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1.
J Phys Chem A ; 2024 May 06.
Artigo em Inglês | MEDLINE | ID: mdl-38709949

RESUMO

The recent discovery of the nature and behavior of carbon atoms interacting with interstellar ices has prompted a number of investigations on the chemistry initiated by carbon accretion on icy interstellar dust. In this work, we expand the range of processes promoted by carbon accretion to the chemistry initiated by the interaction of this atom with ammonia (NH3) using quantum chemical calculations. We found that carbon addition to the ammonia molecule forms a rather stable radical, CNH3, that is easily hydrogenated. The complete hydrogenation network is later studied. Our calculations reveal that while conversion to simpler molecules like HCN and HNC is indeed a possible outcome promoted by H-abstraction reactions, methylamine is also easily formed (CH3NH2). In fact, the stability of methylamine against hydrogen abstraction makes this molecule the preferred product of the reaction network. Our results serve as a stepping stone toward the accurate modeling of C-addition reactions in realistic astrochemical kinetic models.

2.
Neurol Sci ; 45(3): 1007-1016, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-37853291

RESUMO

BACKGROUND: Transition from child-centered to adult-centered healthcare is a gradual process that addresses the medical, psychological, and educational needs of young people in the management of their autonomy in making decisions about their health and their future clinical assistance. This transfer is challenging across all chronic diseases but can be particularly arduous in rare neurological conditions. AIM: To describe the current practice on the transition process for young patients in centers participating in the European Reference Network for Rare Neurological Diseases (ERN-RND). METHODS: Members of the ERN-RND working group developed a questionnaire considering child-to-adult transition issues and procedures in current clinical practice. The questionnaire included 20 questions and was sent to members of the health care providers (HCPs) participating in the network. RESULTS: Twenty ERN-RND members (75% adult neurologists; 25% pediatricians; 5% nurses or study coordinators) responded to the survey, representing 10 European countries. Transition usually occurs between 16 and 18 years of age, but 55% of pediatric HCPs continue to care for their patients until they reach 40 years of age or older. In 5/20 ERN-RND centers, a standardized procedure managing transition is currently adopted, whereas in the remaining centers, the transition from youth to adult service is usually assisted by pediatricians as part of their clinical practice. CONCLUSIONS: This survey demonstrated significant variations in clinical practice between different centers within the ERN-RND network. It provided valuable data on existing transition programs and highlighted key challenges in managing transitions for patients with rare neurological disorders.


Assuntos
Atenção à Saúde , Doenças do Sistema Nervoso , Adulto , Adolescente , Humanos , Criança , Inquéritos e Questionários , Europa (Continente) , Doenças do Sistema Nervoso/diagnóstico , Doenças do Sistema Nervoso/terapia , Doenças Raras/diagnóstico , Doenças Raras/terapia
3.
Brain ; 147(4): 1511-1525, 2024 Apr 04.
Artigo em Inglês | MEDLINE | ID: mdl-37988272

RESUMO

It is debated whether primary progressive apraxia of speech (PPAOS) and progressive agrammatic aphasia (PAA) belong to the same clinical spectrum, traditionally termed non-fluent/agrammatic variant primary progressive aphasia (nfvPPA), or exist as two completely distinct syndromic entities with specific pathologic/prognostic correlates. We analysed speech, language and disease severity features in a comprehensive cohort of patients with progressive motor speech impairment and/or agrammatism to ascertain evidence of naturally occurring, clinically meaningful non-overlapping syndromic entities (e.g. PPAOS and PAA) in our data. We also assessed if data-driven latent clinical dimensions with aetiologic/prognostic value could be identified. We included 98 participants, 43 of whom had an autopsy-confirmed neuropathological diagnosis. Speech pathologists assessed motor speech features indicative of dysarthria and apraxia of speech (AOS). Quantitative expressive/receptive agrammatism measures were obtained and compared with healthy controls. Baseline and longitudinal disease severity was evaluated using the Clinical Dementia Rating Sum of Boxes (CDR-SB). We investigated the data's clustering tendency and cluster stability to form robust symptom clusters and employed principal component analysis to extract data-driven latent clinical dimensions (LCD). The longitudinal CDR-SB change was estimated using linear mixed-effects models. Of the participants included in this study, 93 conformed to previously reported clinical profiles (75 with AOS and agrammatism, 12 PPAOS and six PAA). The remaining five participants were characterized by non-fluent speech, executive dysfunction and dysarthria without apraxia of speech or frank agrammatism. No baseline clinical features differentiated between frontotemporal lobar degeneration neuropathological subgroups. The Hopkins statistic demonstrated a low cluster tendency in the entire sample (0.45 with values near 0.5 indicating random data). Cluster stability analyses showed that only two robust subgroups (differing in agrammatism, executive dysfunction and overall disease severity) could be identified. Three data-driven components accounted for 71% of the variance [(i) severity-agrammatism; (ii) prominent AOS; and (iii) prominent dysarthria]. None of these data-driven LCDs allowed an accurate prediction of neuropathology. The severity-agrammatism component was an independent predictor of a faster CDR-SB increase in all the participants. Higher dysarthria severity, reduced words per minute and expressive and receptive agrammatism severity at baseline independently predicted accelerated disease progression. Our findings indicate that PPAOS and PAA, rather than exist as completely distinct syndromic entities, constitute a clinical continuum. In our cohort, splitting the nfvPPA spectrum into separate clinical phenotypes did not improve clinical-pathological correlations, stressing the need for new biological markers and consensus regarding updated terminology and clinical classification.


