Adolescente , Edad de Inicio , Dioxigenasa FTO Dependiente de Alfa-Cetoglutarato , Índice de Masa Corporal , Niño , Femenino , Predisposición Genética a la Enfermedad , Haplotipos , Humanos , Masculino , Oportunidad Relativa , Polimorfismo de Nucleótido Simple , Factores de Riesgo , España/epidemiología
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