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2.
Estud. pesqui. psicol. (Impr.) ; 22(2): 773-793, jun. 2022.
Artigo em Português | LILACS, Index Psicologia - Periódicos | ID: biblio-1428971

RESUMO

A avaliação da motivação para aprender é um aspecto relevante em contextos educacionais, pois a motivação pode influenciar o engajamento dos estudantes, sua aprendizagem e seu desempenho em tarefas acadêmicas. O objetivo deste estudo foi propor uma versão breve da Escala de Motivação para Aprendizagem em Universitários (EMAPRE-U Breve). A EMAPRE-U é uma escala de 28 itens que avalia três dimensões motivacionais: meta aprender, meta performance-aproximação e meta performance-evitação. Participaram do estudo 525 universitários do primeiro ano de graduação de uma universidade pública. Através de análises fatoriais exploratórias e de conteúdo dos itens chegou-se a uma versão com 15 itens. Análises fatoriais confirmatórias e de correlação com construtos relacionados forneceram evidências de validade para a medida breve, e indicaram um bom ajuste dos dados ao modelo trifatorial. Os resultados sugerem que o instrumento tem o potencial de contribuir para a avaliação da motivação para aprendizagem na educação superior, ainda que aprimoramentos possam ser feitos no futuro.


The assessment of motivation to learn is a relevant aspect in educational contexts as motivation can influence student engagement, learning, and performance in academic tasks. The aim of this study was to propose a brief version of the Motivation Scale for Learning in University Students (EMAPRE-U Brief). The EMAPRE-U is a 28-item scale that assesses three motivational dimensions: the learning goal, the performance-approach goal, and the performance-avoidance goal. The study included 525 first-year undergraduate students at a public university. Through exploratory factor analysis and item content analysis, a 15-item version was developed. Confirmatory factor analysis and correlation with theoretically related constructs provided evidence of validity for the brief measure and indicated a good fit of the data to the three-factor model. The results suggest that the instrument has the potential to contribute to the assessment of motivation for learning in higher education, although improvements could be made in the future.


La evaluación de la motivación para aprender es un aspecto relevante en los contextos educativos, ya que la motivación puede influir en el compromiso, aprendizaje y desempeño del estudiante en las tareas académicas. El objetivo de este estudio fue proponer una versión breve de la Escala de Motivación para el Aprendizaje en Estudiantes Universitarios (EMAPRE-U Brief). La EMAPRE-U es una escala de 28 ítems que evalúa tres dimensiones motivacionales: metas de aprendizaje, metas de aproximación al rendimiento y metas de evitación del rendimiento. El estudio incluyó a 525 estudiantes de primer año de pregrado de una universidad pública. A través del análisis factorial exploratorio y el contenido de los ítems, se llegó a una versión de 15 ítems. Los análisis factoriales confirmatorios y las correlaciones con constructos relacionados proporcionaron evidencia de validez para la versión breve, e indicaron un buen ajuste de los datos al modelo de tres factores. Los resultados sugieren que el instrumento tiene el potencial de contribuir a la evaluación de la motivación para el aprendizaje en la educación superior, aunque podrían realizarse mejoras en el futuro.


Assuntos
Humanos , Masculino , Feminino , Estudantes , Universidades , Desempenho Acadêmico , Aprendizagem , Motivação , Angústia Psicológica
3.
BMC Rheumatol ; 6(1): 20, 2022 Apr 01.
Artigo em Inglês | MEDLINE | ID: mdl-35361289

RESUMO

BACKGROUND: Dermatomyositis belongs to an infrequent group of diseases predominantly found in patients older than 40 years old and is characterized by dermal and muscular findings. This disease presents itself as proximal, ascending and symmetric weakness and typical dermatosis with findings such as elevated muscle enzymes, altered electromyography and typical changes in muscle biopsy; as of today, the etiology of the disease in unknown. The COVID-19 vaccine has been a fundamental tactic to achieve control of the coronavirus (SARS CoV2), and it's clear that the benefits of getting the vaccine overweight the risks that might come along with it. Although rare, all adverse effects should be reported, this could help us to understand the elusive pathophysiology of inflammatory idiopathic myopathy. CASE PRESENTATION: In this text we will describe the case of a patient with dermatomyositis who was vaccinated against SARS CoV2 with BNT162b2 mRNA (Pfizer-BioNTech), showing a temporal relation between the vaccination and the beginning of her symptoms. We realized all the diagnostic approach to the suspected disease including electromyography, muscle biopsy and laboratory findings, corroborating the diagnosis. The patient received standard treatment for this disease (steroid therapy) and have a classic slow improvement. CONCLUSIONS: Although it´s not possible to confirm a direct correlation between the vaccine and the onset of the disease, we considered that there are enough data to suspect that this could be a trigger event and therefore should always be considered a possible cause for a case of inflammatory idiopathic myopathy.