Assuntos
Afasia Primária Progressiva , Apraxias , Afasia Primária Progressiva não Fluente , Humanos , Afasia de Broca/patologia , Disartria , Apraxias/patologia , Idioma , Fala
4.
Epilepsia ; 65(4): 1029-1045, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38135915

RESUMO

OBJECTIVE: The postsynaptic density protein of excitatory neurons PSD-95 is encoded by discs large MAGUK scaffold protein 4 (DLG4), de novo pathogenic variants of which lead to DLG4-related synaptopathy. The major clinical features are developmental delay, intellectual disability (ID), hypotonia, sleep disturbances, movement disorders, and epilepsy. Even though epilepsy is present in 50% of the individuals, it has not been investigated in detail. We describe here the phenotypic spectrum of epilepsy and associated comorbidities in patients with DLG4-related synaptopathy. METHODS: We included 35 individuals with a DLG4 variant and epilepsy as part of a multicenter study. The DLG4 variants were detected by the referring laboratories. The degree of ID, hypotonia, developmental delay, and motor disturbances were evaluated by the referring clinician. Data on awake and sleep electroencephalography (EEG) and/or video-polygraphy and brain magnetic resonance imaging were collected. Antiseizure medication response was retrospectively assessed by the referring clinician. RESULTS: A large variety of seizure types was reported, although focal seizures were the most common. Encephalopathy related to status epilepticus during slow-wave sleep (ESES)/developmental epileptic encephalopathy with spike-wave activation during sleep (DEE-SWAS) was diagnosed in >25% of the individuals. All but one individual presented with neurodevelopmental delay. Regression in verbal and/or motor domains was observed in all individuals who suffered from ESES/DEE-SWAS, as well as some who did not. We could not identify a clear genotype-phenotype relationship even between individuals with the same DLG4 variants. SIGNIFICANCE: Our study shows that a subgroup of individuals with DLG4-related synaptopathy have DEE, and approximately one fourth of them have ESES/DEE-SWAS. Our study confirms DEE as part of the DLG4-related phenotypic spectrum. Occurrence of ESES/DEE-SWAS in DLG4-related synaptopathy requires proper investigation with sleep EEG.


Assuntos
Encefalopatias , Epilepsia Generalizada , Epilepsia , Deficiência Intelectual , Humanos , Estudos Retrospectivos , Hipotonia Muscular , Epilepsia/diagnóstico por imagem , Epilepsia/genética , Epilepsia/complicações , Encefalopatias/genética , Convulsões/complicações , Epilepsia Generalizada/complicações , Eletroencefalografia/métodos , Deficiência Intelectual/genética , Deficiência Intelectual/complicações , Proteína 4 Homóloga a Disks-Large/genética
5.
Med ; 4(12): 913-927.e3, 2023 Dec 08.
Artigo em Inglês | MEDLINE | ID: mdl-37963467

RESUMO

BACKGROUND: Navigating the clinical literature to determine the optimal clinical management for rare diseases presents significant challenges. We introduce the Medical Action Ontology (MAxO), an ontology specifically designed to organize medical procedures, therapies, and interventions. METHODS: MAxO incorporates logical structures that link MAxO terms to numerous other ontologies within the OBO Foundry. Term development involves a blend of manual and semi-automated processes. Additionally, we have generated annotations detailing diagnostic modalities for specific phenotypic abnormalities defined by the Human Phenotype Ontology (HPO). We introduce a web application, POET, that facilitates MAxO annotations for specific medical actions for diseases using the Mondo Disease Ontology. FINDINGS: MAxO encompasses 1,757 terms spanning a wide range of biomedical domains, from human anatomy and investigations to the chemical and protein entities involved in biological processes. These terms annotate phenotypic features associated with specific disease (using HPO and Mondo). Presently, there are over 16,000 MAxO diagnostic annotations that target HPO terms. Through POET, we have created 413 MAxO annotations specifying treatments for 189 rare diseases. CONCLUSIONS: MAxO offers a computational representation of treatments and other actions taken for the clinical management of patients. Its development is closely coupled to Mondo and HPO, broadening the scope of our computational modeling of diseases and phenotypic features. We invite the community to contribute disease annotations using POET (https://poet.jax.org/). MAxO is available under the open-source CC-BY 4.0 license (https://github.com/monarch-initiative/MAxO). FUNDING: NHGRI 1U24HG011449-01A1 and NHGRI 5RM1HG010860-04.


