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1.
Rev Colomb Psiquiatr (Engl Ed) ; 52(4): 305-313, 2023.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-38065663

RESUMO

INTRODUCTION: Mild Cognitive Impairment (MCI) is common in Parkinson's Disease (PD). Few studies have compared the Health-Related Quality of Life (HRQoL) in patients with and without MCI due to PD (PD-MCI), and its correlation to patients' subjective cognitive and communicative difficulties has not been explored. OBJECTIVE: We aimed to compare HRQoL in PD-MCI and PD without MCI (PD-nMCI), and explore its possible relationship to subjective cognitive and communicative complaints. METHODS: We included 29 PD-nMCI and 11 PD-MCI patients. The HRQoL was assessed with the Parkinson's Disease Questionnaire-39 (PDQ-39): its Cognition dimension was used as a measure of subjective cognitive complaints, its Communication dimension for subjective communicative complaints, and the summary index (PDQ-39 SI) as an indicator of HRQoL. Non-parametric partial correlations between the Cognition and Communication dimensions, and the adjusted PDQ-39 SI were conducted. RESULTS: PD-MCI patients had greater subjective cognitive and communicative complaints and worse HRQoL than PD-nMCI patients. In the PD-MCI group, both subjective cognitive and communicative complaints exhibited significant direct correlations with the adjusted HRQoL scores. CONCLUSIONS: HRQoL seems to be affected in PD-MCI, and it might be influenced by greater subjective cognitive and communicative complaints. Including patient-reported outcome measures of HRQoL, and providing cognitive and speech rehabilitation, as well as psychotherapeutic strategies to face these deficits can enhance the patient-centred approach in PD.


Assuntos
Disfunção Cognitiva , Doença de Parkinson , Humanos , Doença de Parkinson/complicações , Doença de Parkinson/psicologia , Qualidade de Vida/psicologia , Testes Neuropsicológicos , Disfunção Cognitiva/etiologia , Cognição , Comunicação
3.
Acad Emerg Med ; 2023 Jun 16.
Artigo em Inglês | MEDLINE | ID: mdl-37326129

RESUMO

OBJECTIVE: Alcohol use disorder (AUD) is a leading cause of preventable death and is a frequent diagnosis in the emergency department (ED). Treatment in the ED, however, typically focuses on managing the sequelae of AUD, such as acute withdrawal, rather than addressing the underlying addiction. For many patients, these ED encounters are a missed opportunity to connect with medication for AUD. In 2020, our ED created a pathway to offer patients with AUD treatment with naltrexone (NTX) during their ED visit. The aim of this study was to identify what barriers and facilitators patients perceive to NTX initiation in the ED. METHODS: Adopting the theoretical framework of the behavior change wheel (BCW), we conducted qualitative interviews with patients to elicit their perspectives on ED initiation of NTX. Interviews were coded and analyzed using both inductive and deductive approaches. Themes were categorized according to patients' capabilities, opportunities, and motivations. Barriers were then mapped through the BCW to design interventions that will improve our treatment pathway. RESULTS: Twenty-eight patients with AUD were interviewed. Facilitators of accepting NTX included having recently experienced sequelae of AUD, rapid management of withdrawal symptoms by the ED provider, having a choice between intramuscular and oral formulations of the medication, and experiencing positive interactions in the ED that destigmatized the patient's AUD. Barriers to accepting treatment included lack of provider knowledge about NTX, dependence on alcohol as self-treatment for psychiatric trauma and physical pain, perceived discriminatory treatment and stigma about AUD, aversion to potential side effects, and lack of access to continued treatment. CONCLUSIONS: Initiation of treatment of AUD with NTX in the ED is acceptable to patients and can be facilitated by knowledgeable ED providers who create a destigmatizing environment, effectively manage withdrawal symptoms, and connect patients to providers who will continue treatment.