4.
EMBO J ; 40(21): e108648, 2021 11 02.
Artigo em Inglês | MEDLINE | ID: mdl-34542926

RESUMO

So-called ρ0 cells lack mitochondrial DNA and are therefore incapable of aerobic ATP synthesis. How cells adapt to survive ablation of oxidative phosphorylation remains poorly understood. Complexome profiling analysis of ρ0 cells covered 1,002 mitochondrial proteins and revealed changes in abundance and organization of numerous multiprotein complexes including previously not described assemblies. Beyond multiple subassemblies of complexes that would normally contain components encoded by mitochondrial DNA, we observed widespread reorganization of the complexome. This included distinct changes in the expression pattern of adenine nucleotide carrier isoforms, other mitochondrial transporters, and components of the protein import machinery. Remarkably, ablation of mitochondrial DNA hardly affected the complexes organizing cristae junctions indicating that the altered cristae morphology in ρ0 mitochondria predominantly resulted from the loss of complex V dimers required to impose narrow curvatures to the inner membrane. Our data provide a comprehensive resource for in-depth analysis of remodeling of the mitochondrial complexome in response to respiratory deficiency.


Assuntos
Adaptação Fisiológica , Mitocôndrias/metabolismo , Proteínas Mitocondriais/genética , Complexos Multiproteicos/genética , Trifosfato de Adenosina/metabolismo , Linhagem Celular Tumoral , DNA Mitocondrial/genética , DNA Mitocondrial/metabolismo , Expressão Gênica , Humanos , Mitocôndrias/patologia , Membranas Mitocondriais/química , Membranas Mitocondriais/metabolismo , Proteínas Mitocondriais/deficiência , Complexos Multiproteicos/deficiência , Osteoblastos/metabolismo , Osteoblastos/patologia , Fosforilação Oxidativa
5.
Pathogens ; 10(7)2021 Jun 30.
Artigo em Inglês | MEDLINE | ID: mdl-34208827

RESUMO

Toxoplasmosis is a disease, which was discovered in 1908, caused by the intracellular parasite Toxoplasma gondii. T. gondii infects neuronal, glial, and muscle cells, and chronic infections are characterized by the presence of cysts, in the brain and muscle cells, formed by bradyzoites. T. gondii is capable of synthesizing L-DOPA, a precursor of dopamine. Dopamine is a neurotransmitter that is key in the etiology of neuropsychological disorders such as schizophrenia. Previous studies have shown high levels of IgG Toxoplasma antibodies in schizophrenia patients. Many published studies show that the prevalence of toxoplasmosis is higher in schizophrenia patients. In this study, we aimed to identify the prevalence of Toxoplasma infection in patients with schizophrenia and the relationships between, sociodemographic factors and the Brief Psychiatric Rating Scale. A total of 27 schizophrenic patients were included and IgG anti-T. gondii was determined in serum samples by ELISA. The Brief Psychiatric Rating Scale, sociodemographic factors were associated with seropositivity. We found that the prevalence of Toxoplasma antibodies was 51.7%. In the Brief Psychiatric Rating Scale, statistical significant association (p = 0.024) was found in Item 13 which is related to motor retardation, however, the association turned non-significant after of correction for multiple tests or after of analyzed with a logistic regression p = 0.059, odds ratio (OR) = 2.316 with a 95% confidence interval [0.970 to 5.532]. Other association was not found between toxoplasmosis and others factors. The prevalence of toxoplasmosis on our population under study was significantly higher than that reported by general population or other group of Mexican schizophrenia patients.