Assuntos
Ontologias Biológicas , Humanos , Doenças Raras , Software , Simulação por Computador
6.
Data Brief ; 49: 109443, 2023 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-37547167

RESUMO

This article presents a dataset of thermographic images of terrain with antipersonnel mines to identify the presence or absence of these artifacts using machine learning and artificial vision techniques. The dataset has 2700 thermographic images acquired at different heights, using a Zenmuse XT infrared camera (7-13 µm), embedded in the DJI Matrice 100 drone. The data acquisition experiment consists of capturing aerial infrared images of a terrain where elements with characteristics similar to antipersonnel mines type legbreaker were buried. The mines were planted in the ground between 0 cm and 10 cm deep and were spread over an area of 10 m x 10 m. The drone used a flight protocol that set the trajectory, the time of the flight, the acquisition height, and the image sampling frequency. This dataset was used in "Detection of "legbreaker" antipersonnel landmines by analysis of aerial thermographic images of the soil" [7].

7.
Med. UIS ; 36(2)ago. 2023.
Artigo em Espanhol | LILACS-Express | LILACS | ID: biblio-1534836

RESUMO

Introducción: el trauma craneoencefálico es una de las principales causas de morbimortalidad infantil en Colombia, sus secuelas impactan gravemente la calidad de vida de los pacientes y la evidencia científica actual de los factores asociados al trauma es escasa. Objetivo: analizar los factores asociados al desarrollo de secuelas por trauma craneoencefálico en menores de 15 años que consultaron a un hospital de Medellín entre 2010 y 2014. Materiales y métodos: estudio de cohorte retrospectivo. Se incluyeron 812 pacientes en un periodo de 5 años, de los cuales 294 no cumplieron los criterios de inclusión. Se evaluaron variables sociodemográficas, clínicas y se estimó la incidencia de secuelas con el método estadístico de Wilson. El riesgo relativo se calculó mediante regresión log-binomial. Resultados: en total se analizaron 518 pacientes. La mediana de edad fue de 5 años, el 64,3 % eran hombres, el 75,4 % de los participantes tenía un trauma leve y el 5 % un trauma grave. Las caídas fueron la principal causa (64,2 %), seguidas de los accidentes de tránsito (25,3 %). La incidencia de secuelas fue del 7.3 % (IC: 5,4 % - 9,9 %). Conclusiones: la carga de enfermedad en el paciente posterior a TCE representa un problema de salud pública. La probabilidad de desarrollar una secuela en este estudio fue del 7,3 %, la cual se relaciona con los siguientes factores que se identifican en el servicio de urgencias: lesión difusa, una escala de Glasgow al ingreso moderada o grave y sufrir un accidente de tránsito.


Background: traumatic brain injury is one of the main causes of infant morbidity and mortality. The sequelae after trauma seriously impact the quality of life of patients and the scientific evidence of associated factors is scarce. Objective: to analyze the factors associated with the development of sequelae due to head trauma in children under 15 years old who went to the emergency room of a hospital in Medellín between 2010 and 2014. Materials and methods: retrospective cohort study. 812 patients were included in a period of 5 years, of which 294 did not meet the inclusion criteria. Sociodemographic and clinical variables were evaluated and the incidence of sequelae was estimated with 95 % confidence intervals using the Wilson statistical method. The relative risk was calculated using log-binomial regression. Results: a total of 518 patients were analyzed. The median age was 5 years, 64,23 % were male children, 75,4 % had mild trauma, and 5 % suffered severe trauma. Falls were the main cause (64,2 %), followed by traffic accidents (25,3 %). The incidence of sequelae was 7,3 % (CI: 5,4% - 9,9 %). Conclusions: the burden of disease in the patient after TCE represents a public health problem. The probability of developing a sequel in this study was 7,3 %, which is related to the following factors that identify in the emergency department: diffuse injury, a moderate or severe Glasgow scale on admission, and suffering a traffic accident.

8.
medRxiv ; 2023 Jul 13.
Artigo em Inglês | MEDLINE | ID: mdl-37503136

RESUMO

Navigating the vast landscape of clinical literature to find optimal treatments and management strategies can be a challenging task, especially for rare diseases. To address this task, we introduce the Medical Action Ontology (MAxO), the first ontology specifically designed to organize medical procedures, therapies, and interventions in a structured way. Currently, MAxO contains 1757 medical action terms added through a combination of manual and semi-automated processes. MAxO was developed with logical structures that make it compatible with several other ontologies within the Open Biological and Biomedical Ontologies (OBO) Foundry. These cover a wide range of biomedical domains, from human anatomy and investigations to the chemical and protein entities involved in biological processes. We have created a database of over 16000 annotations that describe diagnostic modalities for specific phenotypic abnormalities as defined by the Human Phenotype Ontology (HPO). Additionally, 413 annotations are provided for medical actions for 189 rare diseases. We have developed a web application called POET (https://poet.jax.org/) for the community to use to contribute MAxO annotations. MAxO provides a computational representation of treatments and other actions taken for the clinical management of patients. The development of MAxO is closely coupled to the Mondo Disease Ontology (Mondo) and the Human Phenotype Ontology (HPO) and expands the scope of our computational modeling of diseases and phenotypic features to include diagnostics and therapeutic actions. MAxO is available under the open-source CC-BY 4.0 license (https://github.com/monarch-initiative/MAxO).