4.
Clin Neurophysiol ; 151: 28-40, 2023 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-37146531

RESUMO

OBJECTIVE: This study aims 1) To analyse differences in resting-state electroencephalogram (rs-EEG) spectral features of Parkinson's Disease (PD) and healthy subjects (non-PD) using Functional Data Analysis (FDA) and 2) To explore, in four independent cohorts, the external validity and reproducibility of the findings using both epoch-to-epoch FDA and averaged-epochs approach. METHODS: We included 169 subjects (85 non-PD; 84 PD) from four centres. Rs-EEG signals were preprocessed with a combination of automated pipelines. Sensor-level relative power spectral density (PSD), dominant frequency (DF), and DF variability (DFV) features were extracted. Differences in each feature were compared between PD and non-PD on averaged epochs and using FDA to model the epoch-to-epoch change of each feature. RESULTS: For averaged epochs, significantly higher theta relative PSD in PD was found across all datasets. Also, higher pre-alpha relative PSD was observed in three of four datasets in PD patients. For FDA, similar findings were achieved in theta, but all datasets showed consistently significant posterior pre-alpha differences across multiple epochs. CONCLUSIONS: Increased generalised theta, with posterior pre-alpha relative PSD, was the most reproducible finding in PD. SIGNIFICANCE: Rs-EEG theta and pre-alpha findings are generalisable in PD. FDA constitutes a reliable and powerful tool to analyse epoch-to-epoch the rs-EEG.


Assuntos
Doença de Parkinson , Humanos , Doença de Parkinson/diagnóstico , Reprodutibilidade dos Testes , Eletroencefalografia
5.
Behav Sci (Basel) ; 13(5)2023 May 05.
Artigo em Inglês | MEDLINE | ID: mdl-37232619

RESUMO

University dropout is a problem that has raised great concern in institutions of higher education. For this reason, academic institutions need to study the phenomenon and come up with alternatives that contribute to the improvement of students' individual commitments. The aim is to examine the dimensions influencing the decision of university students to drop out. A quantitative approach study was carried out, based on a cross-sectional exploratory-descriptive field design, in which 372 students participated. According to the participants, one of the dimensions that influence the decision to leave the university is the support of the institutions to the continuity of the motivation processes to the student body, since the easy access to the credits is greater than the scholarships granted, which coincides with the financing restrictions of university students in developing countries. In conclusion, it is observed that the communication between managers, teachers, and students is a key factor in the processes of academic retention as a strategy to combat the phenomenon of university desertion.

6.
Healthcare (Basel) ; 11(10)2023 May 11.
Artigo em Inglês | MEDLINE | ID: mdl-37239678

RESUMO

The present work describes the development of a conceptual representation model of the domain of the theory of formal grammars and abstract machines through ontological modeling. The main goal is to develop an ontology capable of deriving new knowledge about the mood of an Alzheimer's patient in the categories of wandering, nervous, depressed, disoriented or bored. The patients are from elderly care centers in Ambato Canton-Ecuador. The population consists of 147 individuals of both sexes, diagnosed with Alzheimer's disease, with ages ranging from 75 to 89 years. The methods used are the taxonomic levels, the semantic categories and the ontological primitives. All these aspects allow the computational generation of an ontological structure, in addition to the use of the proprietary tool Pellet Reasoner as well as Apache NetBeans from Java for process completion. As a result, an ontological model is generated using its instances and Pellet Reasoner to identify the expected effect. It is noted that the ontologies come from the artificial intelligence domain. In this case, they are represented by aspects of real-world context that relate to common vocabularies for humans and applications working in a domain or area of interest.

7.
F1000Res ; 12: 1415, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-38288260

RESUMO

Background: Photobiomodulation (PBM) involves laser therapy utilized in medical sciences to modulate biological processes acting as a palliative and immune response-enhancing treatment. This study conducts a comprehensive bibliometric analysis to explore current trends in PBM-related scientific production, encompassing publications, citations, impact, keywords and clusters. Additionally, it aims to predict future research trends in this domain. Methods: The data for this quantitative and qualitative bibliometric analysis were obtained from 608 scientific documents retrieved in November 2022, with 123 sourced from Web of Science and 485 from Scopus, Utilizing Excel, the data was processed in Excel to extract essencial information. Productivity and impact were evaluated for eligibility, and VOSviewer aided in determining associativity for the bibliometric analysis. Results: The findings of this study demostrate that the scientific production related to PBM adheres to a growth power law, exhibiting characteristics of both exponential and linear phases. Notably, recent research trends emphasize critical concepts such as laser therapy, orthodontics, and dental pulp stem cells. Particularly significant is the burgeoning interest in utilizing PBM within dentistry as a complementary alternative to existing protocols. Conclusions: PBM stands as a promising laser therapy within medical applications. Through a detailed bibliometric analysis, this study underscores the increasing significance of PBM, especially within the realm of dental treatments. These insights offer a glimpse into the evolving landscape of PBM research and provide valuable guidance for potential future directions of study.


