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1.
Nature ; 625(7993): 134-147, 2024 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-38093007

RESUMEN

Scientific evidence regularly guides policy decisions1, with behavioural science increasingly part of this process2. In April 2020, an influential paper3 proposed 19 policy recommendations ('claims') detailing how evidence from behavioural science could contribute to efforts to reduce impacts and end the COVID-19 pandemic. Here we assess 747 pandemic-related research articles that empirically investigated those claims. We report the scale of evidence and whether evidence supports them to indicate applicability for policymaking. Two independent teams, involving 72 reviewers, found evidence for 18 of 19 claims, with both teams finding evidence supporting 16 (89%) of those 18 claims. The strongest evidence supported claims that anticipated culture, polarization and misinformation would be associated with policy effectiveness. Claims suggesting trusted leaders and positive social norms increased adherence to behavioural interventions also had strong empirical support, as did appealing to social consensus or bipartisan agreement. Targeted language in messaging yielded mixed effects and there were no effects for highlighting individual benefits or protecting others. No available evidence existed to assess any distinct differences in effects between using the terms 'physical distancing' and 'social distancing'. Analysis of 463 papers containing data showed generally large samples; 418 involved human participants with a mean of 16,848 (median of 1,699). That statistical power underscored improved suitability of behavioural science research for informing policy decisions. Furthermore, by implementing a standardized approach to evidence selection and synthesis, we amplify broader implications for advancing scientific evidence in policy formulation and prioritization.


Asunto(s)
Ciencias de la Conducta , COVID-19 , Práctica Clínica Basada en la Evidencia , Política de Salud , Pandemias , Formulación de Políticas , Humanos , Ciencias de la Conducta/métodos , Ciencias de la Conducta/tendencias , Comunicación , COVID-19/epidemiología , COVID-19/etnología , COVID-19/prevención & control , Cultura , Práctica Clínica Basada en la Evidencia/métodos , Liderazgo , Pandemias/prevención & control , Salud Pública/métodos , Salud Pública/tendencias , Normas Sociales
2.
Proc Natl Acad Sci U S A ; 119(30): e2120755119, 2022 07 26.
Artículo en Inglés | MEDLINE | ID: mdl-35858405

RESUMEN

From vaccination refusal to climate change denial, antiscience views are threatening humanity. When different individuals are provided with the same piece of scientific evidence, why do some accept whereas others dismiss it? Building on various emerging data and models that have explored the psychology of being antiscience, we specify four core bases of key principles driving antiscience attitudes. These principles are grounded in decades of research on attitudes, persuasion, social influence, social identity, and information processing. They apply across diverse domains of antiscience phenomena. Specifically, antiscience attitudes are more likely to emerge when a scientific message comes from sources perceived as lacking credibility; when the recipients embrace the social membership or identity of groups with antiscience attitudes; when the scientific message itself contradicts what recipients consider true, favorable, valuable, or moral; or when there is a mismatch between the delivery of the scientific message and the epistemic style of the recipient. Politics triggers or amplifies many principles across all four bases, making it a particularly potent force in antiscience attitudes. Guided by the key principles, we describe evidence-based counteractive strategies for increasing public acceptance of science.


Asunto(s)
Negación en Psicología , Evitación de Información , Comunicación Persuasiva , Política , Ciencia , Actitud , Cambio Climático , Cognición , Humanos
3.
Behav Brain Sci ; 46: e138, 2023 07 18.
Artículo en Inglés | MEDLINE | ID: mdl-37462185

RESUMEN

De Neys makes some useful points regarding dual-process models, but his critique ignores highly relevant theories of judgment from the persuasion literature. These persuasion models predate and often circumvent many of the criticisms he makes of the dual-process approaches he covers. Furthermore, the persuasion models anticipated some of the correctives to dual-process models that he proposes.