9.
Enfoque UTE ; 14(3): 36-48, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37521501

RESUMO

Nowadays, the measurement of respiratory dynamics is underrated at clinical setting and in the daily life of a subject and it still represents a challenge from a technical and medical point of view. In this article we propose a concept to measure some of its parameters, such as the respiratory rate (RR), using four inertial sensors. Two different experiments were performed to validate the concept. We analyzed the most suitable placement of each sensor to assess those features and we studied the reliability of the system to measure abnormal parameters of respiration (tachypnea, bradypnea and breath holding). Finally, we measured post-COVID-19 patients, some of them with breath alterations after more than a year of the diagnosis. Experimental results showed that the proposed system could be potentially used to measure the respiratory dynamics at clinical setting. Moreover, while RR can be easily calculated by any sensor, other parameters need to be measured with a sensor in a particular position.


Hoy en día, la medición de la dinámica respiratoria está infravalorada en el ámbito clínico y en la vida diaria de un sujeto y sigue representando un reto desde el punto de vista técnico y médico. En este artículo proponemos un concepto para medir algunos de sus parámetros, como la frecuencia respiratoria (FR), utilizando cuatro sensores inerciales. Se realizaron dos experimentos diferentes para validar el concepto. Analizamos la colocación más adecuada de cada sensor para evaluar esas características y estudiamos la fiabilidad del sistema para medir parámetros anormales de la respiración (taquipnea, bradipnea y retención de la respiración). Por último, realizamos mediciones en pacientes post-COVID-19, algunos de ellos con alteraciones respiratorias después de más de un año del diagnóstico. Los resultados experimentales mostraron que el sistema propuesto podría utilizarse potencialmente para medir la dinámica respiratoria en el ámbito clínico. Además, mientras que la FR puede calcularse fácilmente con cualquier sensor, otros parámetros deben medirse con un sensor en una posición determinada.

10.
Av. psicol. latinoam ; 41(2): [1-22], may-ago. 2023.
Artigo em Inglês | LILACS | ID: biblio-1510112

RESUMO

The containment of COVID-19 implied challenges for governments and health authorities to motivate citizens to adopt several prevention behaviours (i.e., wearing a face mask and washing hands frequently). This paper aims to identify the factors that encourage people to adopt these behaviours. Our analysis was conducted over data collected by ASCOfAPSI and the Universidad Autónoma de Barcelona about attitudes and beliefs related to the pandemic from 919 people from Colombia. The data was collected using an online snowball sampling between May and June 2020. We found that each prevention behaviour is motivated by a different set of factors. Specifically, based on the theory of planned behaviour, our results suggest that the intention to adopt a preventive behaviour is pre- dicted by a group of variables about subjective norms and attitudes as independent variables and another one linked to perceived control as mediator variables. This suggests that the motivation for prevention behaviours from authorities should be particular to each behaviour and consider the associated particular pattern of motivations and the sociodemographic characteristics and possibilities of action.


La contención del COVID-19 implica desafíos para los gobiernos y las autoridades de salud pública, a fin de motivar a los ciudadanos a que adopten las conductas de prevención (i.e., usar tapabocas, lavarse las manos frecuentemente). El propósito de este artículo es identificar los factores que motivan a las personas a adoptar tales conductas. Nuestro análisis se realizó con datos recolectados por ASCOfAPSI y la Universidad Autónoma de Barcelona sobre actitudes y creencias acerca de la pandemia de 919 personas de Colombia. Con este análisis encontramos que cada clase de conducta de prevención está motivada por un conjunto de factores diferentes. Específicamente, asumiendo la teoría de la acción planeada, nuestros resultados dan soporte a la tesis de que la intención de adoptar un tipo de conducta de prevención está predicha por un conjunto de variables sobre normas subjetivas y actitudes como variables in- dependientes y un conjunto de variables vinculadas al control comportamental percibido como variables mediadoras. Esto sugiere que la motivación hacia las conductas de prevención por parte de las autoridades debería ser particular a cada tipo de conducta de prevención, y debería considerar el patrón de motivación particular asociado, así como particularidades sociodemográficas y diferentes posibilidades de acción.


A contenção do COVID-19 implica desafios para governos e autoridades de saúde pública para motivar os cidadãos a adotar comportamentos preventivos (i.e., usar máscaras faciais, lavar as mãos com frequência). O objetivo deste artigo é identificar os fatores que motivam as pessoas a adotar tais comportamentos. Nossa análise foi realizada em dados coletados pela ASCOfAPSI e pela Universidade Autônoma de Barcelona sobre atitudes e crenças sobre a pandemia de 919 pessoas da Colômbia. Com esta análise, descobrimos que cada classe de comportamento de prevenção é motivada por um conjunto diferente de fatores. Especificamente, assumindo a teoria da ação planejada, nossos resultados suportam a tese de que a intenção de adotar um tipo de comportamento de prevenção é predita por um conjunto de variáveis sobre normas sub- jetivas e atitudes como variáveis independentes e um conjunto de variáveis ligadas ao controle comportamental percebido como variáveis mediadoras. Isto sugere que a motivação para comportamentos de prevenção por parte das autoridades deve ser particular a cada tipo de comportamento de prevenção e deve considerar o padrão particular de motivação a ele associado, bem como particularidades sociodemográficas e diferentes possibilidades de ação.


