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1.
Front Psychol ; 14: 1263421, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37720644

RESUMO

This paper aims to examine students' conceptions of Geography and History as school disciplines at different educational stages. The sample, composed by a total of 73 participants from Primary School (n = 26), Secondary School (n = 29) and Higher Education (n = 18), completed a lexical availability test in Spanish and English or in Spanish and French. The results show that lexical availability increases as the educational stage increases, although the differences are not significant between all of them. The available lexical items on Geography and History, most of which are not shared between the different stages, are very generalist, showing a rigid and formal view of the disciplines. After the analysis carried out, we consider that lexical availability may constitute a valid tool for accessing students' conceptions.

2.
Artigo em Inglês | MEDLINE | ID: mdl-36833936

RESUMO

The pre-diagnosis of cancer has been approached from various perspectives, so it is imperative to continue improving classification algorithms to achieve early diagnosis of the disease and improve patient survival. In the medical field, there are data that, for various reasons, are lost. There are also datasets that mix numerical and categorical values. Very few algorithms classify datasets with such characteristics. Therefore, this study proposes the modification of an existing algorithm for the classification of cancer. The said algorithm showed excellent results compared with classical classification algorithms. The AISAC-MMD (Mixed and Missing Data) is based on the AISAC and was modified to work with datasets with missing and mixed values. It showed significantly better performance than bio-inspired or classical classification algorithms. Statistical analysis established that the AISAC-MMD significantly outperformed the Nearest Neighbor, C4.5, Naïve Bayes, ALVOT, Naïve Associative Classifier, AIRS1, Immunos1, and CLONALG algorithms in conducting breast cancer classification.


Assuntos
Neoplasias da Mama , Humanos , Feminino , Teorema de Bayes , Algoritmos , Análise por Conglomerados , Máquina de Vetores de Suporte
3.
Front Vet Sci ; 10: 1309877, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-38283371

RESUMO

Artificial Intelligence has observed significant growth in its ability to classify different types of tumors in humans due to advancements in digital pathology technology. Among these tumors, lymphomas are quite common in dogs, despite studies on the application of AI in domestic species are scarce. This research aims to employ deep learning (DL) through convolutional neural networks (CNNs) to distinguish between normal lymph nodes and 3 WHO common subtypes of canine lymphomas. To train and validate the CNN, 1,530 high-resolution microscopic images derived from whole slide scans (WSIs) were used, including those of background areas, hyperplastic lymph nodes (n = 4), and three different lymphoma subtypes: diffuse large B cell lymphoma (DLBCL; n = 5), lymphoblastic (LBL; n = 5), and marginal zone lymphoma (MZL; n = 3). The CNN was able to correctly identify 456 images of the possible 457 test sets, achieving a maximum accuracy of 99.34%. The results of this study have demonstrated the feasibility of using deep learning to differentiate between hyperplastic lymph nodes and lymphomas, as well as to classify common WHO subtypes. Further research is required to explore the implications of these findings and validate the ability of the network to classify a broader range of lymphomas.

5.
Diagnostics (Basel) ; 11(8)2021 Aug 11.
Artigo em Inglês | MEDLINE | ID: mdl-34441383

RESUMO

Over time, a myriad of applications have been generated for pattern classification algorithms. Several case studies include parametric classifiers such as the Multi-Layer Perceptron (MLP) classifier, which is one of the most widely used today. Others use non-parametric classifiers, Support Vector Machine (SVM), K-Nearest Neighbors (K-NN), Naïve Bayes (NB), Adaboost, and Random Forest (RF). However, there is still little work directed toward a new trend in Artificial Intelligence (AI), which is known as eXplainable Artificial Intelligence (X-AI). This new trend seeks to make Machine Learning (ML) algorithms increasingly simple and easy to understand for users. Therefore, following this new wave of knowledge, in this work, the authors develop a new pattern classification methodology, based on the implementation of the novel Minimalist Machine Learning (MML) paradigm and a higher relevance attribute selection algorithm, which we call dMeans. We examine and compare the performance of this methodology with MLP, NB, KNN, SVM, Adaboost, and RF classifiers to perform the task of classification of Computed Tomography (CT) brain images. These grayscale images have an area of 128 × 128 pixels, and there are two classes available in the dataset: CT without Hemorrhage and CT with Intra-Ventricular Hemorrhage (IVH), which were classified using the Leave-One-Out Cross-Validation method. Most of the models tested by Leave-One-Out Cross-Validation performed between 50% and 75% accuracy, while sensitivity and sensitivity ranged between 58% and 86%. The experiments performed using our methodology matched the best classifier observed with 86.50% accuracy, and they outperformed all state-of-the-art algorithms in specificity with 91.60%. This performance is achieved hand in hand with simple and practical methods, which go hand in hand with this trend of generating easily explainable algorithms.

