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1.
Clin Genet ; 106(1): 114-115, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-38715525

RESUMO

FGF12 related epilepsy presents with variable phenotypes. We report another patient with a duplication involving the FGF12 gene who presented similar to other published cases having normal early development and responded to phenytoin.


Assuntos
Variações do Número de Cópias de DNA , Epilepsia , Fatores de Crescimento de Fibroblastos , Humanos , Variações do Número de Cópias de DNA/genética , Fatores de Crescimento de Fibroblastos/genética , Epilepsia/genética , Masculino , Feminino , Fenótipo
2.
Int J Mol Sci ; 25(4)2024 Feb 08.
Artigo em Inglês | MEDLINE | ID: mdl-38396737

RESUMO

In the realm of cancer therapeutics, targeting the hypoxia-inducible factor (HIF) pathway has emerged as a promising strategy. This study delves into the intricate web of HIF-associated mechanisms, exploring avenues for future anticancer therapies. Framing the investigation within the broader context of cancer progression and hypoxia response, this article aims to decipher the pivotal role played by HIF in regulating genes influencing angiogenesis, cell proliferation, and glucose metabolism. Employing diverse approaches such as HIF inhibitors, anti-angiogenic therapies, and hypoxia-activated prodrugs, the research methodologically intervenes at different nodes of the HIF pathway. Findings showcase the efficacy of agents like EZN-2968, Minnelide, and Acriflavine in modulating HIF-1α protein synthesis and destabilizing HIF-1, providing preliminary proof of HIF-1α mRNA modulation and antitumor activity. However, challenges, including toxicity, necessitate continued exploration and development, as exemplified by ongoing clinical trials. This article concludes by emphasizing the potential of targeted HIF therapies in disrupting cancer-related signaling pathways.


Assuntos
Carcinoma de Células Renais , Neoplasias Renais , Humanos , Proteína Supressora de Tumor Von Hippel-Lindau/genética , Fator A de Crescimento do Endotélio Vascular/metabolismo , Carcinoma de Células Renais/metabolismo , Neoplasias Renais/metabolismo , Hipóxia , Subunidade alfa do Fator 1 Induzível por Hipóxia/genética
3.
Clin Genet ; 104(5): 607-609, 2023 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-37491870

RESUMO

Pedigree showing the autosomal dominant inheritance pattern of CSNK21 variants in families presenting with OCNDS. (A) Maternal inheritance to two daughters in Family 1, (B) Paternal inheritance to a daughter in Family 2, and (C) Maternal inheritance to two sons in Family 3.

4.
PLoS One ; 18(6): e0286305, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37267278

RESUMO

Evidence suggesting that episodic specificity induction improves divergent thinking performance in younger and older adults has been taken as indicative of the role of declarative memory processes in creativity. A series of studies were carried out to verify the specificity of such findings by investigating the effects of several novel episodic and semantic memory induction procedures on a widely employed measure of divergent creative thinking (the Alternate Uses Task), in comparison to a control induction and a no-induction baseline in both younger and older adults. There was no clear evidence for a specific role played by the induction of episodic or semantic memory processes in facilitating creative thinking across the three experiments, and the effects of the induction procedures (episodic, semantic and control) on divergent thinking were not comparable across age groups. On the other hand, higher levels of creativity were generally associated with older adults (60-80 years). In Experiments 2 and 3, older adults generated a greater number of responses (fluency), more unique responses (average originality, peak originality, creativity ratings) and more varied responses (flexibility) than younger adults (18-30 years). The findings are discussed in relation to the specificity of declarative memory operations and their impact on creative thinking, especially within the context of healthy ageing.


Assuntos
Envelhecimento Saudável , Memória Episódica , Pensamento/fisiologia , Semântica , Criatividade , Memória
6.
BMC Psychol ; 10(1): 249, 2022 Nov 04.
Artigo em Inglês | MEDLINE | ID: mdl-36333753

RESUMO

BACKGROUND: The relationship between wellbeing and personality has been studied extensively, but few studies have examined these in the period of adolescence and emerging adulthood. Moreover, the influence of contextual factors such as engagement in leisure activities are rarely considered. METHODS: The present study employs a combination of frequentist and Bayesian analyses to evaluate the concurrent impact of personality traits and leisure activities on five conceptions of wellbeing (life satisfaction; positive affect; negative affect; mental health; flourishing) in three cohorts of young people (aged 14-15; 16-17; 18-20 years). RESULTS: Personality traits were the only significant predictors of life satisfaction and negative affect, but leisure activities in the form of socialising or physical activity, in addition to personality traits, predicted positive affect, mental health and flourishing. Neuroticism was the largest predictor of wellbeing overall, whereas conscientiousness was the most consistent. Lower levels of wellbeing were also associated with higher levels of creative potential. CONCLUSIONS: The study not only confirms the importance of personality traits as predictors of wellbeing in adolescents and young adults, but also indicates the necessity to consider the impact of leisure activities in different conceptions of wellbeing. The negative relationship between creative potential and wellbeing is in line with the literature which shows a link between mental illness, particularly at subclinical levels, and creativity.