Asunto(s)
Juicio , Comunicación Persuasiva , Masculino , Humanos
4.
Behav Brain Sci ; 44: e3, 2021 02 18.
Artículo en Inglés | MEDLINE | ID: mdl-33599598

RESUMEN

Cleansing (separation) inductions reduce the impact of negative and positive reactions, whereas connection manipulations magnify them. We suggest that grounded procedures can produce these effects by affecting the perceived validity of thoughts. In accord with the self-validation theory, we also note the importance of considering how moderators, such as the meaning of the action and the timing of inductions, affect outcomes.

5.
Pers Soc Psychol Rev ; 24(4): 316-344, 2020 11.
Artículo en Inglés | MEDLINE | ID: mdl-32715894

RESUMEN

In recent years, psychology has wrestled with the broader implications of disappointing rates of replication of previously demonstrated effects. This article proposes that many aspects of this pattern of results can be understood within the classic framework of four proposed forms of validity: statistical conclusion validity, internal validity, construct validity, and external validity. The article explains the conceptual logic for how differences in each type of validity across an original study and a subsequent replication attempt can lead to replication "failure." Existing themes in the replication literature related to each type of validity are also highlighted. Furthermore, empirical evidence is considered for the role of each type of validity in non-replication. The article concludes with a discussion of broader implications of this classic validity framework for improving replication rates in psychological research.


Asunto(s)
Psicología , Reproducibilidad de los Resultados , Proyectos de Investigación , Humanos , Investigación
6.
Psychol Sci ; 30(8): 1136-1150, 2019 08.
Artículo en Inglés | MEDLINE | ID: mdl-31268819

RESUMEN

When crafting a message, communicators may turn to moral rhetoric as a means of influencing an audience's opinion. In the present research, we tested whether the persuasiveness of explicitly moral counterattitudinal messages depends on how much people have already based their attitudes on moral considerations. A survey of the literature suggests several competing hypotheses that we tested across two studies. The results support a persuasive-matching pattern: A moral appeal was more persuasive than a nonmoral appeal to the extent that initial attitudes were based on moral concerns (i.e., attitudes were moralized), but the opposite was true when initial attitudes had less of a moral basis. Exploratory analyses also showed that these effects were mediated by valenced thoughts about the message and moderated by political orientation. These findings add new insight to literatures on both the effects of moral arguments and moralized attitudes.


Asunto(s)
Actitud , Principios Morales , Comunicación Persuasiva , Adulto , Economía , Femenino , Humanos , Masculino , Metaanálisis como Asunto , Persona de Mediana Edad , Política , Sociología , Encuestas y Cuestionarios
7.
Aggress Behav ; 45(3): 255-264, 2019 05.
Artículo en Inglés | MEDLINE | ID: mdl-30693962

RESUMEN

Research on aggression has benefitted from using individual-difference measures to predict aggressive behavior. Research on meta-cognition has recently identified that the predictive utility of individual-difference inventories can be improved by considering the certainty with which people hold their self-views. Merging these two frameworks, the present research examines whether assessing certainty in trait aggressiveness improves its ability to predict aggressive outcomes. Across two studies, participants reported their level of trait physical aggressiveness and the certainty with which they held their responses to the scale (predictor variables). Aggressive behavioral intentions (Study 1 and 2) and actual aggressive behavior (Study 2) were used as dependent measures. As hypothesized, results indicated that certainty moderated the effects of individual-differences in aggressiveness on both aggressive outcomes. Therefore, considering the certainty with which people hold their relevant traits can be useful for understanding aggression, and also for predicting the consistency between personality and behavior.


Asunto(s)
Agresión/psicología , Metacognición/fisiología , Personalidad/fisiología , Adolescente , Femenino , Humanos , Intención , Masculino , Adulto Joven
8.
J Sport Exerc Psychol ; 41(1): 36-45, 2019 Feb 01.
Artículo en Inglés | MEDLINE | ID: mdl-30909779

RESUMEN

Research on self-talk has found that what athletes say to themselves influences their performance in sport settings. This experiment analyzed the relationship between positive and negative self-talk and physical performance in light of another variable: overt head movements. Participants were randomly assigned to first generate and then listen to either positive or negative self-statements. They were then randomly assigned to nod (up and down) or to shake (side to side) their heads while being exposed to the self-statements they had previously generated. Finally, physical performance was assessed using a vertical-jump task, a squat test, and a deadlift task. As expected, positive self-statements led to better performance than negative self-statements in 2 out of 3 physical tasks. Most relevant, the main effect of self-talk was significantly qualified by head movements. Consistent with the authors' hypothesis, athletes' self-statements were significantly more impactful on physical performance in the head-nodding condition than in the head-shaking condition.