6.
Biochim Biophys Acta Bioenerg ; 1862(9): 148448, 2021 09 01.
Artigo em Inglês | MEDLINE | ID: mdl-34015258

RESUMO

Complexome profiling is a rapidly spreading, powerful technique to gain insight into the nature of protein complexes. It identifies and quantifies protein complexes separated into multiple fractions of increasing molecular mass using mass spectrometry-based, label-free bottom-up proteomics. Complexome profiling enables a sophisticated and thorough characterization of the composition, molecular mass, assembly, and interactions of protein complexes. However, in practice, its application is limited by the large number of samples it generates and the related time of mass spectrometry analyses. Here, we report an improved process workflow that implements tandem mass tags for multiplexing complexome profiling. This workflow substantially reduces the number of samples and measuring time without compromising protein identification or quantification reliability. In profiles from mitochondrial fractions of cells recovering from chloramphenicol treatment, tandem mass tags-multiplexed complexome profiling exhibited migration patterns of mature ATP synthase (complex V) and assembly intermediates that were consistent in composition and abundance with profiles obtained by the label-free approach. Reporter ion quantifications of proteins and complexes unaffected by the chloramphenicol treatment presented less variation in comparison to the label-free method. Incorporation of tandem mass tags enabled an efficient and robust complexome profiling analysis and may foster broader application for protein complex profiling in biomedical research and diagnostics.


Assuntos
Cloranfenicol/química , ATPases Mitocondriais Próton-Translocadoras/química , Proteômica/métodos , Espectrometria de Massas em Tandem/métodos , Linhagem Celular , Cromatografia Líquida de Alta Pressão , Humanos , Peptídeos/química , Reprodutibilidade dos Testes , Coloração e Rotulagem , Fatores de Tempo
7.
Rev. latinoam. cienc. soc. niñez juv ; 19(1): 41-62, ene.-abr. 2021. tab
Artigo em Espanhol | LILACS | ID: biblio-1251876

RESUMO

Resumen (analítico) El artículo analiza la función de los Centros de Día de Menores (CDM) como recursos especializados en la intervención socioeducativa con adolescentes en riesgo. Se trata de una investigación cualitativa, en la que se han integrado diferentes técnicas con el fin de triangular evidencias objetivas. En el plano metodológico participó una muestra de 30 profesionales, implementando diferentes técnicas: entrevistas y grupos de discusión. Los datos obtenidos se codificaron y categorizaron. Los resultados destacan la especificidad de los CDM como recurso de proximidad en el proceso de socialización y de acompañamiento progresivo, individualizado y flexible de adolescentes en riesgo. Las conclusiones inciden en la especialización del recurso en la atención a adolescentes que atraviesan procesos vitales complejos y en la consolidación del recurso como alternativa socioeducativa a la educación formal, utilizando en el territorio como generador de oportunidades.


Abstract (analytical) The article analyzes the role of Community Youth Centers (CDMs for their initials in Spanish) as a specialized resource for socio-educational interventions with at-risk adolescents. This is a qualitative investigation in which different techniques have been integrated in order to triangulate objective evidence. At the methodological level, 30 staff participated in different data collection processes (two discussion groups as well as semi-structured interviews). The data obtained was codified and categorized. The results highlight the specificity of the CDMs as an available resource for the process of socialization and the provision of gradual, progressive, individualized and flexible accompaniment to at-risk adolescents. The conclusions of the study recommend the specialization of the CDMs to support adolescents who are experiencing complex life processes and the consolidation of these centers as a socio-educational alternative that generates opportunities.


Resumo (analítico) O artigo analisa o papel desenvolvido pelos Centros de Dia de Menores (CDM) na intervenção socioeducativa com adolescentes em risco. Tratase de uma investigação qualitativa, na qual diferentes técnicas foram implementadas para triangular evidências objetivas. Ao nível metodológico, 30 profissionais participaram em grupos de discussão e entrevistas semiestruturadas. Os resultados destacam a especificidade do CDM como um recurso de proximidade no acompanhamento gradual, progressivo, individualizado e flexível de adolescentes em risco. As conclusões incidem sobre a especialização deste recurso na educação de adolescentes nos seus processos de vida complexos e na sua consolidação como alternativa socioeducativa à educação formal.