Assuntos
Atividades de Lazer , Personalidade , Adulto Jovem , Adolescente , Humanos , Adulto , Teorema de Bayes , Atividades de Lazer/psicologia , Neuroticismo , Saúde Mental
7.
Adv Physiol Educ ; 46(4): 526-539, 2022 Dec 01.
Artigo em Inglês | MEDLINE | ID: mdl-35900355

RESUMO

Mental health conditions can impact college students' academic achievements and experiences. As such, students may choose to disclose mental illnesses on medical school applications. Yet, no recent studies have investigated to what extent disclosure of a mental health condition may impact whether an applicant is accepted to medical school. We conducted an audit study to address this gap and surveyed 99 potential medical school admissions committee members from over 40 M.D.-granting schools in the United States. Participants rated a fictitious portion of a single medical school application on acceptability, competence, and likeability. They were randomly assigned to a condition: an application that explained a low semester grade-point average due to 1) a mental health condition, 2) a physical health condition, or 3) offered no explanation. After rating their respective application, all committee members were asked about when revealing a mental health condition would be beneficial and when it would be detrimental. Using ANOVAs, multinomial regression, and open coding, we found that medical school admissions committee members do not rate applications lower when a mental health condition is revealed. Committee members highlighted that revealing a mental health condition to demonstrate resiliency could be beneficial, but if the reference is vague or the condition is not being managed, it could be detrimental to a student's application. This work indicates that medical school admissions committee members do not exhibit a bias against mental health conditions and provides recommendations on how to discuss mental illness on medical school applications.


Assuntos
Transtornos Mentais , Aplicativos Móveis , Estudantes de Medicina , Viés , Membro de Comitê , Humanos , Saúde Mental , Faculdades de Medicina , Estudantes de Medicina/psicologia , Estados Unidos
8.
J Microbiol Biol Educ ; 23(1)2022 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-35496712

RESUMO

Student incivility, defined as a student behavior perceived to be disrespectful or disruptive to the overall learning environment in a course, can negatively affect the science learning environment and instructors. The transition to online science courses during the COVID-19 pandemic created a unique environment for student incivility to take place in undergraduate courses. There are few studies that examine student incivility in online synchronous courses, and we know of no studies that have investigated student incivility during the COVID-19 pandemic. In this study, we surveyed 283 instructors across U.S. institutions who taught undergraduate science courses with synchronous online components. We probed their experiences with student incivility during the fall 2020 term. Over half of instructors surveyed reported experiencing student incivility, with women being more likely than men to report student incivility. Compared with white instructors, people of color were more likely to perceive an increase in student incivility in fall 2020 relative to previous in-person terms. This work indicates that student incivility is perceived in the online synchronous learning environment and that the negative impacts of perceived student incivility during COVID-19 online instruction were not distributed equally among instructors, disproportionately burdening women and people of color.

9.
Front Psychol ; 13: 994430, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36817380

RESUMO

Introduction: Collaborative care is considered a best practice in mental health care delivery and has recently been applied in high-performance sport to address athletes' mental health needs. However, how the collaborative process unfolds in practice in the sport setting has not yet been well documented. The purpose of this illustrative case study was to investigate a novel interdisciplinary approach used within the Canadian Centre for Mental Health and Sport (CCMHS) to provide mental health care to clients. Focusing on 'how' the approach was implemented, the aim of the study was to provide insight into the collaboration that occurred between mental performance and mental health practitioners to provide care to a high-performance athlete over an 11-month period, as well as factors facilitating and impeding the team's collaboration. The case involved three practitioners and a 16-year-old female athlete experiencing chronic pain, low mood, and elevated anxiety. Methods: In the first phase of the data collection process, each practitioner engaged in guided reflective journaling to describe the case and reflect on their practice and outcomes. During the second phase, practitioners co-created a case timeline to describe the collaborative process using clinical documents. Lastly, practitioners participated in collaborative reflection to collectively reflect more broadly on collaboration practice occurring within the CCMHS and Canadian sport system. Results: The data depict a complex care process in which the necessity and intensity of collaboration was primarily driven by the client's symptoms and needs. A content analysis showed that collaboration was facilitated by the CCMHS' secure online platform and tools, as well as individual practitioner and team characteristics. Collaboration was, however, hindered by logistical challenges, overlapping scopes of practice, and client characteristics. Discussion: Overall, there were more perceived benefits than drawbacks to providing collaborative care. While flexibility was required during the process, deliberate and systematic planning helped to ensure success. Factors such as interdependence of collaborative practice, complementarity of practice within care teams, compensation for collaboration, in-person versus virtual delivery, and intricacies of care coordination should be further examined in the future to optimize collaborative mental health care in sport.