Asunto(s)
Atletas/psicología , Rendimiento Atlético/psicología , Comunicación , Movimientos de la Cabeza , Deportes/psicología , Adolescente , Adulto , Femenino , Humanos , Masculino , Persona de Mediana Edad , Adulto Joven
9.
Behav Brain Sci ; 41: e146, 2018 01.
Artículo en Inglés | MEDLINE | ID: mdl-31064535

RESUMEN

Although Zwaan et al. argue that original researchers should provide a replication recipe that provides great specificity about the operational details of one's study, I argue that it may be as important to provide a recipe that allows replicators to conduct a study that matches the original in as many conceptual details as possible (i.e., an exact conceptual replication).


Asunto(s)
Proyectos de Investigación , Reproducibilidad de los Resultados , Investigadores
10.
J Neurol Neurosurg Psychiatry ; 87(8): 802-9, 2016 08.
Artículo en Inglés | MEDLINE | ID: mdl-27147698

RESUMEN

BACKGROUND: Congenital myasthenic syndrome (CMS) due to mutations in GMPPB has recently been reported confirming the importance of glycosylation for the integrity of neuromuscular transmission. METHODS: Review of case notes of patients with mutations in GMPPB to identify the associated clinical, neurophysiological, pathological and laboratory features. In addition, serum creatine kinase (CK) levels within the Oxford CMS cohort were retrospectively analysed to assess its usefulness in the differential diagnosis of this new entity. RESULTS: All patients had prominent limb-girdle weakness with minimal or absent craniobulbar manifestations. Presentation was delayed beyond infancy with proximal muscle weakness and most patients recall poor performance in sports during childhood. Neurophysiology showed abnormal neuromuscular transmission only in the affected muscles and myopathic changes. Muscle biopsy showed dystrophic features and reduced α-dystroglycan glycosylation. In addition, myopathic changes were present on muscle MRI. CK was significantly increased in serum compared to other CMS subtypes. Patients were responsive to pyridostigimine alone or combined with 3,4-diaminopyridine and/or salbutamol. CONCLUSIONS: Patients with GMPPB-CMS have phenotypic features aligned with CMS subtypes harbouring mutations within the early stages of the glycosylation pathway. Additional features shared with the dystroglycanopathies include myopathic features, raised CK levels and variable mild cognitive delay. This syndrome underlines that CMS can occur in the absence of classic myasthenic manifestations such as ptosis and ophthalmoplegia or facial weakness, and links myasthenic disorders with dystroglycanopathies. This report should facilitate the recognition of this disorder, which is likely to be underdiagnosed and can benefit from symptomatic treatment.


Asunto(s)
Síndromes Miasténicos Congénitos/diagnóstico , Síndromes Miasténicos Congénitos/genética , Nucleotidiltransferasas/genética , Adolescente , Adulto , Anciano , Disfunción Cognitiva/complicaciones , Creatina Quinasa/sangre , Distroglicanos/metabolismo , Femenino , Glicosilación , Humanos , Masculino , Persona de Mediana Edad , Mutación , Síndromes Miasténicos Congénitos/metabolismo , Síndromes Miasténicos Congénitos/fisiopatología , Adulto Joven
11.
Psychol Sci ; 27(12): 1660-1666, 2016 12.
Artículo en Inglés | MEDLINE | ID: mdl-27770058