6.
Curr Alzheimer Res ; 14(9): 1008-1016, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-28413982

RESUMO

BACKGROUND: The Alzheimer's Disease Assessment Scale-Cognitive subscale (ADASCog) remains the most widely used test of longitudinal cognitive functioning in Alzheimer's disease (AD) clinical trials. Unlike most neuropsychological tests, the ADAS-Cog source documentation worksheets are not uniform across clinical trials, and vary by document layout, inclusion of administration and/or scoring instructions, and documentation of subtest scoring (e.g., recording correct versus incorrect scores), among other differences. Many ADAS-Cog test administrators (raters) participate in multiple AD trials and switching between different ADAS-Cog worksheets may increase the likelihood of administration and/or scoring mistakes that lessen the reliability of the instrument. An anonymous online survey sought raters' experiences with ADAS-Cog worksheets and their opinions on the design and content of the worksheets. RESULTS: Results of the survey indicated preference for structure and standardization of the ADASCog worksheets, which has been considered in the development of a standard ADAS-Cog source document by the Alzheimer's Disease Cooperative Study (ADCS) Working Group.


Assuntos
Doença de Alzheimer/diagnóstico , Doença de Alzheimer/psicologia , Ensaios Clínicos como Assunto , Cognição , Testes Neuropsicológicos , Ensaios Clínicos como Assunto/métodos , Ensaios Clínicos como Assunto/normas , Escolaridade , Humanos , Testes Neuropsicológicos/normas , Reprodutibilidade dos Testes , Pesquisadores/psicologia , Especialização , Inquéritos e Questionários
7.
Pharm Biol ; 55(1): 456-461, 2017 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-27937075

RESUMO

CONTEXT: Anisakis Dujardin 1845 (Anisakidae) nematodes can cause gastrointestinal and allergic diseases when humans eat raw or undercooked seafood containing larvae. There is currently no drug available in the market against this parasitic disease, and the study of plant-derived molecules could be useful in the discovery of effective compounds. OBJECTIVE: This research assesses the biocidal activity of a range of essential oils (EOs) from some Mediterranean plants against larvae found in the musculature of fresh fish. MATERIALS AND METHODS: EOs composition was analyzed by gas chromatography-mass spectroscopy. All the EOs were diluted at 5% v/v in olive oil to cover the fish with the solutions for 24 h. The larvae that abandoned the muscle and the larvae obtained from the artificial digestion of the fish were collected. Controls were carried out in parallel. Furthermore, Wistar rats were infected with the live larvae collected from the in vitro trials in order to find any larvae that may have penetrated the gastrointestinal wall. RESULTS: Between 60.8% and 87.6% of parasites treated with EOs abandoned the fish muscle, and the highest in vitro mortality rate was achieved with oregano EO (53.9%). Rats previously treated with oregano, cumin and Spanish lavender EOs showed no detectable lesions in the digestive tract due to the infection with larvae. CONCLUSIONS: Oregano (Origanum vulgare L. Lamiaceae), cumin (Cuminum cyminum L. Apiaceae) and Spanish lavender (Lavender stoechas L. Lamiaceae) EOs could be used as promising ingredients in the development of products for the control of anisakiasis.


Assuntos
Anisaquíase/prevenção & controle , Anisakis/efeitos dos fármacos , Antinematódeos/farmacologia , Cuminum/química , Óleos Voláteis/farmacologia , Origanum/química , Extratos Vegetais/farmacologia , Óleos de Plantas/farmacologia , Animais , Anisaquíase/parasitologia , Anisakis/crescimento & desenvolvimento , Antinematódeos/isolamento & purificação , Peixes , Cromatografia Gasosa-Espectrometria de Massas , Larva/efeitos dos fármacos , Lavandula , Região do Mediterrâneo , Óleos Voláteis/isolamento & purificação , Fitoterapia , Extratos Vegetais/isolamento & purificação , Óleos de Plantas/isolamento & purificação , Plantas Medicinais , Ratos Wistar
8.
Psicol. Caribe ; 33(1): 14-30, ene.-abr. 2016. ilus, tab
Artigo em Espanhol | LILACS | ID: lil-783600