Assuntos
Terapia com Luz de Baixa Intensidade , Terapia com Luz de Baixa Intensidade/métodos , Bibliometria , Odontologia
9.
Med Sci Educ ; 32(5): 1209-1218, 2022 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-36276759

RESUMO

Objective: Additive manufacturing has played an increasingly important role in the field of health care. One of the most recent applications has been the development of 3D printed anatomical models specifically to improve student education. The purpose of this review was to assess the potential for 3D printed models to improve understanding of complex anatomy in undergraduate and medical/professional students. Methods: A systematic review was performed to investigate the different implementations of 3D printed anatomical models in educational curricula. In addition, a meta-analysis was conducted to assess the differences in comprehension between students who received 3D printed models as part of their instruction and those taught with traditional methods. Results: Of the 10 groups included in the meta-analysis, students whose educational experience included a 3D printed model scored roughly 11% better on objective assessments compared to students who did not use such models (Hedge's g = 0.742, p < 0.001). Conclusion: Based on these findings, the use of 3D printed anatomical models as a method of education is likely to improve students' understanding of complex anatomical structures.

10.
Ann Transl Med ; 10(7): 391, 2022 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-35530954

RESUMO

Background: Acetabular fractures account for 10% of pelvis injuries, which are especially difficult to treat in developing countries with less access to resources. 3D printing has previously been shown to be a beneficial method of surgical planning, however the steep initial costs associated with purchasing a 3D printer may prevent some facilities form utilizing this technique. The purpose of this study was to develop 3D printed models for acetabular surgery using methodologies of varying cost to determine differences in model accuracy and overall quality. Methods: Five acetabular fracture models were developed from de-identified CT data using (I) proprietary and open-source segmentation software and (II) fused deposition modeling (FDM) and stereolithography (SLA) 3D printing methods. The distance between the posterior inferior iliac spine (PIIS) and the ischial spine as well as a unique fracture fragment for each model was compared between the different printing methodologies. The models were then given to 5 physicians and assessed on their overall accuracy compared to traditional 2D images. Results: Printing methodology did not affect the distance from PIIS to ischial spine (P=0.263). However, fracture fragment representation differed across 3D printed models, with the most accurate model produced by the high-end resin-based printer (P=0.007). The survey analysis showed that the low-cost printing methods produced models that were not as accurate in their representation of the fractured region (P=0.008). Conclusions: The differences between models developed using traditional methods and low-cost methods have slight differences but may still provide useful information when developing a surgical plan.