RESUMEN

Research has shown that people who feel powerful are more likely to act than those who feel powerless, whereas people who feel ambivalent are less likely to act than those whose reactions are univalent (entirely positive or entirely negative). But what happens when powerful people also are ambivalent? On the basis of the self-validation theory of judgment, we hypothesized that power and ambivalence would interact to predict individuals' action. Because power can validate individuals' reactions, we reasoned that feeling powerful strengthens whatever reactions people have during a decision. It can strengthen univalent reactions and increase action orientation, as shown in past research. Among people who hold an ambivalent judgment, however, those who feel powerful would be less action oriented than those who feel powerless. Two experiments provide evidence for this hypothesized interactive effect of power and ambivalence on individuals' action tendencies during both positive decisions (promoting an employee; Experiment 1) and negative decisions (firing an employee; Experiment 2). In summary, when individuals' reactions are ambivalent, power increases the likelihood of inaction.


Asunto(s)
Afecto/fisiología , Emociones/fisiología , Poder Psicológico , Actitud , Toma de Decisiones/fisiología , Humanos , Autoimagen , Pensamiento/fisiología
12.
Brain ; 138(Pt 9): 2493-504, 2015 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-26133662

RESUMEN

Congenital myasthenic syndromes are inherited disorders that arise from impaired signal transmission at the neuromuscular junction. Mutations in at least 20 genes are known to lead to the onset of these conditions. Four of these, ALG2, ALG14, DPAGT1 and GFPT1, are involved in glycosylation. Here we identify a fifth glycosylation gene, GMPPB, where mutations cause congenital myasthenic syndrome. First, we identified recessive mutations in seven cases from five kinships defined as congenital myasthenic syndrome using decrement of compound muscle action potentials on repetitive nerve stimulation on electromyography. The mutations were present through the length of the GMPPB, and segregation, in silico analysis, exon trapping, cell transfection followed by western blots and immunostaining were used to determine pathogenicity. GMPPB congenital myasthenic syndrome cases show clinical features characteristic of congenital myasthenic syndrome subtypes that are due to defective glycosylation, with variable weakness of proximal limb muscle groups while facial and eye muscles are largely spared. However, patients with GMPPB congenital myasthenic syndrome had more prominent myopathic features that were detectable on muscle biopsies, electromyography, muscle magnetic resonance imaging, and through elevated serum creatine kinase levels. Mutations in GMPPB have recently been reported to lead to the onset of muscular dystrophy dystroglycanopathy. Analysis of four additional GMPPB-associated muscular dystrophy dystroglycanopathy cases by electromyography found that a defective neuromuscular junction component is not always present. Thus, we find mutations in GMPPB can lead to a wide spectrum of clinical features where deficit in neuromuscular transmission is the major component in a subset of cases. Clinical recognition of GMPPB-associated congenital myasthenic syndrome may be complicated by the presence of myopathic features, but correct diagnosis is important because affected individuals can respond to appropriate treatments.


Asunto(s)
Distroglicanos/metabolismo , Mutación/genética , Síndromes Miasténicos Congénitos/genética , Unión Neuromuscular/fisiopatología , Nucleotidiltransferasas/genética , Adolescente , Adulto , Análisis Mutacional de ADN , Salud de la Familia , Femenino , Células HEK293 , Humanos , Imagen por Resonancia Magnética , Masculino , Músculo Esquelético/patología , Síndromes Miasténicos Congénitos/patología , Unión Neuromuscular/patología , Nucleotidiltransferasas/metabolismo , Transfección , Adulto Joven
13.
Clin Sci (Lond) ; 128(12): 895-904, 2015 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-25626417

