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1.
Artigo em Inglês | MEDLINE | ID: mdl-38818905

RESUMO

Central nervous system tumors are abnormal proliferations of neuronal cells within the brain and spinal cord. They can be primary or secondary and place a heavy financial, psychological, and physical burden on individuals. The highly selective blood-brain barrier, which only permits specific molecules to flow into the brain parenchyma, inhibits the efficacy of pharmacological medicines. Treatment options include surgery, chemoradiotherapy, and targeted therapy. Despite advances in therapy over the past few decades, the overall morbidity and mortality rates are still high, emphasizing the need for improved therapeutic choices to improve survival and quality of life further. Nano pharmaceuticals have demonstrated encouraging outcomes in in vivo trials using microscopic particles to enhance bioavailability and selectivity. The most successful clinical results to date have been achieved by liposomes, extracellular vesicles, and biomimetic nanoparticles; nevertheless, clinical trials are required to confirm their safety, efficacy, affordability, longterm impact, and success in patients from various demographics. Nano pharmaceuticals have the potential to change the paradigm of therapy for brain tumors, allowing better outcomes as primary and adjunctive therapy.

2.
CJC Pediatr Congenit Heart Dis ; 2(6Part B): 464-480, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-38205435

RESUMO

Congenital heart disease (CHD) is the most prevalent hereditary disorder, affecting approximately 1% of all live births. A reduction in morbidity and mortality has been achieved with advancements in surgical intervention, yet challenges in managing complications, extracardiac abnormalities, and comorbidities still exist. To address these, a more comprehensive understanding of the genetic basis underlying CHD is required to establish how certain variants are associated with the clinical outcomes. This will enable clinicians to provide personalized treatments by predicting the risk and prognosis, which might improve the therapeutic results and the patient's quality of life. We review how advancements in genome sequencing are changing our understanding of the genetic basis of CHD, discuss experimental approaches to determine the significance of novel variants, and identify barriers to use this knowledge in the clinics. Next-generation sequencing technologies are unravelling the role of oligogenic inheritance, epigenetic modification, genetic mosaicism, and noncoding variants in controlling the expression of candidate CHD-associated genes. However, clinical risk prediction based on these factors remains challenging. Therefore, studies involving human-induced pluripotent stem cells and single-cell sequencing help create preclinical frameworks for determining the significance of novel genetic variants. Clinicians should be aware of the benefits and implications of the responsible use of genomics. To facilitate and accelerate the clinical integration of these novel technologies, clinicians should actively engage in the latest scientific and technical developments to provide better, more personalized management plans for patients.


La cardiopathie congénitale (CC) est l'affection héréditaire la plus commune, soit environ 1 naissance vivante sur 100. Grâce aux progrès réalisés en chirurgie cardiaque, il a été possible de réduire la morbidité et la mortalité associées à la CC, mais les complications, les anomalies extracardiaques et les affections concomitantes demeurent préoccupantes. Dans ce contexte, il est nécessaire de mieux comprendre les fondements génétiques de la CC pour déterminer les variants qui sont à l'origine des complications cliniques. Les cliniciens pourront ainsi proposer des traitements personnalisés en tenant compte du risque et du pronostic dans l'espoir d'améliorer les résultats thérapeutiques et la qualité de vie des patients. Nous revenons ici sur les avancées réalisées dans le séquençage du génome et sur la façon dont elles ont changé notre compréhension des fondements génétiques de la CC. Nous décrivons les techniques expérimentales utilisées pour mettre au jour de nouveaux variants d'intérêt et présentons les obstacles qui empêchent d'utiliser ces connaissances en clinique. Les techniques de séquençage de nouvelle génération permettent de lever le voile sur le rôle de la transmission oligogénique, de la modification épigénétique, de la mosaïque génétique et des variants non codants dans la régulation de l'expression des gènes candidats associés à la CC. La prédiction du risque clinique en fonction de ces facteurs demeure toutefois hasardeuse. Les études sur les cellules souches pluripotentes induites et le séquençage unicellulaire aident à établir le cadre préclinique nécessaire pour déterminer l'importance des nouveaux variants génétiques. Les cliniciens doivent être conscients des bienfaits et de la portée que peut avoir la génomique lorsqu'elle est utilisée de façon responsable. Pour faciliter et accélérer l'intégration clinique de ces nouvelles technologies, les cliniciens doivent s'intéresser de près aux derniers développements scientifiques et techniques s'ils veulent un jour proposer à leurs patients un plan de traitement plus pertinent et plus personnalisé.