Assuntos
Adolescente , Educação
8.
Ann Hepatol ; 22: 100237, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-32835861

RESUMO

Infected hepatic echinococcosis (IHE), defined as a cystic infection, and the development of a liver abscess may be a complication in the natural history of hepatic echinococcosis. The aim of this study was to review the evidence available related to clinical, therapeutic, and prognostic aspects of IHE. We conducted a systematic review. Trip Database, BIREME-BVS, SciELO, LILACS, IBECS, PAHO-WHO; WoS, EMBASE, SCOPUS and PubMed were consulted. Studies related to IHE in humans, without language restriction, published between 1966 and 2020 were considered. Variables studied were publication year, geographical origin of the samples, number of patients, therapeutic and prognosis aspects, and methodological quality (MQ) for each article. Descriptive statistics was applied. Subsequently, weighted averages (WA) of the MQ of each article were calculated for each variable of interest. 960 related articles were identified; 47 fulfilled selection criteria, including 486 patients with a median age of 48 years, 51.6% being male. The largest proportion of articles were from Spain, India, and Greece (36.1%). Mean cyst diameter was 14.1 cm, and main location was right liver lobe (74.0%). WA for morbidity, mortality, hospital stay, and follow-up were 28.5%, 7.4%, 8.5 days and 14.8 months, respectively. The most common causative microorganisms of superinfection isolated were Enterobacteriaceae. An association with cholangitis was reported in 13.4% of cases. Mean MQ of the 47 articles included was 7.6 points. We can conclude that the information related to IHE is scarce and scattered throughout articles of small casuistry and poor quality, and consequently does not provide strong evidence.


Assuntos
Equinococose Hepática/diagnóstico , Equinococose Hepática/terapia , Equinococose Hepática/mortalidade , Humanos , Prognóstico
9.
Salud ment ; 43(5): 227-233, Sep.-Oct. 2020. tab, graf
Artigo em Inglês | LILACS-Express | LILACS | ID: biblio-1145104

RESUMO

Abstract Introduction Burnout syndrome (BOS) comprises emotional exhaustion, depersonalization, and reduced personal accomplishment in those affected. Instruments such as the Maslach Burnout Inventory (MBI) can help to identify those affected. Physicians in training have been described as an at-risk group for this syndrome. Objective Describe the association between BOS and medical training by specialty in first-year residents. Method This is a cross-sectional analytical study of specialty residents at the Hospital Civil de Guadalajara. Sociodemographic data were obtained and the MBI was administered to identify BOS. Samples were compared, and a comparative analysis performed to identify factors associated with BOS. Results Eighty-eight residents were included, with 21.6% (n = 19) presenting BOS, 53.4% displaying emotional exhaustion (n = 47), 53.7% showing depersonalization (n = 47), and 39.8% reduced personal accomplishment (n = 35). Presenting BOS was not associated with sociodemographic characteristics or type of specialty. Work hours (ro = .229, p = .032), and a higher number of on-call hours/week (ro = .34, p = .001) were associated with higher BOS. Discussion and conclusion The prevalence of BOS was lower than expected. Over half scored for emotional exhaustion and depersonalization, which could be explained by a self-reporting bias. There was no association between the group/type of specialty and BOS. This study creates new knowledge that works as an institutional situational diagnosis, helps to determine the scope of the problem, and encourages to consider the contributing factors to its origin and maintenance.