10.
Brain Lang ; 221: 105007, 2021 10.
Artigo em Inglês | MEDLINE | ID: mdl-34416539

RESUMO

The aims of the present ERP study were twofold. First, to determine whether a previous study on creative cognition could be replicated, and second, to extend these findings by examining individual differences in creativity. Conceptual expansion, a capacity that is central to creativity, was induced via the processing of novel metaphors. Brain activity patterns in relation to these were compared to the processing of literal and nonsense phrases. The previous findings were replicated in that the N400, known for its sensitivity to semantic anomalies, indexed the originality of the phrases, while a post-N400 late component (LC), which is linked to semantic integration processes, indexed the appropriateness of the phrases. Moreover, only the LC was significantly sensitive to individual differences in creativity in the processing of these phrases. Differences at the level of semantic integration processes as well as the structure of knowledge organization are thereby implicated in individual differences in creativity.


Assuntos
Individualidade , Metáfora , Criatividade , Eletroencefalografia , Potenciais Evocados , Feminino , Humanos , Masculino
11.
J Pharm Bioallied Sci ; 12(Suppl 1): S214-S217, 2020 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-33149459

RESUMO

AIM: The aim of this study was to assess the prevalence of dental caries and treatment needs among Tibetan monks and nuns in Bylakuppe. MATERIALS AND METHODS: In this cross-sectional study, stratified random sampling was used to obtain desired sample for the study. The clinical examination was carried out to obtain data regarding dental caries status and treatment needs using World Health Organization (WHO) Oral Health Assessment Pro forma 1997. Statistical analysis was carried out using Statistical Package for the Social Sciences (SPSS) software program, version 20.0. The data were statistically analyzed by using descriptive statistics and chi-square test. RESULTS: The study population consisted of 345 Tibetan monks (men) and 35 Tibetan nuns (women). Prevalence of dental caries was 88.68% with mean decayed, missing, and filled teeth (DMFT) value of 6.06 ± 5.37. Assessment of dental treatment needs showed 82.3% of participants needed one surface filling, 11.9% of participants needed pulp care and restoration, and 9.3% of participants required extraction of teeth. CONCLUSION: The study population is characterized by high prevalence of dental caries and lack of awareness about treatment needs.

12.
J Contemp Dent Pract ; 21(3): 280-284, 2020 Mar 01.
Artigo em Inglês | MEDLINE | ID: mdl-32434975

RESUMO

AIM: The present study aimed to assess the use of various local drug delivery systems in the management of chronic periodontitis. MATERIALS AND METHODS: A total of 60 patients aged around 30-55 years were included. The subjects who were enrolled under took a phase I therapy that included scaling and root planing (SRP). Patients who satisfied the conditions for selection to enter the trial were assigned randomly to three groups, with each group consisting of 20 participants as follows: group I: controlled-release drugs-chlorhexidine gel, group II: metronidazole gel, group III: tetracycline fibers. The plaque index (PI), gingival index (GI), and periodontal pocket depth (PPD) were recorded after 1st week as the baseline data and were recorded again after 15 days and 30 days post-baseline. RESULTS: The mean GI scores were 1.32 ± 0.10, 0.88 ± 0.16, and 0.76 ± 0.12, at baseline, 15 days, and 30 days, respectively, in group I. In group II, the mean GI score reduced to 1.09 ± 0.83 at 30 days from 1.48 ± 0.27 at baseline. Likewise, in group III the mean GI score reduced to 0.90 ± 0.62 at 30 days from 1.38 ± 0.06 at baseline. All the groups demonstrated a statistically significant difference at various intervals. The mean PI score decreased to 0.90 ± 0.78 at 15 days from 1.46 ± 0.22 at baseline in group III. A statistically significant difference at different intervals was seen in group III only. In all groups, the intergroup comparison of PPD was found to be statistically significant. CONCLUSION: This study demonstrated that although thorough SRP is an effective treatment method for elimination of chronic periodontal pockets, improved results can be obtained by adjunctive use of locally administered chlorhexidine gel, metronidazole gel, and tetracycline fibers. CLINICAL SIGNIFICANCE: The use of the adjunctive local drug delivery system along with mechanical cleansing in the treatment of periodontal pockets in chronic periodontitis is therapeutically beneficial.