11.
Acta neurol. colomb ; 38(1): 23-38, ene.-mar. 2022. tab, graf
Artigo em Espanhol | LILACS | ID: biblio-1374128

RESUMO

RESUMEN INTRODUCCIÓN: El trauma craneoencefálico (TCE) es una de las principales causas de daño cerebral y discapacidad en personas menores de 40 años. Según su severidad, se puede clasificar en leve, moderado o grave, en función de la escala de coma de Glasgow. Muchos pacientes quedan con secuelas neuropsicológicas y comportamentales que pueden afectar en mayor o menor grado su funcionalidad. El objetivo del estudio fue determinar las diferencias en el perfil neuropsicológico, las características clínicas y el compromiso funcional en pacientes con TCE según la clasificación de la severidad. METODOLOGÍA: Se realizó un estudio observacional, analítico, de corte transversal. Se revisaron las historias clínicas y los reportes neuropsicológicos de adultos con TCE evaluados por neuropsicología entre los años 2014 y 2019. Se compararon los resultados de pruebas neuropsicológicas, síndromes neuropsicológicos y funcionalidad según la severidad del TCE. RESULTADOS: Se estudiaron 48 pacientes, 38 de ellos hombres (73 %), con una mediana de edad de 35 años (RI: 25-51). En 14 casos el TCE fue leve, en 18 moderado y en 16 severo. El síndrome neuropsicológico más frente fue el amnésico (100 %), seguido del disejecutivo (79 %) y el compromiso en la atención (77 %). No se encontraron diferencias según severidad del TCE. Cuarenta y un pacientes (85 %) presentaron cambios comportamentales, 14 (29 %) experimentaron alteración en las actividades básicas de la vida diaria y 32 (68 %) en las actividades instrumentales. CONCLUSIONES: Las alteraciones neuropsicológicas, comportamentales y funcionales posteriores a un TCE son frecuentes, sin embargo, no se encontraron diferencias significativas según severidad del trauma.


ABSTRACT INTRODUCTION: Traumatic Brain Injury (TBI) is one of the main causes of brain damage and disability in people under 40 years of age. The severity of TBI can be classified as mild, moderate, or severe based on the Glasgow coma scale. Many patients are left with neuropsychological and behavioral sequelae that can affect functionality to a greater or lesser degree. The objective of the study was to determine the differences in the neuropsychological profile, clinical characteristics and functional impairment in patients with TBI according to severity. METHODOLOGY: An observational, analytical, cross-sectional study was carried out. The clinical records and neuropsychological reports of adults with TBI evaluated between 2014 and 2019 were reviewed. The results of neuropsychological tests, neuropsychological syndromes, and functionality according to severity of TBI were compared. RESULTS: 48 patients were studied, 35 were males (73 %), the median age was 35 years (IR: 25-51). In 14 TBI was mild, in 18 moderate and 16 severe. The most common neuropsychological syndrome was amnesic (100 %) followed by dysexecutive (79 %) and attentional commitment (77 %). No differences were found according to severity of TBI. 41 patients (85 %) presented behavioral changes, 14 (29 %) presented alteration in basic activities of daily life and 32 (68 %) in instrumental activities. CONCLUSIONS: Neuropsychological, behavioral and functional alterations are frequent after TBI; however, no significant differences were found according to the severity of the trauma.


Assuntos
Humanos , Masculino , Feminino , Adulto , Pessoa de Meia-Idade , Adulto Jovem , Cognição , Lesões Encefálicas Traumáticas/psicologia , Índices de Gravidade do Trauma , Estudos Transversais , Colômbia , Lesões Encefálicas Traumáticas/fisiopatologia , Testes de Estado Mental e Demência
12.
Eur J Surg Oncol ; 48(4): 768-775, 2022 04.
Artigo em Inglês | MEDLINE | ID: mdl-34753620

RESUMO

BACKGROUND: The concept of textbook outcome (TO) has been proposed for analyzing quality of surgical care. This study assessed the incidence of TO among patients undergoing curative gastric cancer resection, predictors for TO achievement, and the association of TO with survival. METHOD: All patients with gastric and gastroesophageal junction cancers undergoing curative gastrectomy between January 2014-December 2017 were identified from a population-based database (Spanish EURECCA Registry). TO included: macroscopically complete resection at the time of operation, R0 resection, ≥15 lymph nodes removed and examined, no serious postoperative complications (Clavien-Dindo ≥II), no re-intervention, hospital stay ≤14 days, no 30-day readmissions and no 90-day mortality. Logistic regression was used to assess the adjusted achievement of TO. Cox survival regression was used to compare conditional adjusted survival across groups. RESULTS: In total, 1293 patients were included, and TO was achieved in 541 patients (41.1%). Among the criteria, "macroscopically complete resection" had the highest compliance (96.5%) while "no serious complications" had the lowest compliance (63.7%). Age (OR 0.53 for the 65-74 years and OR 0.34 for the ≥75 years age group), Charlson comorbidity index ≥3 (OR 0.53, 95%CI 0.34-0.82), neoadjuvant chemoradiotherapy (OR 0.24, 95%CI 0.08-0.70), multivisceral resection (OR 0.55, 95%CI 0.33-0.91), and surgery performed in a community hospital (OR 0.65, CI95% 0.46-0.91) were independently associated with not achieving TO. TO was independently associated with conditional survival (HR 0.67, 95%CI 0.55-0.83). CONCLUSION: TO was achieved in 41.1% of patients who underwent gastric cancer resection with curative intent and was associated with longer survival.