RESUMO

El entrenamiento en autorregulación se ha mostrado eficaz para el logro de aprendizajes profundos y significativos. El objetivo de este estudio fue determinar las diferencias inter e intragrupales antes y después de la intervención (entrenamiento autorregulado) en el uso de estrategias de aprendizaje. Se trabajó con una muestra de 41 estudiantes de educación secundaria: 19 en el grupo experimental (12 hombres y 7 mujeres) y 22 en el grupo control (5 hombres y 17 mujeres) con medias de edad comprendidas entre 15.40 y 15.50 años. Se utilizó un diseño experimental antes-después de grupo control equivalente. En el análisis intergrupo (antes-después de la intervención) se encontraron diferencias significativas en algunas estrategias de adquisición de la información a favor del grupo control y en estrategias de codificación de la información, recuperación y metacognitivas en el grupo experimental. En el análisis intragrupos se hallaron diferencias significativas a favor del grupo experimental en todas las estrategias de aprendizaje. En consecuencia el entrenamiento en autorregulación facilita el uso de estrategias relacionadas con un aprendizaje reflexivo.


The Self-regulated training is effective to developing deep and significant learning. The aim of this study was to determine whether there were differences before-after in self-regulation training in acquisition, coding, recovery, metacognition and support information learning strategies use. We work with 41 secondary students' 19 experimental group (12 men and 7 female) and 22 control group (5 men and 17 female) mean age range 15.40-15.50. We em-ployed an experimental design before-after equivalent control group. We found, inter group analysis, significant differences in control group to use some acquisition strategies and coding recovery and metacognition strategies in experimental group. Also, in intra group analysis, we found significant differences in experimental group to coding, recovery and metacognition strategies use. Consequently the self-regulated training improves the use strategies related with reflective learning.

11.
PLoS One ; 8(6): e66875, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-23840541

RESUMO

Education is the most traditional means with formative effect on the human mind, learning and memory being its fundamental support. For this reason, it is essential to find different strategies to improve the students performance. Based on previous work, we hypothesized that a novel experience could exert an enhancing effect on learning and memory within the school environment. Here we show that novel experience improved the memory of literary or graphical activities when it is close to these learning sessions. We found memory improvements in groups of students who had experienced a novel science lesson 1 hour before or after the reading of a story, but not when these events were 4 hours apart. Such promoting effect on long-term memory (LTM) was also reproduced with another type of novelty (a music lesson) and also after another type of learning task (a visual memory). Interestingly, when the lesson was familiar, it failed to enhance the memory of the other task. Our results show that educationally relevant novel events experienced during normal school hours can improve LTM for tasks/activities learned during regular school lessons. This effect is restricted to a critical time window around learning and is particularly dependent on the novel nature of the associated experience. These findings provide a tool that could be easily transferred to the classroom by the incorporation of educationally novel events in the school schedule as an extrinsic adjuvant of other information acquired some time before or after it. This approach could be a helpful tool for the consolidation of certain types of topics that generally demand a great effort from the children.


Assuntos
Memória de Longo Prazo/fisiologia , Estudantes/psicologia , Percepção Visual/fisiologia , Percepção Auditiva/fisiologia , Criança , Escolaridade , Feminino , Humanos , Masculino , Testes Neuropsicológicos
12.
Artigo em Espanhol | LILACS, BDENF - Enfermagem | ID: biblio-1035220

RESUMO

Resumen:


Las competencias transversales serían aquellas que rebasan los límites de una disciplina para desarrollarse potencialmente en todas ellas: habilidades necesarias para ejercer eficazmente cualquier profesión que no se consideran de forma explícita en una asignatura determinada, al menos en Ciencias de la Salud. Así ocurre en Enfermería, en la que por otra parte adquirir dichas competencias incide de una forma sustancial en la formación de profesionales para las demandas de la sociedad y del mercado de trabajo.


Nos planteamos la necesidad de establecer algún tipo de actuación que propicie la adquisición de competencias en este sentido, que no están cubiertas en las materias curriculares, y por ello se propone un programa piloto de formación en competencias básicas para el empleo, integrado por una serie de talleres que podrían ser desarrollados en uno de los dos últimos cursos del Grado en Enfermería.