Assuntos
Periodontite Crônica , Adulto , Raspagem Dentária , Sistemas de Liberação de Medicamentos , Humanos , Pessoa de Meia-Idade , Bolsa Periodontal , Aplainamento Radicular
13.
Rev Environ Health ; 35(2): 201-210, 2020 Jun 25.
Artigo em Inglês | MEDLINE | ID: mdl-31743105

RESUMO

Bisphenol-A (BPA) is a synthetic chemical used in the manufacturing of polycarbonates and epoxy resins. This paper is a review of studies reporting the occurrences and concentrations of BPA in the environment and associated impact on human health. Studies have found that at high temperature conditions such as open burning of dumped waste in developing nations can relocate BPA from plastic waste into the environment. BPA is a proven endocrine disruptor capable of mimicking or blocking the receptors and altering hormone concentrations and its metabolism. Even though it is consumed in a low dose, it can stimulate cellular responses and affect body functions. Biomonitoring studies show that human and animal exposure to BPA is rapid and continuous. In-depth studies are needed to understand the fate of these compounds particularly in the developing nations and the associated adverse health impacts of BPA due to prolonged exposure.


Assuntos
Compostos Benzidrílicos/efeitos adversos , Disruptores Endócrinos/efeitos adversos , Exposição Ambiental/efeitos adversos , Fenóis/efeitos adversos , Animais , Humanos , Camundongos
14.
Neuropsychologia ; 118(Pt A): 29-39, 2018 09.
Artigo em Inglês | MEDLINE | ID: mdl-29733816

RESUMO

The aims of this fMRI study were two-fold. The first objective of the study was to verify whether the findings associated with a previous fMRI study could be replicated in which a novel event-related experimental design was developed which rendered it possible to investigate the brain basis of creative conceptual expansion. The ability to widen the boundaries of conceptual structures is integral to creative idea generation, which makes conceptual expansion a core component of creative cognition. Creative conceptual expansion led to the engagement of brain regions that are known to be involved in the access, storage and relational integration of conceptual knowledge in the original study. These included the anterior inferior frontal gyrus, the temporal poles and the lateral frontal pole. These findings in relation to the brain basis of creative conceptual expansion were replicated in the current study. The second objective of this study was to evaluate the brain basis of individual differences in creative conceptual expansion. The high creative group relative to the low creative group was shown to exhibit greater activity in regions of the semantic cognition network as well as the salience network during creative conceptual expansion. The findings are discussed from the point of view of classical hypotheses about information processing biases that explain individual differences in creativity including flat associative hierarchies, defocused attention and cognitive disinhibition.


Assuntos
Mapeamento Encefálico , Encéfalo/diagnóstico por imagem , Cognição/fisiologia , Criatividade , Individualidade , Imageamento por Ressonância Magnética , Encéfalo/fisiologia , Feminino , Humanos , Processamento de Imagem Assistida por Computador , Masculino , Oxigênio/sangue , Semântica
15.
Hum Brain Mapp ; 37(11): 4197-4211, 2016 11.
Artigo em Inglês | MEDLINE | ID: mdl-27453527

RESUMO

The astounding capacity for the human imagination to be engaged across a wide range of contexts is limitless and fundamental to our day-to-day experiences. Although processes of imagination are central to human psychological function, they rarely occupy center stage in academic discourse or empirical study within psychological and neuroscientific realms. The aim of this paper is to tackle this imbalance by drawing together the multitudinous facets of imagination within a common framework. The processes fall into one of five categories depending on whether they are characterized as involving perceptual/motor related mental imagery, intentionality or recollective processing, novel combinatorial or generative processing, exceptional phenomenology in the aesthetic response, or altered psychological states which range from commonplace to dysfunctional. These proposed categories are defined on the basis of theoretical ideas from philosophy as well as empirical evidence from neuroscience. By synthesizing the findings across these domains of imagination, this novel five-part or quinquepartite classification of the human imagination aids in systematizing, and thereby abets, our understanding of the workings and neural foundations of the human imagination. It would serve as a blueprint to direct further advances in the field of imagination while also promoting crosstalk with reference to stimulus-oriented facets of information processing. A biologically and ecologically valid psychology is one that seeks to explain fundamental aspects of human nature. Given the ubiquitous nature of the imaginative operations in our daily lives, there can be little doubt that these quintessential aspects of the mind should be central to the discussion. Hum Brain Mapp 37:4197-4211, 2016. © 2016 Wiley Periodicals, Inc.