Resumen Introducción El síndrome de burnout (SBO) comprende el agotamiento emocional, la despersonalización y la reducción de la realización personal en aquellos a quienes afecta. Instrumentos como el Maslach Burnout Inventory (MBI) pueden ayudar a identificar a los afectados. Los médicos en formación se han descrito como un grupo de riesgo para presentar este síndrome. Objetivo Describir la asociación entre el síndrome de burnout y la formación médica por especialidad en residentes de primer año. Método Se trata de un estudio analítico transversal de residentes de especialidad del Hospital Civil de Guadalajara. Se obtuvieron datos sociodemográficos y se administró el MBI para identificar SBO. Se compararon las muestras y se realizó un análisis comparativo para identificar los factores asociados con SBO. Resultados Se incluyeron 88 residentes, con 21.6% (n = 19) presentando SBO; 53.4% mostrando agotamiento emocional (n = 47); 53.7% (n = 47) mostrando despersonalización; y 39.8% (n = 35) reducción de realización personal. La presentación de SBO no se asoció a características sociodemográficas ni al tipo de especialidad. Las horas de trabajo (ro = .229, p = .032) y un mayor número de horas de guardia/semana (ro = .34, p = .001) se asociaron con una mayor BOS. Discusión y conclusión La prevalencia de SBO fue menor de lo esperado. Más de la mitad puntuó por agotamiento emocional y despersonalización, lo que podría explicarse por un sesgo en la autoevaluación. No hubo asociación entre el grupo/tipo de especialidad y SBO. Este estudio genera nuevos conocimientos que funcionan como un diagnóstico situacional institucional, ayuda a determinar el alcance del problema y alienta a considerar los factores que contribuyen a su origen y mantenimiento.

10.
Int. j. morphol ; 38(2): 406-414, abr. 2020. tab, graf
Artigo em Inglês | LILACS | ID: biblio-1056455

RESUMO

Although infrequent in the diagnostics areas, liver abscesses are of significant relevance, which is related to the high morbidity and mortality figures they can cause if they are not detected and treated in time. Although multiple operational classifications are described, the one most recognized for its usefulness is that related to its causative agent (pyogenic or bacterial infection, hydatid origin or secondary to infected hydatidosis, and amoebic or by invasive amebiasis). The objective of this article was to generate a study report regarding the morphological characteristics of liver abscesses, characterizing them according to their etiology, as well as describing their study and the latest recommended treatments.


Los abscesos hepáticos son entidades nosológicas de baja frecuencia, pero de significativa relevancia, la que se relacionada con las elevadas cifras de morbilidad y mortalidad que pueden causar si no son detectados y tratados a tiempo. Si bien se describen múltiples clasificaciones operacionales, aquella más reconocida por su utilidad es la relacionada a su agente causal (piógenos o bacterianos, hidatídicos o secundarios a hidatidosis infectada, y amebianos o por amebiasis invasora). El objetivo de este artículo fue generar un documento de estudio respecto de las características morfológicas de los abscesos hepáticos, caracterizándolos de acuerdo con su etiología, así como describir su estudio y tratamiento recomendado de acuerdo con el estado del arte.


Assuntos
Humanos , Equinococose Hepática/patologia , Abscesso Hepático/patologia , Abscesso Hepático Piogênico/patologia , Equinococose Hepática/etiologia , Abscesso Hepático/etiologia , Abscesso Hepático Amebiano/patologia
11.
Psicol. teor. prát ; 22(1): 41-63, Jan.-Apr. 2020. ilus, tab
Artigo em Inglês | LILACS, Index Psicologia - Periódicos | ID: biblio-1098538

RESUMO

This study aimed to adapt to the Brazilian Portuguese the O*NET Interests Profiler - Short Form. The instrument evaluates vocational interests according to the RIASEC model, which includes six types (Realistic, Investigative, Artistic, Social, Enterprising, and Conventional). Validity evidence was obtained through Principal Components Analysis, Multidimensional Scaling, correlations between secondary concepts from the theoretical model, and contrasts between groups. PCA results, the contrasts between selected occupational groups and correlational results between secondary concepts followed the theoretical expectations. However, the MDS results did not fully confirm the hexagonal structure. Overall results suggest the adapted instrument has acceptable evidence of validity. Further studies are suggested to increase the suitability of the Brazilian version of the instrument.


O objetivo deste estudo foi adaptar o O*NET Interests Profiler - Short Form para o português brasileiro. O instrumento avalia interesses vocacionais de acordo com o modelo RIASEC, que inclui seis dimensões (Realista, Investigativo, Artístico, Social, Empreendedor e Convencional). As evidências de validade foram obtidas por meio da Análise de Componentes Principais, Escalonamento Multidimensional, correlações entre os conceitos secundários do modelo teórico e contrastes entre grupos ocupacionais. Os resultados da ACP, dos contrastes entre os grupos selecionados e dos resultados das correlações entre os conceitos secundários confirmaram as expectativas teóricas. No entanto, os resultados do EMD não confirmaram totalmente a estrutura hexagonal. Em geral, os resultados sugerem que o instrumento adaptado apressenta evidências aceitáveis de validade. Estudos adicionais são sugeridos para aumentar a adequação da versão brasileira do instrumento.