Abstract:


Transversal competencies are those that exceed the limits of a discipline to develop potential in all of them: skills necessary to effectively exercise any profession that are not considered explicitly in a given subject, at least in Health Sciences. This is true in Nursing, which otherwise acquire such skills in a substantial impact on the training of professionals for the demands of society and labor market. We propose the need of some type of action that encourages the acquisition of skills in this regard, which are not covered in the curriculum materials, and therefore proposes a pilot training program in basic skills for employment and work, composed of a series of workshops that could be developed into one of the last two years of graduate programs in Nursing.


Competências transversales são aqueles que excedem os limites de uma disciplina para desenvolver o potencial em todos eles: habilidades necessárias para efetivamente exercer qualquer profissão que não são considerados explicitamente em um determinado assunto, pelo menos em Ciências da Saúde. Isto é verdade em Enfermagem, que de outra forma adquirir tais conhecimentos em um impacto substancial na formação de profissionais para as demandas da sociedade e do mercado de trabalho. Propomos a necessidade de algum tipo de ação que incentiva a aquisição de competências nesta matéria, que não são abrangidos no material curricular e, portanto, propõe um programa de treinamento de pilotos em competências básicas para o emprego eo trabalho, composto por uma série de workshops, que poderão ser desenvolvidas em um dos dois últimos anos de cursos de graduação em Enfermagem.


Assuntos
Humanos , Competência Clínica , Competência Profissional , Cuidados de Enfermagem , Educação em Enfermagem , Espanha
13.
Rev. esp. quimioter ; 24(3): 131-135, sept. 2011. tab
Artigo em Espanhol | IBECS | ID: ibc-90992

RESUMO

Introducción: La información precoz del resultado del hemocultivo al clínico permite mejorar el pronóstico y reducir la mortalidad del paciente con sepsis. Para contribuir a ello, se realizó un estudio para la identificación y sensibilidad de cultivos de sangre por inoculación directa en el sistema Vitek 2. Material y Métodos: Se estudiaron los hemocultivos de 57 pacientes con bacteriemias monomicrobianas por cocos grampositivos. Se añadió saponina al líquido de botellas del sistema BacT/ALERT® 3D antes de la inoculación en los paneles del sistema Vitek 2. Las muestras fueron examinadas asimismo por el método estándar, consistente en la realización de las pruebas a partir del crecimiento en placa de los hemocultivos positivos. Resultados: La comparación de los resultados obtenidos entre el método estándar y el método directo reveló una concordancia en la identificación del 82% y en la sensibilidad del 97% del total de antibióticos analizados. La tasa de errores muy graves fue tan solo del 0,5%, de errores graves del 0,5% y de errores menores del 2% en comparación con el método estándar. Conclusión: Estos datos sugieren que la adición de saponina al líquido de las botellas del sistema BacT/ALERT® 3D antes de la inoculación en los paneles Vitek 2 conduce a una identificación y estudio de sensibilidad rápido y fiable de cocos grampositivos en muestras de sangre. Comparando con el método estándar, el método directo anticiparía en un día la obtención de resultados(AU)


Introduction: To provide the clinician with early information about blood culture results allows a better prognosis and a reduced mortality rate of the patient with sepsis. In order to contribute to this aim, we performed a study for the identification and susceptibility profiling of positive blood cultures by direct inoculation into the automated Vitek 2 system. Materials and Methods: Blood cultures of 57 patients with monomicrobial bacteriaemia due to gram-positive cocci were evaluated. Addition of saponin to the fluid from blood culture bottles was performed prior to the inoculation of Vitek 2 system cards. The same samples were also examined with the standard method starting from agar plate grown subcultures. Results: Comparison between the results obtained with the standard method and the direct method revealed that 82% of the samples were correctly identified and that 97% of the isolates showed a concordant antimicrobial susceptibility profile for all drugs tested. Compared to the standard method, the very major error rate of the direct method was just 0.5%, the major error rate was 0.5%, and the minor error rate was 2%. Conclusion: These data suggest that addition of saponin to the fluid from blood culture bottles of the BacT/ALERT® 3D before inoculation of the appropriate Vitek 2 cards leads to the rapid and reliable identification and susceptibility profiling of gram-positive cocci in blood samples. Compared to the standard method, the direct method would reduce turnaround time by at least 24 hours (AU)