Assuntos
Neoplasias Esofágicas , Neoplasias Gástricas , Idoso , Neoplasias Esofágicas/cirurgia , Esofagectomia , Junção Esofagogástrica/patologia , Junção Esofagogástrica/cirurgia , Gastrectomia , Humanos , Estudos Retrospectivos , Neoplasias Gástricas/patologia , Análise de Sobrevida
13.
Rev. cuba. med. mil ; 51(3): e2097, 2022. tab
Artigo em Espanhol | LILACS-Express | LILACS | ID: biblio-1408847

RESUMO

RESUMEN Introducción: En la patología del síndrome metabólico, de acuerdo con distintas investigaciones y la práctica clínica se han visto manifestaciones de daño hepático. Objetivo: Estimar la prevalencia de transaminasas elevadas (alanina aminotransaminasa y aspartato aminotransaminasa) y determinar su asociación con síndrome metabólico. Métodos: Estudio transversal con procedimientos analíticos. Análisis secundario de los datos generados por el registro electrónico en salud de un policlínico ocupacional. La variable principal fue el diagnóstico del síndrome metabólico. Para definir aspartato aminotransaminasa elevada se consideraron valores > 30 U/L en mujeres y valores > 36 U/L en hombres. Para alanina aminotransaminasa, se consideraron valores > 30 U/L en mujeres y valores > 40 U/L en hombres. Resultados: La prevalencia de síndrome metabólico fue de 21,82 %, de aspartato aminotransaminasa elevada fue del 10,30 % y alanina aminotransaminasa elevada del 16,67 %. En la regresión múltiple, se ajustó por las covariables confusoras sexo, edad, ocupación, índice de masa corporal, fumar, alcohol y actividad física. Se observó que los pacientes con aspartato aminotransaminasa elevada tenían 128 % mayor frecuencia de síndrome metabólico, respecto a quienes no presentaban valores elevados (razón prevalencia= 2,28; IC95 %: 1,64 - 3,17; p< 0,001). Se encontró que los pacientes con alanina aminotransaminasa elevada tenían 148 % mayor frecuencia de presentar síndrome metabólico respecto a quienes no presentaban valores elevados (razón prevalencia= 2,48; IC95 %: 1,77 - 3,47; p< 0,001). Conclusiones: Existe asociación entre las transaminasas hepáticas elevadas y la presencia de síndrome metabólico.


ABSTRACT Introduction: In the pathology of metabolic syndrome, manifestations of liver damage have been seen in different investigations and in clinical practice. Objective: To estimate the prevalence of elevated transaminases (alanine aminotransaminase and aspartate aminotransaminase), and to determine their association with metabolic syndrome. Methods: Cross-sectional with analytical procedure study. Secondary analysis of data generated by the electronic health record of an occupational polyclinic. The main variable was the diagnosis of metabolic syndrome. To define elevated aspartate aminotransaminase, values > 30 U/L in women and values > 36 U/L in men were considered. For alanine aminotransaminase, values > 30 U/L in women and values > 40 U/L in men were considered. Results: The prevalence of metabolic syndrome was 21.82%, elevated aspartate aminotransaminase was 10.30% and elevated alanine aminotransaminase was 16.67%. In multiple regression, we adjusted for the confounding covariates of sex, age, occupation, body mass index, smoking, alcohol and physical activity. It was observed that patients with elevated aspartate aminotransaminase had a 128% higher frequency of presenting metabolic syndrome, compared to those without elevated values (reason prevalence= 2.28; 95% CI: 1.64-3.17; p< 0.001). On the other hand, it was found that patients with elevated alanine aminotransaminase had a 148% higher frequency of presenting metabolic syndrome compared to those without elevated values (reason prevalence= 2.48; 95% CI: 1.77 - 3.47; p< 0.001). Conclusions: There is an association between elevated hepatic transaminases and the presence of metabolic syndrome.