3.
Psychol Rep ; 125(6): 3006-3027, 2022 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-34412543

RESUMO

BACKGROUND: Since the COVID-19 outbreak was declared a global pandemic, public health messages have emphasised the importance of frequent handwashing in limiting the transmission of the virus. Whilst crucial in controlling transmission, such messaging may have an adverse effect on individuals with OCD. METHODS: A cross-sectional study was conducted, with a total of 332 participants recruited. Participants who scored above the optimal cut-off score on the Obsessive-Compulsive Inventory Revised edition (OCI-R) were included in the analysis (n = 254). Scores on the six subscales of the OCI-R were correlated with responses to a COVID-19 Impact measure. RESULTS: Factor analysis of the COVID-19 Impact measure revealed that items loaded on two components of the measure (handwashing and distress-avoidance). Canonical correlation analyses revealed significant associations between the OCI-R subscales and COVID-19 Impact measure, F (12, 490) = 8.14, p = 0.001, and the SHAI subscales with the COVID-19 Impact Measure, F (4, 498) = 8.18, p = 0.001). Specifically, washing and checking OCI-R subscales correlated with both components of the COVID-19 Impact measure, as did the health anxiety and beliefs SHAI subscales. Content analysis revealed disruption to treatment delivery and worsening symptom severity in participants with contamination-related OCD. DISCUSSION: Contamination and checking OCD subtypes have been associated with increased hand-washing behaviour and avoidance of distress-inducing cues. Consideration should be given to targeted support tailored to patients with these subtypes of OCD.


Assuntos
COVID-19 , Transtorno Obsessivo-Compulsivo , Ansiedade/diagnóstico , Estudos Transversais , Humanos , Transtorno Obsessivo-Compulsivo/diagnóstico , Transtorno Obsessivo-Compulsivo/epidemiologia , Pandemias , Psicometria , Reprodutibilidade dos Testes , Inquéritos e Questionários
4.
Adv Med Educ Pract ; 13: 993-1002, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36072821

RESUMO

Introduction: Conferences are an important avenue for dissemination of knowledge, research and provide networking opportunities for career development. The COVID-19 pandemic has prompted adoption of virtual platforms for delivery of these conferences. The aim of the study was to determine the utility and educational impact of a student-led virtual webinar to deliver an undergraduate cardiovascular conference compared to a traditional in-person conference. Methods: We conducted a two-day virtual conference using the Zoom platform in June 2021. The conference consisted of cardiology subspecialty lectures, and workshops were conducted by a junior doctor, senior cardiology trainees and consultants. The conference also outlaid a virtual poster hall and oral presentation session while networking opportunities were encouraged using breakout rooms and poster hall chat function. A 38-item self-administered online questionnaire was designed and disseminated at the end of the conference to all attending delegates. All data analysis and data visualisation strategies were conducted on R statistical programming. Results: Eight-hundred and forty students from 55 countries attended the event. Four hundred and ninety participants (58.5% response rate, 55.9% female) completed the questionnaire. Factors such as weekend conference (84.9%), student-led or organised (84.1%), environmental/sustainable (82.3%), appropriate level for me (81.5%) and comfort to present (80.8%) were deemed to be at least equal to traditional in-person conference. The conference also increased participants' interest, their core cardiology knowledge and improved their critical analysis and basic echocardiography skills [median 4 (IQR 3-5) for all parameters]. Overall, participants also found it easy to use the virtual platform [median 5 (IQR 5-5)] and easier to ask questions compared to in-person conferences [median 5 (IQR 4-5) vs median 4 (IQR 3-5), p < 0.001]. Conclusion: Our virtual conference provided opportunities to students that the COVID-19 pandemic would have otherwise affected; however, its utility and educational impact will need to be assessed within its individual context of delivery.

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