Assuntos
Humanos , Masculino , Feminino , Testes de Sensibilidade Microbiana , Bacilos Gram-Positivos , Bacilos Gram-Positivos/isolamento & purificação , Sepse/microbiologia , Sepse/prevenção & controle , Bacteriemia/microbiologia , Saponinas/administração & dosagem , Saponinas , Saponinas/metabolismo , Anti-Infecciosos , Bacteriemia/tratamento farmacológico , Estudos Prospectivos , Sensibilidade e Especificidade
14.
Metas enferm ; 14(5): 72-76, jun. 2011. tab
Artigo em Espanhol | IBECS | ID: ibc-91358

RESUMO

Objetivos: analizar la producción científica de Enfermería en Españasegún el sexo de las personas involucradas en dicha produccióny otras variables del contexto.Metodología: estudio de naturaleza cuantitativa. Los datos fueronrecolectados en la base TESEO, a través de acceso electrónico, a partirde los términos de búsqueda: “Enfermería, enfermera, enfermero”.El análisis se hizo mediante la lectura de los títulos y resúmenes,teniendo en cuenta el sexo como referencia empírica para identificacióny discusión de los rasgos de género.Resultados: fueron identificadas 89 tesis, producidas mayoritariamenteen los últimos cinco años; la autoría femenina fue del 69,3%;la mayoría fueron dirigidas por hombres (74,2%) y solamente el 27%de los tribunales tenían mujeres en la presidencia. Las principalesáreas de las tesis eran: Educación, Enfermería, Psicología y Medicina.Destaca el tema trabajo, incluyendo estrés y condiciones del desarrollode las actividades del personal de Enfermería.Conclusión: aunque las mujeres estén más representadas como autorasde las tesis, la proporción es inferior a la que hay en el total deprofesionales de Enfermería del país. Por otra parte, las mayores proporcionesde hombres en los tribunales indica la dificultad de las mujeresy, en concreto, de las enfermeras, para ocupar cargos de mayorprestigio social, reproduciéndose las relaciones desiguales de géneroy distribución del poder dentro de la profesión y en la universidad,aunque es importante subrayar que el desarrollo de la investigación ligadaa cursos de doctorado propios de la Enfermería aún son pocos (AU)


Objectives: to analyse scientific production of nursing in Spainaccording the gender of the individuals involved in such productionand other context variables.Methodology: quantitative study. Data were gathered in the TESEOdatabase through electronic accesses based on the search terms:nursing, female nurse, male nurse. The analysis was carried out byreading of the titles and summaries, taking into account the genderas empiric reference for identification and discussion of the gender’straits.Results: 89 thesis were identified which had been produced mainlyin the last five years, female authorship was 69,3%; most of thesewere directed by men (74,2%) and only 27% of the doctoral committeeswere chaired by women. The main areas of the theses were:education, nursing, psychology and medicine. The most covered itemwas work, including occupational stress and working conditions ofnursing personnel.Conclusion: even though women account for a large amount of thesisauthorship, the proportion is lower to that of the total number ofnursing professionals in the country. On the other hand, the greaternumber of men in the doctoral committee indicated the difficultiesfound by women, and particularly by nurses, to hold posts of greatersocial prestige, which reproduces the unequal relationships of genderand power distribution in the profession as well as in the university.It is however important to highlight that there are still few researchprojects associated with doctorate courses in nursing (AU)


Assuntos
Humanos , Educação em Enfermagem/tendências , Saúde de Gênero , Identidade de Gênero , Dissertações Acadêmicas como Assunto , Pesquisa em Enfermagem/tendências , Indicadores de Produção Científica
15.
Hist. enferm., Rev. eletronica ; 2(1): 16-37, Jan-Jul. 2011. ilus
Artigo em Espanhol | BDENF - Enfermagem | ID: biblio-1028925

RESUMO

A lo largo del siglo XX la imagen de la mujer enfermera se ha utilizado progresivamente desde ámbitos muy diversos y con fines no siempre claros, aunque se intenten disfrazar con otros matices. Ellos serían en primer lugar el bienestar y la salud, tal como defienden algunas empresas. Otras valoraciones van en la línea del uso de la imagen enfermera para la venta de ocio y el fomento del consumo, sin olvidar la transmisión de los valores que adornan tradicionalmente a las enfermeras: paz, abnegación, caridad, eficacia, que también están siendo usados con diversas finalidades como la venta de artículos. Según el análisis de las fuentes iconográficas, podemos afirmar que están en la línea de la más pura utilización de la mujer-enfermera para los fines y los intereses más variados y tradicionales de la sociedad patriarcal en la que seguimos inmersos. Pero si esto resulta como realmente parece, debería de servir de llamada de alerta para la profesión y los profesionales y su rol en la sociedad - es


Assuntos
Enfermagem , História da Enfermagem , Identidade de Gênero
18.
Clin Vaccine Immunol ; 15(9): 1489-93, 2008 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-18667633

RESUMO

The associations of circulating 20S proteasomes (c20S) with clinical and serologic disease indices in patients with systemic lupus erythematosus (SLE) and mixed connective tissue disease (MCTD) are unknown. We present the initial report that c20S levels are elevated in MCTD and correlate with clinically relevant changes in disease activity in SLE and MCTD.