14.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-34489098

RESUMO

INTRODUCTION: Mild Cognitive Impairment (MCI) is common in Parkinson's Disease (PD). Few studies have compared the Health-Related Quality of Life (HRQoL) in patients with and without MCI due to PD (PD-MCI), and its correlation to patients' subjective cognitive and communicative difficulties has not been explored. OBJECTIVE: We aimed to compare HRQoL in PD-MCI and PD without MCI (PD-nMCI), and explore its possible relationship to subjective cognitive and communicative complaints. METHODS: We included 29 PD-nMCI and 11 PD-MCI patients. The HRQoL was assessed with the Parkinson's Disease Questionnaire-39 (PDQ-39): its Cognition dimension was used as a measure of subjective cognitive complaints, its Communication dimension for subjective communicative complaints, and the summary index (PDQ-39 SI) as an indicator of HRQoL. Non-parametric partial correlations between the Cognition and Communication dimensions, and the adjusted PDQ-39 SI were conducted. RESULTS: PD-MCI patients had greater subjective cognitive and communicative complaints and worse HRQoL than PD-nMCI patients. In the PD-MCI group, both subjective cognitive and communicative complaints exhibited significant direct correlations with the adjusted HRQoL scores. CONCLUSIONS: HRQoL seems to be affected in PD-MCI, and it might be influenced by greater subjective cognitive and communicative complaints. Including patient-reported outcome measures of HRQoL, and providing cognitive and speech rehabilitation, as well as psychotherapeutic strategies to face these deficits can enhance the patient-centred approach in PD.

15.
Front Cardiovasc Med ; 8: 676694, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34179142

RESUMO

Background: Heart failure occurs in ~10% of patients with acute rheumatic fever (RF), and several studies have shown that cardiac decompensation in RF results primarily from valvular disease and is not due to primary myocarditis. However, the literature on this topic is scarce, and a recent case series has shown that recurrent RF can cause ventricular dysfunction even in the absence of valvular heart disease. Methods: The present study evaluated the clinical, laboratory and imaging characteristics of 25 consecutive patients with a clinical diagnosis of myocarditis confirmed by 18F-FDG PET/CT or gallium-67 cardiac scintigraphy and RF reactivation according to the revised Jones Criteria. Patients underwent three sequential echocardiograms at (1) baseline, (2) during myocarditis and (3) post corticosteroid treatment. Patients were divided according to the presence (Group 1) or absence (Group 2) of reduced left ventricular ejection fraction (LVEF) during myocarditis episodes. Results: The median age was 42 (17-51) years, 64% of patients were older than 40 years, and 64% were women. Between Group 1 (n = 16) and in Group 2 (n = 9), there were no demographic, echocardiographic or laboratory differences except for NYHA III/IV heart failure (Group 1: 100.0% vs. Group 2: 50.0%; p = 0.012) and LVEF (30 [25-37] vs. 56 [49-62]%, respectively; p < 0.001), as expected. Group 1 patients showed a significant reduction in LVEF during carditis with further improvement after treatment. There was no correlation between LVEF and valvular dysfunction during myocarditis. Among all patients, 19 (76%) underwent 18F-FDG PET/CT, with a positive scan in 68.4%, and 21 (84%) underwent gallium-67 cardiac scintigraphy, with positive uptake in 95.2%, there was no difference between these groups. Conclusion: Myocarditis due to rheumatic fever reactivation can cause left ventricular dysfunction despite valvular disease, and it is reversible after corticosteroid treatment.