Este estudio tuvo como objetivo adaptar al portugués brasileño el O*NET Interests Profiler - Short Form. El instrumento evalúa los intereses vocacionales de acuerdo con el modelo RIASEC, que incluye seis dimensiones (Realista, Investigativo, Artístico, Social, Emprendedor y Convencional). Las evidencias de validez se obtuvieron mediante Análisis de Componentes Principales, Escalamiento Multidimensional, correlaciones entre los conceptos secundarios del modelo teórico y contrastes entre grupos ocupacionales. Los resultados del PCA, los contrastes entre los grupos seleccionados y los resultados de las correlaciones entre los conceptos secundarios confirmaron las expectativas teóricas. Sin embargo, los resultados del MDS solo confirmaron parcialmente la estructura hexagonal. Los resultados sugieren que el instrumento adaptado tiene evidencias aceptables de validez y confiabilidad. Se sugieren estudios adicionales para aumentar la idoneidad de la versión brasileña del instrumento.


Assuntos
Orientação Vocacional , Escolha da Profissão , Análise de Escalonamento Multidimensional
12.
Am J Hum Genet ; 102(4): 685-695, 2018 04 05.
Artigo em Inglês | MEDLINE | ID: mdl-29576219

RESUMO

Biogenesis of the mitochondrial oxidative phosphorylation system, which produces the bulk of ATP for almost all eukaryotic cells, depends on the translation of 13 mtDNA-encoded polypeptides by mitochondria-specific ribosomes in the mitochondrial matrix. These mitoribosomes are dual-origin ribonucleoprotein complexes, which contain mtDNA-encoded rRNAs and tRNAs and ∼80 nucleus-encoded proteins. An increasing number of gene mutations that impair mitoribosomal function and result in multiple OXPHOS deficiencies are being linked to human mitochondrial diseases. Using exome sequencing in two unrelated subjects presenting with sensorineural hearing impairment, mild developmental delay, hypoglycemia, and a combined OXPHOS deficiency, we identified mutations in the gene encoding the mitochondrial ribosomal protein S2, which has not previously been implicated in disease. Characterization of subjects' fibroblasts revealed a decrease in the steady-state amounts of mutant MRPS2, and this decrease was shown by complexome profiling to prevent the assembly of the small mitoribosomal subunit. In turn, mitochondrial translation was inhibited, resulting in a combined OXPHOS deficiency detectable in subjects' muscle and liver biopsies as well as in cultured skin fibroblasts. Reintroduction of wild-type MRPS2 restored mitochondrial translation and OXPHOS assembly. The combination of lactic acidemia, hypoglycemia, and sensorineural hearing loss, especially in the presence of a combined OXPHOS deficiency, should raise suspicion for a ribosomal-subunit-related mitochondrial defect, and clinical recognition could allow for a targeted diagnostic approach. The identification of MRPS2 as an additional gene related to mitochondrial disease further expands the genetic and phenotypic spectra of OXPHOS deficiencies caused by impaired mitochondrial translation.


Assuntos
Alelos , Perda Auditiva Neurossensorial/genética , Hipoglicemia/genética , Doenças Mitocondriais/genética , Proteínas Mitocondriais/genética , Mutação/genética , Proteínas Ribossômicas/genética , Sequência de Aminoácidos , Pré-Escolar , Análise Mutacional de DNA , DNA Mitocondrial/genética , Feminino , Fibroblastos/metabolismo , Perda Auditiva Neurossensorial/complicações , Humanos , Hipoglicemia/complicações , Lactente , Recém-Nascido , Masculino , Doenças Mitocondriais/complicações , Proteínas Mitocondriais/química , Fosforilação Oxidativa , Subunidades Proteicas/genética , RNA Ribossômico/genética , Proteínas Ribossômicas/química
13.
An Pediatr (Engl Ed) ; 88(5): 266-272, 2018 May.
Artigo em Espanhol | MEDLINE | ID: mdl-28844312