RESUMEN

Complex I (CI) is the largest of the five multi-subunit complexes constituting the human oxidative phosphorylation (OXPHOS) system. Seven of its catalytic core subunits are encoded by mitochondrial DNA (ND (NADH dehydrogenase)1-6, ND4L (NADH dehydrogenase subunit 4L)), with mutations in all seven having been reported in association with isolated CI deficiency. We investigated two unrelated adult patients presenting with marked exercise intolerance, persistent lactic acidaemia and severe muscle-restricted isolated CI deficiency associated with sub-sarcolemmal mitochondrial accumulation. Screening of the mitochondrial genome detected novel mutations in the MTND1 (NADH dehydrogenase subunit 1) gene, encoding subunit of CI [Patient 1, m.3365T>C predicting p.(Leu20Pro); Patient 2, m.4175G>A predicting p.(Trp290*)] at high levels of mitochondrial DNA heteroplasmy in skeletal muscle. We evaluated the effect of these novel MTND1 mutations on complex assembly showing that CI assembly, although markedly reduced, was viable in the absence of detectable ND1 signal. Real-time PCR and Western blotting showed overexpression of different CI assembly factor transcripts and proteins in patient tissue. Together, our data indicate that the mechanism underlying the expression of the biochemical defect may involve a compensatory response to the novel MTND1 gene mutations, promoting assembly factor up-regulation and stabilization of respiratory chain super-complexes, resulting in partial rescue of the clinical phenotype.


Asunto(s)
Complejo I de Transporte de Electrón/deficiencia , Tolerancia al Ejercicio/genética , Miopatías Mitocondriales/genética , Mutación , NADH Deshidrogenasa/genética , Adolescente , ADN Mitocondrial/genética , Prueba de Esfuerzo/métodos , Femenino , Humanos , Miopatías Mitocondriales/enzimología , Músculo Esquelético/enzimología , Linaje , Adulto Joven
14.
Cogn Emot ; 29(1): 1-26, 2015.
Artículo en Inglés | MEDLINE | ID: mdl-25302943

RESUMEN

This article addresses the multiple ways in which emotions can influence attitudes and persuasion via primary and secondary (meta-) cognition. Using the elaboration likelihood model of persuasion as a guide, we review evidence for five fundamental processes that occur at different points along the elaboration continuum. When the extent of thinking is constrained to be low, emotions influence attitudes by relatively simple processes that lead them to change in a manner consistent with the valence of the emotion. When thinking is constrained to be high, emotions can serve as arguments in favour of a proposal if they are relevant to the merits of the advocacy or they can bias thinking if the emotion precedes the message. If thinking is high and emotions become salient after thinking, they can lead people to rely or not rely on the thoughts generated either because the emotion leads people to like or dislike their thoughts (affective validation) or feel more confident or doubtful in their thoughts (cognitive validation). When thinking is unconstrained, emotions influence the extent of thinking about the persuasive communication. Although prior theories have addressed one or more of these fundamental processes, no other approach has integrated them into one framework.


Asunto(s)
Actitud , Cognición , Emociones , Modelos Psicológicos , Comunicación Persuasiva , Humanos , Funciones de Verosimilitud
15.
J Neurol Neurosurg Psychiatry ; 85(12): 1359-65, 2014 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-24695763

RESUMEN

OBJECTIVE: GNE myopathy is a rare recessive myopathy associated with inclusion bodies on muscle biopsy. The clinical phenotype is associated with distal muscle weakness with quadriceps sparing. Most of the current information on GNE myopathy has been obtained through studies of Jewish and Japanese patient cohorts carrying founder mutations in the GNE gene. However, little is known about GNE myopathy in Europe where the prevalence is thought to be very low. METHODS: Patients were referred through the National Specialist Commissioning Team service for limb-girdle muscular dystrophies at Newcastle (UK). All patients harbouring mutations in the GNE gene were recruited for our study. Detailed clinical and genetic data as well as muscle MRIs and muscle biopsies were reviewed. RESULTS: We identified 26 patients harbouring mutations in the GNE gene. Two previously reported mutations (c.1985C>T, p.Ala662Val and c.1225G>T, p.Asp409Tyr) were prevalent in the Scottish, Northern Irish and Northern English populations; with 90% of these patients carrying at least one of the two mutations. Clinically, we confirmed the homogenous pattern of selective quadriceps sparing but noted additional features like asymmetry of weakness at disease onset. CONCLUSIONS: GNE myopathy is an important diagnosis to consider in patients presenting with distal leg muscle weakness. We report, for the first time, two common mutations in the north of Britain and highlight the broader spectrum of clinical phenotypes. We also propose that the prevalence of GNE myopathy may be underestimated due to the frequent absence of rimmed vacuoles in the muscle biopsy.