16.
Pharmgenomics Pers Med ; 14: 287-299, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33688237

RESUMO

BACKGROUND: Adverse drug reactions (ADRs) are frequent occurring events that can essentially be defined as harmful or unpleasant symptoms secondary to the use of a medicinal product. ADRs involve a wide spectrum of clinical manifestations ranging from minor itching and rash to life-threatening reactions. Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) are rare ADRs. SJS-TEN may be considered a polygenic pathology due to additive/epistatic effects caused by sequence variants in numerous genes. Next-generation sequencing (NGS) represents a potentially interesting exploration tool in such scenario as it facilitates the simultaneous analysis of large genomic regions and genes at affordable cost. METHODS: The present study has involved using whole-exome sequencing (WES) for the first time on SJS-TEN patients. It involved robust and innovative multistep bioinformatics analysis focusing on 313 candidate genes potentially participating in the disease's aetiology, specific drugs' metabolism and gene regulation. RESULTS: We identified combinations of frequently occurring and rare variants that may contribute to the disease's pathogenesis. Depending on the specific drug being taken, different variants (and alleles) in NAT2, CYP2D8, CYP2B6, ABCC2, UGT2B7 and TCF3 were identified as coherent candidates representing potential future markers for SJS-TEN. CONCLUSION: The present study proposed and has described (for the first time) a large-scale genomic analysis of patients affected by SJS-TEN. The genes and variants identified represent relevant candidates potentially participating in the disease's pathogenesis. Corroborating that proposed by others, we found that complex combinations of frequently occurring and rare variants participating in particular drug metabolism molecular cascades could be associated with the phenotype. TCF3 TF may be considered a coherent candidate for SJS-TEN that should be analysed in new cohorts of patients having ADRs.

17.
Clin Neurophysiol ; 132(3): 756-764, 2021 03.
Artigo em Inglês | MEDLINE | ID: mdl-33571883

RESUMO

OBJECTIVE: To determine possible associations of hemispheric-regional alpha/theta ratio (α/θ) with neuropsychological test performance in Parkinson's Disease (PD) non-demented patients. METHODS: 36 PD were matched to 36 Healthy Controls (HC). The α/θ in eight hemispheric regions was computed from the relative power spectral density of the resting-state quantitative electroencephalogram (qEEG). Correlations between α/θ and performance in several neuropsychological tests were conducted, significant findings were included in a moderation analysis. RESULTS: The α/θ in all regions was lower in PD than in HC, with larger effect sizes in the posterior regions. Right parietal, and right and left occipital α/θ had significant positive correlations with performance in Judgement of Line Orientation Test (JLOT) in PD. Adjusted moderation analysis indicated that right, but not left, occipital α/θ influenced the JLOT performance related to PD. CONCLUSIONS: Reduction of the occipital α/θ, in particular on the right side, was associated with visuospatial performance impairment in PD. SIGNIFICANCE: Visuospatial impairment in PD, which is highly correlated with the subsequent development of dementia, is reflected in α/θ in the right posterior regions. The right occipital α/θ may represent a useful qEEG marker for evaluating the presence of early signs of cognitive decline in PD and the subsequent risk of dementia.


Assuntos
Ritmo alfa/fisiologia , Testes Neuropsicológicos , Doença de Parkinson/fisiopatologia , Doença de Parkinson/psicologia , Descanso/fisiologia , Ritmo Teta/fisiologia , Idoso , Disfunção Cognitiva/diagnóstico , Disfunção Cognitiva/fisiopatologia , Disfunção Cognitiva/psicologia , Estudos Transversais , Eletroencefalografia/métodos , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Lobo Occipital/fisiopatologia , Doença de Parkinson/diagnóstico , Descanso/psicologia
18.
J Neuroeng Rehabil ; 18(1): 24, 2021 02 03.
Artigo em Inglês | MEDLINE | ID: mdl-33536034