RESUMO

INTRODUCTION: Obstructive sleep apnoea (OSA) is highly prevalent in children and a major public health problem. An attempt is made to determine the clinical and polysomnographic presentation of paediatric OSA in our area. PATIENTS AND METHODS: Retrospective descriptive study of sleep tests conducted on children up to 14 years-old from 1999 to 2012 in the Sleep Unit of the University Hospital of Albacete. Age, gender, anthropometric, clinical data, indication and variables of sleep study, treatment, and outcomes were collected. RESULTS: The study included 234 children. OSA was found in 71.8%, with 42.3% moderate and 44.6% severe. The majority were male (60.7%) and the mean age 5 was years, of whom 78% were pre-school or school age. There was overweight/obesity in 44%, with 93.4% snoring, apnoea 84.5%, and 5.4% daytime sleepiness. There were 23 polysomnographies and 145 polygraphies, with a median apnoea/hypopnoea index (AHI) of 10, Sat.O2 minimum 84%, desaturation index 8, and mean sleep supine 53.65% and supine events 57.61%. Treatment was lifestyle modifications 29.2%, CPAP 6%, and surgery 42.9%. Improved snoring and/or apnoea 69.4%, and weight 32.4% of overweight/obesity children. CONCLUSIONS: Most of the studied children had a pathological AHI. Almost half were overweight/obese, and a high percentage had moderate-severe OSA. Most frequent treatment was surgery. The clinical outcome was favourable in almost 70%. Less than a third with OSA and overweight/obesity improved weight.


Assuntos
Apneia Obstrutiva do Sono , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Polissonografia , Estudos Retrospectivos , Apneia Obstrutiva do Sono/diagnóstico , Apneia Obstrutiva do Sono/terapia
14.
J Am Coll Cardiol ; 70(14): 1732-1740, 2017 Oct 03.
Artigo em Inglês | MEDLINE | ID: mdl-28958330

RESUMO

BACKGROUND: Genetic screening programs in unselected individuals with increased levels of low-density lipoprotein cholesterol (LDL-C) have shown modest results in identifying individuals with familial hypercholesterolemia (FH). OBJECTIVES: This study assessed the prevalence of genetically confirmed FH in patients with acute coronary syndrome (ACS) and compared the diagnostic performance of FH clinical criteria versus FH genetic testing. METHODS: Genetic study of 7 genes (LDLR, APOB, PCSK9, APOE, STAP1, LDLRAP1, and LIPA) associated with FH and 12 common alleles associated with polygenic hypercholesterolemia was performed in 103 patients with ACS, age ≤65 years, and LDL-C levels ≥160 mg/dl. Dutch Lipid Clinic (DLC) and Simon Broome (SB) FH clinical criteria were also applied. RESULTS: The prevalence of genetically confirmed FH was 8.7% (95% confidence interval [CI]: 4.3% to 16.4%; n = 9); 29% (95% CI: 18.5% to 42.1%; n = 18) of patients without FH variants had a score highly suggestive of polygenic hypercholesterolemia. The prevalence of probable to definite FH according to DLC criteria was 27.2% (95% CI: 19.1% to 37.0%; n = 28), whereas SB criteria identified 27.2% of patients (95% CI: 19.1% to 37.0%; n = 28) with possible to definite FH. DLC and SB algorithms failed to diagnose 4 (44%) and 3 (33%) patients with genetically confirmed FH, respectively. Cascade genetic testing in first-degree relatives identified 6 additional individuals with FH. CONCLUSIONS: The prevalence of genetically confirmed FH in patients with ACS age ≤65 years and with LDL-C levels ≥160 mg/dl is high (approximately 9%). FH clinical algorithms do not accurately classify patients with FH. Genetic testing should be advocated in young patients with ACS and high LDL-C levels to allow prompt identification of patients with FH and relatives at risk.