Asunto(s)
Miopatías Distales/genética , Complejos Multienzimáticos/genética , Mutación/genética , Adolescente , Adulto , Niño , Miopatías Distales/epidemiología , Miopatías Distales/patología , Femenino , Mutación del Sistema de Lectura/genética , Humanos , Imagen por Resonancia Magnética , Masculino , Debilidad Muscular/genética , Debilidad Muscular/patología , Músculo Esquelético/patología , Mutación Missense/genética , Reino Unido/epidemiología , Adulto Joven
16.
Clin Rehabil ; 28(5): 508-19, 2014 May.
Artículo en Inglés | MEDLINE | ID: mdl-24240060

RESUMEN

OBJECTIVE: To replicate the finding that illness perceptions influence quality of life in adults with muscle disease and to explore the additional influence of coping and optimism on quality of life and mood. DESIGN: A postal survey including questionnaires recording quality of life, mood, illness perceptions, optimism, coping and functional impairment. SETTING: National Health Service muscle clinics in the United Kingdom. PARTICIPANTS: A convenience sample of adults with muscle disease. INTERVENTIONS: Not applicable. MAIN OUTCOME MEASURES: Individualised Neuromuscular Quality of Life Questionnaire, Hospital Anxiety and Depression Scale. RESULTS: A total of 226 completed questionnaires were returned. Although functional impairment explained most of the variance in three out of eight quality of life domains, psychological factors explained greater amounts of variance (between 19% and 52% of variance) in all other quality of life domains and in both mood domains (between 45% and 48% of variance). Overall, illness perceptions explained much of the variance in quality of life and mood score (between 5% and 37% of variance), while coping (up to 8% of variance) and optimism (up to 15% of variance) explained smaller amounts of variance. CONCLUSION: The results confirm that illness perceptions are associated with quality of life in muscle disease and suggest that they also influence mood. The addition of optimism and coping variables into the analysis yielded small increases in the proportions of variance in quality of life and mood which were explained. These results have implications for the composition of future psychological interventions.


Asunto(s)
Adaptación Psicológica , Afecto , Enfermedades Musculares/psicología , Calidad de Vida/psicología , Perfil de Impacto de Enfermedad , Adolescente , Adulto , Anciano , Interpretación Estadística de Datos , Femenino , Humanos , Masculino , Persona de Mediana Edad , Servicios Postales , Análisis de Regresión , Encuestas y Cuestionarios , Reino Unido , Adulto Joven
17.
Sci Adv ; 10(24): eadn2965, 2024 Jun 14.
Artículo en Inglés | MEDLINE | ID: mdl-38865461

RESUMEN

Political extremism varies across people and contexts, but which beliefs will a person support through extreme actions? We propose that ambivalent attitudes, despite reducing normative political actions like voting, increase support for extreme political actions. We demonstrate this hypothesized reversal using dozens of measures across six studies (N = 13,055). The effect was robust to relevant covariates and numerous methodological variations and was magnified when people's attitudinal or ideological positions were more polarized. It appears to occur because being conflicted about political issues can feel psychologically uncomfortable, making extreme actions more appealing. Notably, this emerged when people thought ambivalence was justified, whereas leading them to consider ambivalence unjustified suppressed the effect, suggesting that ambivalent people are coping with but not necessarily trying to reduce their ambivalence. These results highlight the interplay of affective and cognitive influences in extreme behavior, showing that beliefs people feel justifiably conflicted about can promote extremism.