Assuntos
Encéfalo/fisiologia , Imaginação/fisiologia , Modelos Psicológicos , Humanos
17.
Brain Imaging Behav ; 10(2): 609-18, 2016 06.
Artigo em Inglês | MEDLINE | ID: mdl-26051636

RESUMO

The topic of gender differences in creativity is one that generates substantial scientific and public interest, but also courts considerable controversy. Owing to the heterogeneous nature of the findings associated with this line of research, the general picture often appears puzzling or obscure. This article presents a selective overview of psychological and neuroscientific literature that has a relevant bearing on the theme of gender and creativity. Topics that are explored include the definition and methods of assessing creativity, a summary of behavioral investigations on gender in relation to creativity, postulations that have been put forward to understand gender differences in creative achievement, gender-based differences in the structure and function of the brain, gender-related differences in behavioral performance on tasks of normative cognition, and neuroscientific studies of gender and creativity. The article ends with a detailed discussion of the idea that differences between men and women in creative cognition are best explained with reference to the gender-dependent adopted strategies or cognitive style when faced with generative tasks.


Assuntos
Cognição/fisiologia , Criatividade , Identidade de Gênero , Encéfalo/fisiologia , Humanos , Fatores Sexuais , Pensamento/fisiologia
18.
J Int Oral Health ; 7(8): 37-41, 2015 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-26464537

RESUMO

BACKGROUND: Endodontically treated teeth have significantly different physical and mechanical properties compared to vital teeth and are more prone to fracture. The study aims to compare the fracture resistance of endodontically treated teeth with and without post reinforcement, custom cast post-core and prefabricated post with glass ionomer core and to evaluate the ferrule effect on endodontically treated teeth restored with custom cast post-core. MATERIALS AND METHODS: A total of 40 human maxillary central incisors with similar dimensions devoid of any root caries, restorations, previous endodontic treatment or cracks were selected from a collection of stored extracted teeth. An initial silicone index of each tooth was made. They were treated endodontically and divided into four groups of ten specimens each. Their apical seal was maintained with 4 mm of gutta-percha. Root canal preparation was done and then post core fabrication was done. The prepared specimens were subjected to load testing using a computer coordinated UTM. The fracture load results were then statistically analyzed. One-way ANOVA was followed by paired t-test. RESULTS: 1. Reinforcement of endodontically treated maxillary central incisors with post and core, improved their fracture resistance to be at par with that of endodontically treated maxillary central incisor, with natural crown. 2. The fracture resistance of endodontically treated maxillary central incisors is significantly increased when restored with custom cast post-core and 2 mm ferrule. CONCLUSION: With 2 mm ferrule, teeth restored with custom cast post-core had a significantly higher fracture resistance than teeth restored with custom cast post-core or prefabricated post and glass ionomer core without ferrule.

19.
Front Psychol ; 6: 1055, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-26347665
20.
Front Psychol ; 6: 1218, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-26347685

RESUMO

Instrumental learning paradigms are rarely employed to investigate the mechanisms underlying acquired fear responses in social anxiety. Here, we adapted a probabilistic category learning paradigm to assess information processing biases as a function of the degree of social anxiety traits in a sample of healthy individuals without a diagnosis of social phobia. Participants were presented with three pairs of neutral faces with differing probabilistic accuracy contingencies (A/B: 80/20, C/D: 70/30, E/F: 60/40). Upon making their choice, negative and positive feedback was conveyed using angry and happy faces, respectively. The highly socially anxious group showed a strong tendency to be more accurate at learning the probability contingency associated with the most ambiguous stimulus pair (E/F: 60/40). Moreover, when pairing the most positively reinforced stimulus or the most negatively reinforced stimulus with all the other stimuli in a test phase, the highly socially anxious group avoided the most negatively reinforced stimulus significantly more than the control group. The results are discussed with reference to avoidance learning and hypersensitivity to negative socially evaluative information associated with social anxiety.

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