Assuntos
Humanos
11.
Materials (Basel) ; 16(8)2023 Apr 10.
Artigo em Inglês | MEDLINE | ID: mdl-37109834

RESUMO

Pulsed thermography is a nondestructive method commonly used to explore anomalies in composite materials. This paper presents a procedure for the automated detection of defects in thermal images of composite materials obtained with pulsed thermography experiments. The proposed methodology is simple and novel as it is reliable in low-contrast and nonuniform heating conditions and does not require data preprocessing. Nonuniform heating correction and the gradient direction information combined with a local and global segmentation phase are used to analyze carbon fiber-reinforced plastic (CFRP) thermal images with Teflon inserts with different length/depth ratios. Additionally, a comparison between the actual depths and estimated depths of detected defects is performed. The performance of the nonuniform heating correction proposed method is superior to that obtained on the same CFRP sample analyzed with a deep learning algorithm and the background thermal compensation by filtering strategy.

12.
Front Immunol ; 14: 1298571, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-38162657

RESUMO

Immunotherapy aims to stimulate the immune system to inhibit tumor growth or prevent metastases. Tumor cells primarily employ altered expression of human leukocyte antigen (HLA) as a mechanism to avoid immune recognition and antitumor immune response. The antitumor immune response is primarily mediated by CD8+ cytotoxic T cells (CTLs) and natural killer (NK) cells, which plays a key role in the overall anti-tumor immune response. It is crucial to comprehend the molecular events occurring during the activation and subsequent regulation of these cell populations. The interaction between antigenic peptides presented on HLA-I molecules and the T-cell receptor (TCR) constitutes the initial signal required for T cell activation. Once activated, in physiologic circumstances, immune checkpoint expression by T cells suppress T cell effector functions when the antigen is removed, to ensures the maintenance of self-tolerance, immune homeostasis, and prevention of autoimmunity. However, in cancer, the overexpression of these molecules represents a common method through which tumor cells evade immune surveillance. Numerous therapeutic antibodies have been developed to inhibit immune checkpoints, demonstrating antitumor activity with fewer side effects compared to traditional chemotherapy. Nevertheless, it's worth noting that many immune checkpoint expressions occur after T cell activation and consequently, altered HLA expression on tumor cells could diminish the clinical efficacy of these antibodies. This review provides an in-depth exploration of immune checkpoint molecules, their corresponding blocking antibodies, and their clinical applications.


Assuntos
Neoplasias , Humanos , Linfócitos T Citotóxicos , Imunoterapia/métodos , Células Matadoras Naturais , Anticorpos , Antígenos de Histocompatibilidade Classe I , Antígenos HLA
13.
Arch. pediatr. Urug ; 94(1): e304, 2023. ilus
Artigo em Espanhol | LILACS, UY-BNMED, BNUY | ID: biblio-1439315

RESUMO

El síndrome de Moebius es una enfermedad congénita poco común que se caracteriza por el compromiso unilateral o bilateral del VI y VII par craneal, lo que compromete los músculos que controlan la oculomotricidad, produciendo una parálisis en la abducción del globo ocular y los músculos involucrados en la expresión facial. Su presentación clínica y grados de severidad son variables, puede presentar compromiso simétrico o asimétrico. Adicionalmente, gran parte de los casos se relacionan con trastornos del lenguaje, anomalías musculoesqueléticas y orofaciales. En el presente artículo se presenta el caso de una paciente femenina de 3 años producto de un embarazo trigemelar con diagnóstico clínico de síndrome de Moebius al nacer, confirmado por neuroimagen en la que se evidencia la ausencia bilateral del nervio facial en ángulos pontocerebelosos, adicionalmente con un defecto completo en los movimientos oculares de abducción y aducción lo que impide el estrabismo convergente común en estos pacientes.


Moebius syndrome is a rare congenital disease characterized by unilateral or bilateral involvement of the VI and VII cranial nerves, which compromises the muscles that control ocular motricity with paralysis in the abduction of the eyeball and the muscles involved in the facial expression. Its clinical presentation and degrees of severity are variable, and it can be symmetric or asymmetric. Additionally, most of the cases are related to language disorders, musculoskeletal and orofacial anomalies. This paper presents the case of a 3-year-old female patient, product of a trigemellar pregnancy with a clinical diagnosis of Moebius syndrome at birth, confirmed by neuroimaging, which shows the bilateral absence of the facial nerve in point-lateral angles. Additionally she has a complete defect in abduction and adduction eye movements, which prevents the common convergent strabismus in these patients.