Assuntos
Lúpus Eritematoso Sistêmico/fisiopatologia , Doença Mista do Tecido Conjuntivo/fisiopatologia , Complexo de Endopeptidases do Proteassoma/sangue , Adulto , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estatística como Assunto
19.
J Rheumatol ; 35(3): 429-37, 2008 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-18260175

RESUMO

OBJECTIVE: A cross-sectional study of mixed connective tissue disease (MCTD) was performed to determine if there were identifiable differences in the clinical expression of MCTD associated with race or ethnicity. METHODS: Miami, Florida, and Midwestern US (Missouri) Caucasian MCTD cohorts were studied. Clinical and laboratory features of the 2 MCTD cohorts were compared. A concurrently collected cohort of Sm-positive patients with systemic lupus erythematosus (SLE) was studied as a control. Disease activity and severity and functional status were measured. CD4+CD25(high)-expressing T-regulatory cells were enumerated and serum soluble L selectin was measured as biomarkers of disease activity. RESULTS: The Miami and Missouri Caucasian MCTD groups, while differing from the SLE group, were largely similar; however, gastroesophageal reflux, sclerodactyly, and malar rash were significantly more frequent in the Missouri MCTD group and alopecia was more frequent in the Miami MCTD group. Significant clinical and laboratory differences were found between the Miami MCTD and Miami SLE groups despite similar disease duration, activity, severity and functional status. Raynaud's phenomenon (RP), hand swelling, synovitis, myositis, and sclerodactyly were all significantly more common in RNP-positive MCTD versus Sm-positive SLE subjects. CONCLUSION Ethnic differences were observed in the frequency of end-organ involvement in the Miami MCTD versus the Missouri Caucasian MCTD groups. Clinical and laboratory features of all MCTD groups were clearly different from the SLE group, despite similar disease activity, disease severity, and functional status. Disease activity measures appeared to behave similarly as valid measures of disease activity in SLE and MCTD.


Assuntos
Selectina L/sangue , Lúpus Eritematoso Sistêmico/imunologia , Doença Mista do Tecido Conjuntivo/etnologia , Doença Mista do Tecido Conjuntivo/imunologia , Linfócitos T Reguladores , Adolescente , Adulto , Negro ou Afro-Americano/etnologia , Idoso , Estudos de Casos e Controles , Estudos Transversais , Florida/epidemiologia , Hispânico ou Latino/etnologia , Humanos , Lúpus Eritematoso Sistêmico/etnologia , Pessoa de Meia-Idade , Missouri/epidemiologia , Índice de Gravidade de Doença , População Branca/etnologia
20.
J Child Neurol ; 22(2): 218-21, 2007 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-17621487

RESUMO

The authors report the case of a pair of siblings with 3-methylglutaconic aciduria type 4 manifesting as Leigh syndrome. Disease progression was monitored from birth until the present. Both patients fulfilled the diagnostic criteria for Leigh syndrome along with increased urinary excretion of 3-methylglutaconic acid and 3-methylglutaric acid (biochemical markers of methylglutaric acid) in several determinations. No mitochondrial respiratory chain defects in muscle biopsy were detected. Although mitochondrial abnormalities are the most common known cause of Leigh syndrome, there have been several reports of links with nonmitochondrial metabolic disorders. Descriptions of 3-methylglutaric acid type 4 associated with Leigh syndrome are rare.


Assuntos
Encefalopatias Metabólicas/complicações , Glutaratos/urina , Doença de Leigh/complicações , Encefalopatias Metabólicas/patologia , Encefalopatias Metabólicas/urina , Pré-Escolar , Feminino , Humanos , Lactente , Doença de Leigh/patologia , Doença de Leigh/urina , Imageamento por Ressonância Magnética , Masculino , Irmãos
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