RESUMO

BACKGROUND: The purpose of the current study was to determine the influence of upper-limb prostheses on brain activity and gross dexterity in children with congenital unilateral upper-limb reduction deficiencies (ULD) compared to typically developing children (TD). METHODS: Five children with ULD (3 boys, 2 girls, 8.76 ± 3.37 years of age) and five age- and sex-matched TD children (3 boys, 2 girls, 8.96 ± 3.23 years of age) performed a gross manual dexterity task (Box and Block Test) while measuring brain activity (functional near-infrared spectroscopy; fNIRS). RESULTS: There were no significant differences (p = 0.948) in gross dexterity performance between the ULD group with prosthesis (7.23 ± 3.37 blocks per minute) and TD group with the prosthetic simulator (7.63 ± 5.61 blocks per minute). However, there was a significant (p = 0.001) difference in Laterality Index (LI) between the ULD group with prosthesis (LI = - 0.2888 ± 0.0205) and TD group with simulator (LI = 0.0504 ± 0.0296) showing in a significant ipsilateral control for the ULD group. Thus, the major finding of the present investigation was that children with ULD, unlike the control group, showed significant activation in the ipsilateral motor cortex on the non-preferred side using a prosthesis during a gross manual dexterity task. CONCLUSIONS: This ipsilateral response may be a compensation strategy in which the existing cortical representations of the non-affected (preferred) side are been used by the affected (non-preferred) side to operate the prosthesis. This study is the first to report altered lateralization in children with ULD while using a prosthesis. Trial registration The clinical trial (ClinicalTrial.gov ID: NCT04110730 and unique protocol ID: IRB # 614-16-FB) was registered on October 1, 2019 ( https://clinicaltrials.gov/ct2/show/NCT04110730 ) and posted on October 1, 2019. The study start date was January 10, 2020. The first participant was enrolled on January 14, 2020, and the trial is scheduled to be completed by August 23, 2023. The trial was updated January 18, 2020 and is currently recruiting.


Assuntos
Membros Artificiais , Lateralidade Funcional/fisiologia , Córtex Motor/fisiologia , Córtex Motor/fisiopatologia , Destreza Motora/fisiologia , Deformidades Congênitas das Extremidades Superiores/fisiopatologia , Criança , Feminino , Humanos , Masculino
20.
PLoS One ; 15(10): e0240467, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-33057385

RESUMO

AIM: Acanthosis nigricans (AN) is a strong correlate of obesity and is considered a marker of insulin resistance (IR). AN is associated with various other cardiometabolic risk factors (CMRFs). However, the direct causal relationship of IR with AN in obesity has been debated. Therefore, we aimed to examine the complex causal relationships among the troika of AN, obesity, and IR in Mexican Americans (MAs). METHODS: We used data from 670 non-diabetic MA children, aged 6-17 years (49% girls). AN (prevalence 33%) severity scores (range 0-5) were used as a quasi-quantitative trait (AN-q) for analysis. We used the program SOLAR for determining phenotypic, genetic, and environmental correlations between AN-q and CMRFs (e.g., BMI, HOMA-IR, lipids, blood pressure, hs-C-reactive protein (CRP), and Harvard physical fitness score (PFS)). The genetic and environmental correlations were subsequently used in mediation analysis (AMOS program). Model comparisons were made using goodness-of-fit indexes. RESULTS: Heritability of AN-q was 0.75 (p<0.0001). It was positively/significantly (p<0.05) correlated with traits such as BMI, HOMA-IR, and CRP, and negatively with HDL-C and PFS. Of the models tested, indirect mediation analysis of BMI→HOMA-IR→AN-q yielded lower goodness-of-fit than a partial mediation model where BMI explained the relationship with both HOMA-IR and AN-q simultaneously. Using complex models, BMI was associated with AN-q and IR mediating most of the CMRFs; but no relationship between IR and AN-q. CONCLUSION: Our study suggests that obesity explains the association of IR with AN, but no causal relationship between IR and AN in Mexican American children.


Assuntos
Acantose Nigricans/fisiopatologia , Doenças Cardiovasculares/etiologia , Resistência à Insulina , Síndrome Metabólica/etiologia , Americanos Mexicanos/estatística & dados numéricos , Obesidade/epidemiologia , Adolescente , Biomarcadores/metabolismo , Doenças Cardiovasculares/metabolismo , Doenças Cardiovasculares/patologia , Criança , Feminino , Humanos , Incidência , Masculino , Síndrome Metabólica/metabolismo , Síndrome Metabólica/patologia , Obesidade/complicações , Estados Unidos/epidemiologia
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