A síndrome de Moebius é uma doença congênita rara caracterizada pelo envolvimento unilateral ou bilateral dos nervos cranianos VI e VII, que compromete os músculos que controlam a oculomotricidade com paralisia na abdução do globo ocular e dos músculos envolvidos na expressão facial. Sua apresentação clínica e graus de gravidade são variáveis, podendo ser um comprometimento simétrico ou assimétrico. Além disso, a maioria dos casos está relacionada a distúrbios de linguagem, anomalias musculoesqueléticas e orofaciais. Este paper apresenta o caso de uma paciente de 3 anos de idade, fruto de uma gravidez trigêmea com diagnóstico clínico de Síndrome de Moebius ao nascimento, confirmado por neuroimagem em que é evidente a ausência bilateral do nervo facial nos ângulos ponto-cerebelares. Além disso, ela tem um defeito completo nos movimentos oculares de abdução e adução, o que impede o estrabismo convergente comum nesses pacientes.


Assuntos
Humanos , Feminino , Pré-Escolar , Transtornos da Motilidade Ocular/complicações , Doenças do Nervo Abducente/complicações , Síndrome de Möbius/complicações , Nervo Facial/anormalidades , Doenças do Nervo Facial/complicações , Doenças do Nervo Facial/diagnóstico por imagem
14.
Horiz. enferm ; 34(1): 139-154, 2023. ilus, tab
Artigo em Espanhol | LILACS | ID: biblio-1427992

RESUMO

INTRODUCCIÓN: El delirium es un desorden cognitivo propio de la enfermedad crítica, está vinculado al aumento de la mortalidad, mayor estadía hospitalaria, mayores requerimientos de UCI, mayor deterioro funcional y necesidad de unidades de rehabilitación y cuidados crónicos. OBJETIVO: Identificar y evaluar la evidencia de los últimos 5 años respecto a definición y diagnóstico del delirium en adultos hospitalizados en UCI por medio de una revisión de revisiones sistemáticas y metaanálisis. MATERIALES Y MÉTODOS: Una revisión Umbrella guiada según guías del JBI. Los datos fueron obtenidos Science direct, Web of Science, Scielo, CINAHL, PubMed, Biblioteca Virtual de Salud (BVS) y Biblioteca Cochrane. La última búsqueda fue realizada el 28 de marzo de 2022. RESULTADOS: Catorce revisiones cumplieron los criterios de inclusión, la definición de delirium desde la perspectiva de pacientes y familia, prevalencia factores de riesgo y precisión de las diferentes escalas como CAM-ICU, ICDSC, PREDELIRIC y E-PREDILIRC tienen buenos valores predictivos. CONCLUSIONES: El delirium hipoactivo posee mayor prevalencia e incidencia en las UCI. Es necesario que el personal de salud adopte ciertas actitudes con el paciente con delirium.


INTRODUCTION: Delirium is a cognitive disorder typical of critical illness, it is linked to increased mortality, longer hospital stay, higher ICU requirements, greater functional impairment and the need for rehabilitation and chronic care units. OBJECTIVE: To identify and evaluate the evidence of the last 5 years regarding the definition and diagnosis of delirium in adults hospitalized in the ICU through a review of systematic reviews and meta-analyses. MATERIALS AND METHODS: An Umbrella review guided by JBI guidelines. Data were obtained from Science direct, Web of science, Scielo, CINAHL, PubMed, Virtual Health Library (VHL) and Cochrane Library. The last search was carried out on March 28, 2022. RESULTS: Fourteen reviews met the inclusion criteria, the definition of delirium from the perspective of patients and families, prevalence of risk factors and accuracy of the different scales such as CAM-ICU, ICDSC, PREDELIRIC and E-PREDILIRC have good predictive values. CONCLUSIONS: Hypoactive delirium has a higher prevalence and incidence in ICUs. It is necessary that the health personnel adopt certain attitudes with the patient with delirium.


Assuntos
Humanos , Masculino , Feminino , Adulto , Adulto , Delírio/diagnóstico , Análise de Dados
15.
Artigo em Inglês | MEDLINE | ID: mdl-36554451

RESUMO

The pandemic has affected people's lives and emotions in profound ways, which governments ignore at their peril. Among the often disregarded consequences of the pandemic, especially in developing countries, are its toll on subjective well-being and its implications for health policymaking. This paper uses a battery of surveys with over 1800 observations collected in 2019 and 2020, which inform on many aspects of subjective well-being before and during the pandemic in Cali, Colombia. The results show a dramatic and widespread reduction in life satisfaction in several dimensions of well-being beyond health, and not just among those directly affected by COVID-19. This analysis focuses on differences in well-being by gender and health status, providing information about gender variances and differences in subjective well-being between those who experienced and those who did not experience physical illness (including the COVID-19 infection) during the pandemic. This analysis aims at contributing to the body of research that studies the consequences of the pandemic for life satisfaction and well-being, in the context of a city experiencing profound social unrest during the pandemic.