Asunto(s)
Actitud , Política , Humanos , Masculino , Femenino , Adulto
18.
Pers Soc Psychol Bull ; : 1461672231223308, 2024 Jan 29.
Artículo en Inglés | MEDLINE | ID: mdl-38284648

RESUMEN

Contrary to common beliefs, sometimes downplaying or even undermining one's case can enhance impact, especially for people with strong attitudes. Across four studies (N = 1,548), we demonstrate that the placement of the undermining information within a two-sided message matters. By manipulating message order within a two-sided message, Study 1 showed that the relative effectiveness of two- over one-sided messages for people with a moral attitude primarily occurred when the two-sided message acknowledged the recipient's side at the end rather than at the beginning of the message. Studies 2A/B showed that this effect was associated with positive source perceptions, such that placing the acknowledgment at the end results in people with a higher moral basis perceiving the source as more thoughtful and sincere. Furthermore, this inference process was more likely to occur when motivation to think was relatively high. Study 3, a preregistered experiment, replicated these findings using a different topic.

19.
Br J Soc Psychol ; 2024 Jul 01.
Artículo en Inglés | MEDLINE | ID: mdl-38949294

RESUMEN

The present research examined whether consideration of individuals' certainty in their holism can enhance the ability of this individual difference to predict how they respond to contradiction-relevant outcomes. Across four studies, participants first completed a standardized measure of holistic-analytic thinking. Then, they rated how certain they were in their responses to the holism scale or were experimentally induced to feel high or low certainty. Next, participants were exposed to dialectical proverbs (Study 1a and 1b), to a counter-attitudinal change induction (Study 2), or to a paradigm of attitudinal ambivalence (Study 3). Results revealed that participants with higher certainty in their holistic thinking exhibited higher preference for dialectical proverbs (Study 1a and 1b), changed their attitude less following a counter-attitudinal task (Study 2) and showed weaker correspondence between objective and subjective ambivalence (Study 3). Beyond examining new domains and discovering novel findings, the present work was designed to be the first to show moderation of previously identified effects in the domain of holistic thinking and responses to contradiction.

20.
J Neuromuscul Dis ; 11(1): 179-189, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38108361

RESUMEN

BACKGROUND: The m.3243A>G variant is the commonest mitochondrial (mt) DNA pathogenic variant and a frequent cause of mitochondrial disease. Individuals present with a variety of clinical manifestations from diabetes to neurological events resembling strokes. Due to this, patients are commonly cared for by a multidisciplinary team. OBJECTIVES: This project aimed to identify patients with confirmed mt.3243A>G-related mitochondrial disease attending the Muscle Clinic at Queen Elizabeth University Hospital in Glasgow. We explored potential correlates between clinical phenotypes and mtDNA heteroplasmy levels, HbA1c levels, body mass index, and specific clinical manifestations. We investigated if there were discrepancies between non-neurological speciality labelling in clinical records and individuals' phenotypes. METHODS: Data were gathered from the West of Scotland electronic records. Phenotypes were ascertained by a clinician with expertise in mitochondrial disorders. Statistical analyses were applied to study relationships between tissue heteroplasmy, HbA1c and clinical phenotypes including body mass index (BMI). RESULTS: Forty-six individuals were identified from 31 unrelated pedigrees. Maternally inherited diabetes and deafness was the prominent syndromic phenotype (48%). A significant association was found between overall number of symptoms and bowel dysmotility (p < 0.01). HbA1c was investigated as a predictor of severity with potential association seen. Although used widely as a prognosticator, neither corrected blood nor urine mtDNA heteroplasmy levels were associated with increased number of symptoms. In 74.1% of records, syndromic phenotypes were incorrectly used by non-neurological specialities. CONCLUSIONS: This m.3243 A > G patient cohort present with marked clinical heterogeneity. Urine and blood heteroplasmy levels are not reliable predictors of disease severity. HbA1c may be a novel predictor of disease severity with further research required to investigate this association. We infer that prognosis may be worse in patients with low BMIs and in those with bowel dysmotility. These results underscore a multidisciplinary approach and highlight a problem with inaccurate use of the existing nomenclature.


Asunto(s)
Enfermedades Mitocondriales , Humanos , Hemoglobina Glucada , Enfermedades Mitocondriales/diagnóstico , Enfermedades Mitocondriales/genética , ADN Mitocondrial/genética , Fenotipo , Gravedad del Paciente
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