Assuntos
COVID-19 , Humanos , COVID-19/epidemiologia , SARS-CoV-2 , Pandemias , Emoções , Inquéritos e Questionários
16.
Surg Infect (Larchmt) ; 23(10): 933-939, 2022 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-36472509

RESUMO

Background: Intra-abdominal infection (IAI) results in prolonged in-hospital length-of-stay, critical care unit requirements, and multiple surgical procedures. Several antimicrobial agents are available for treatment of IAI. In Colombia, there are no data on the comparative effectiveness of the different regimens used. Patients and Methods: A multicenter retrospective cohort study was completed in four third-level hospitals by comparing treatment effectiveness of five different antibiotic protocols (ampicillin-sulbactam, clindamycin-amikacin, piperacillin-tazobactam, amikacin-metronidazole, and cefuroxime-metronidazole) in patients with a diagnosis of IAI. Analysis was based on a composed outcome of therapeutic failure (change of antibiotic because of no clinical improvement, requirement of surgical re-intervention, post-operative infection, change of antibiotic because of antimicrobial resistance, and in-hospital mortality). Association of each antibiotic protocol to therapeutic failure was assessed through logistic regression analysis. Results: Five hundred ninety-three individuals were included. Two hundred twenty-nine were prescribed ampicillin-sulbactam; 170, clindamycin-amikacin; 77, amikacin-metronidazole; 83, piperacillin-tazobactam; and 34, cefuroxime-metronidazole. Therapeutic failure rate was 22%. Multivariable analysis showed none of the evaluated antibiotic protocols had an association with the primary outcome. Variables having an association for higher risk were age >70 years old (odds ratio [OR], 2.08; 95% confidence interval [CI], 1.04-4.18); complicated IAI (OR, 3.36; 95% CI, 1.4-8.07); and World Society of Emergency Surgery (WSES) Sepsis Severity Score (OR, 1.31; 95% CI, 1.18-1.45). Adequate source control (OR, 0.16; 95% CI, 0.05-0.45) and hospitalization at Health Center 2 (OR, 0.30; 95% CI, 0.14-0.63) were identified as protective factors. Conclusions: There are no differences between the rate of therapeutic failure among the different antibiotic protocols evaluated. This outcome depends heavily on risk factors related to disease severity when surgical intervention occurs.


Assuntos
Antibacterianos , Infecções Intra-Abdominais , Humanos , Idoso , Antibacterianos/uso terapêutico , Estudos Retrospectivos , Infecções Intra-Abdominais/tratamento farmacológico
17.
Artigo em Espanhol | LILACS-Express | LILACS | ID: biblio-1536044

RESUMO

Contexto: la lesión renal aguda inducida por contraste se ha convertido en un tema de gran interés en la comunidad médica a nivel mundial, siendo la tercera causa de lesión renal aguda adquirida en el hospital. Objetivo: el presente artículo presenta una revisión de la literatura con el fin de actualizar los conceptos de esta patología en el personal de la salud que está en contacto con la población pediátrica y que es sometida a procedimientos con medios de contraste. Metodología: en esta revisión narrativa de la literatura, presentamos la definición, los factores de riesgo, el enfoque clínico y las medidas preventivas de la nefropatía inducida por contraste en pediatría. Resultados: se define que hay un deterioro en la función renal aguda después de la administración del medio de contraste en donde se excluyen otras posibles etiologías y se establece una verdadera relación causal con la sustancia. Los factores de riesgo son múltiples, sin embargo, factores estrictamente relacionados en los niños no han sido establecidos en su totalidad. El abordaje de los pacientes que van a ser sometidos a estudios con medios de contraste inicia desde una historia clínica, un examen físico y unas medidas de laboratorio que permiten evaluar el estado basal de cada paciente para instaurar medidas preventivas. Por su parte, las estrategias de prevención de esta condición son múltiples, sin embargo, no existen guías basadas en la evidencia acerca de esta condición en el paciente pediátrico. Conclusiones: el artículo presenta una revisión de la literatura sobre lesión renal aguda para actualizar los conceptos de esta patología en el personal de la salud que está en contacto con la población pediátrica que se somete a procedimientos con medios de contraste.


Context: Contrast-induced acute kidney injury has become a topic of great interest in the medical community worldwide, being the third cause of hospital-acquired acute kidney injury. Purpose: This article presents a review of the literature in order to update the concepts of this pathology in health personnel who are in contact with the pediatric population that undergoes procedures with contrast media. Methodology: In this narrative review of the literature, we present the definition, risk factors, clinical approach, and preventive measures of contrast-induced nephropathy in pediatrics. Results: It is defined as a deterioration in acute renal function after the administration of the contrast medium where other possible etiologies are excluded and a true causal relationship with the substance is established. The risk factors are multiple; nevertheless; Strictly related factors in children have not been fully established. The approach to patients who are going to undergo studies with contrast media begins with a clinical history, physical examination, and laboratory measurements that allow the baseline status of each patient to be evaluated in order to establish preventive measures. The prevention strategies of this condition are multiple; however, there are no evidence-based guidelines on this condition in pediatric patients. Conclusions: This article presents a review of the literature in order to update the concepts of acute kidney injury in health personnel who are in contact with the pediatric population that undergoes procedures with contrast media.

18.
Sensors (Basel) ; 22(21)2022 Oct 27.
Artigo em Inglês | MEDLINE | ID: mdl-36365918

RESUMO

Despite the importance of cognitive function in multiple sclerosis, it is poorly represented in the Expanded Disability Status Scale (EDSS), the commonly used clinical measure to assess disability, suggesting that an analysis of eye movement, which is generated by an extensive and well-coordinated functional network that is engaged in cognitive function, could have the potential to extend and complement this more conventional measure. We aimed to measure the eye movement of a case series of MS patients with relapsing−remitting MS to assess their cognitive status using a conventional gaze tracker. A total of 41 relapsing−remitting MS patients and 43 age-matched healthy controls were recruited for this study. Overall, we could not find a clear common pattern in the eye motor abnormalities. Vertical eye movement was more impaired in MS patients than horizontal movement. Increased latencies were found in the prosaccades and reflexive saccades of antisaccade tests. The smooth pursuit was impaired with more corrections (backup and catchup movements, p<0.01). No correlation was found between eye movement variables and EDSS or disease duration. Despite significant alterations in the behavior of the eye movements in MS patients, which are compatible with altered cognitive status, there is no common pattern of these alterations. We interpret this as a consequence of the patchy, heterogeneous distribution of white matter involvement in MS that provokes multiple combinations of impairment at different points in the different networks involved in eye motor control. Further studies are therefore required.


Assuntos
Disfunção Cognitiva , Esclerose Múltipla Recidivante-Remitente , Esclerose Múltipla , Humanos , Movimentos Oculares , Movimentos Sacádicos
19.
Artigo em Espanhol | LILACS-Express | LILACS | ID: biblio-1536021

RESUMO

Contexto las personas con diálisis se consideran una población de alto riesgo de infección por SARS-CoV-2, complicaciones y muerte. En Colombia, cerca del 44 % de la población en diálisis es menor de 60 años, adicionalmente, por los mismos retos que ha impuesto la pandemia a los programas de trasplantes, se ha incrementado notoriamente la población joven que debe seguir en diálisis al no tener opción a corto plazo de un trasplante renal, por lo tanto, las limitaciones en el acceso temprano a la vacunación contra SARS-CoV-2 agudizarían los problemas de esta población, provocando pérdidas considerables en años de vida que la vacuna podría salvar. Objetivo el objetivo del presente documento es sintetizar los principales motivos por los que se recomienda la priorización de la vacunación de los pacientes en diálisis crónica y lista de espera para trasplante renal. Metodología se realizó una búsqueda rápida de información sobre la vacunación en pacientes con ERC en diálisis o en espera de trasplante renal. La información resultante fue analizada críticamente por expertos en nefrología para la formulación de recomendaciones. Los resultados de la búsqueda se presentan a manera de síntesis narrativa. Resultados a partir de la información revisada y discutida por los expertos en nefrología se proponen 4 recomendaciones para la vacunación contra el virus SARS-Cov-2. Conclusiones la Asociación Colombiana de Nefrología e Hipertensión Arterial, la Asociación Colombiana de Nefrología Pediátrica y la Asociación Colombiana de Trasplante de Órganos, comprometidos con la salud de los pacientes con enfermedad renal en diálisis y listas de espera de trasplantes en Colombia, se unen a la solicitud mundial de generar recomendaciones para la vacunación contra SARS-CoV-2.


Background People on dialysis are considered a high-risk population for SARS-CoV-2 infection, complications, and death. In Colombia, about 44% of the population on dialysis is under 60 years of age. In addition, due to the same challenges that the pandemic has imposed on transplant programs, the young population that must continue on dialysis has increased markedly, as they have no option in the short term of a kidney transplant, therefore, the limitations in early access to vaccination against SARS-CoV-2 would exacerbate the problems of this population, causing considerable losses in years of life that the vaccine could save. Purpose The objective of this document is to summarize the main reasons why the prioritization of vaccination of patients on chronic dialysis and on the kidney transplant waiting list is recommended. Methodology A rapid search for information on vaccination in patients with CKD on dialysis or awaiting kidney transplantation was performed. The resulting information was critically analyzed by experts in nephrology for the formulation of recommendations. The search results are presented as a narrative synthesis. Results Based on the information reviewed and discussed by nephrology experts, 4 recommendations are proposed for vaccination against the SARS-Cov-2 virus. Conclusions The Colombian Association of Nephrology and Arterial Hypertension (ASOCOLNEF), the Colombian Association of Pediatric Nephrology (ACONEPE) and the Colombian Association of Organ Transplantation (ACTO), committed to the health of patients with kidney disease on dialysis and transplant waiting lists in Colombia, join to generate recommendations for prioritization and vaccination against SARS-CoV-2.

20.
Comput Struct Biotechnol J ; 20: 3257-3267, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35782747

RESUMO

Human gait is a fundamental activity, essential for the survival of the individual, and an emergent property of the interactions between complex physical and cognitive processes. Gait is altered in many situations, due both to external constraints, as e.g. paced walk, and to physical and neurological pathologies. Its study is therefore important as a way of improving the quality of life of patients, but also as a door to understanding the inner working of the human nervous system. In this review we explore how four statistical physics concepts have been used to characterise normal and pathological gait: entropy, maximum Lyapunov exponent, multi-fractal analysis and irreversibility. Beyond some basic definitions, we present the main results that have been obtained in this field, as well as a discussion of the main limitations researchers have dealt and will have to deal with. We finally conclude with some biomedical considerations and avenues for further development.

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