Assuntos
Síndrome Coronariana Aguda , LDL-Colesterol/sangue , Hiperlipoproteinemia Tipo II , Hipolipemiantes/uso terapêutico , Herança Multifatorial/genética , Síndrome Coronariana Aguda/diagnóstico , Síndrome Coronariana Aguda/epidemiologia , Síndrome Coronariana Aguda/prevenção & controle , Proteínas Adaptadoras de Transdução de Sinal/genética , Apolipoproteína B-100/genética , Apolipoproteínas E/genética , Comorbidade , Feminino , Testes Genéticos/métodos , Humanos , Hiperlipoproteinemia Tipo II/diagnóstico , Hiperlipoproteinemia Tipo II/tratamento farmacológico , Hiperlipoproteinemia Tipo II/epidemiologia , Hiperlipoproteinemia Tipo II/genética , Masculino , Pessoa de Meia-Idade , Seleção de Pacientes , Prevalência , Prognóstico , Pró-Proteína Convertase 9/genética , Receptores de LDL/genética , Reprodutibilidade dos Testes , Medição de Risco/métodos , Fatores de Risco , Espanha/epidemiologia , Esterol Esterase/genética
15.
Rev. Col. Méd. Cir. Guatem ; 156(1): 11-14, 2017 jul. tab
Artigo em Espanhol | LILACS | ID: biblio-908634

RESUMO

Las enfermedades infecciosas crónicas constituyen un problema de salud pública mundial al ser importante causa de mortalidad. En Guatemala no existen estudios postmortem recientes que aborden dicho tema, por lo que se desconoce su prevalencia en autopsias clínicas del país. El presente estudio se delimita las siguientes enfermedades: tuberculosis, candidiasis, neurocisticercosis, aspergilosis, coccidioidomicosis e histoplasmosis. Objetivo: determinar la prevalencia de las enfermedades infecciosas crónicas en autopsias clínicas. Material y Métodos: investigación descriptiva retrospectiva, basada en los datos de 909 boletas de protocolos completos de autopsias clínicas realizadas del año 2006 al 2015 en el Departamento de patología en el Hospital General San Juan de Dios de Guatemala


Assuntos
Humanos , Masculino , Feminino , Pré-Escolar , Criança , Tuberculose/mortalidade , Candidíase/epidemiologia , Doenças Transmissíveis/epidemiologia , Estudos Retrospectivos , Neurocisticercose/epidemiologia , Autopsia/estatística & dados numéricos
16.
Cell Rep ; 18(7): 1727-1738, 2017 02 14.
Artigo em Inglês | MEDLINE | ID: mdl-28199844

RESUMO

The biogenesis of human cytochrome c oxidase (COX) is an intricate process in which three mitochondrial DNA (mtDNA)-encoded core subunits are assembled in a coordinated way with at least 11 nucleus-encoded subunits. Many chaperones shared between yeast and humans are involved in COX assembly. Here, we have used a MT-CO3 mutant cybrid cell line to define the composition of assembly intermediates and identify new human COX assembly factors. Quantitative mass spectrometry analysis led us to modify the assembly model from a sequential pathway to a module-based process. Each module contains one of the three core subunits, together with different ancillary components, including HIGD1A. By the same analysis, we identified the short isoform of the myofibrillogenesis regulator 1 (MR-1S) as a new COX assembly factor, which works with the highly conserved PET100 and PET117 chaperones to assist COX biogenesis in higher eukaryotes.


Assuntos
Proteínas Adaptadoras de Transdução de Sinal/metabolismo , Complexo IV da Cadeia de Transporte de Elétrons/metabolismo , Proteínas Mitocondriais/metabolismo , Proteínas Musculares/metabolismo , Linhagem Celular Tumoral , Núcleo Celular/metabolismo , Células Cultivadas , DNA Mitocondrial/genética , Humanos , Mitocôndrias/genética , Mitocôndrias/metabolismo , Chaperonas Moleculares/metabolismo , Subunidades Proteicas/metabolismo
17.
Cell Metab ; 25(1): 128-139, 2017 01 10.
Artigo em Inglês | MEDLINE | ID: mdl-27720676

RESUMO

Mitochondrial complex I is the largest integral membrane enzyme of the respiratory chain and consists of 44 different subunits encoded in the mitochondrial and nuclear genome. Its biosynthesis is a highly complicated and multifaceted process involving at least 14 additional assembly factors. How these subunits assemble into a functional complex I and where the assembly factors come into play is largely unknown. Here, we applied a dynamic complexome profiling approach to elucidate the assembly of human mitochondrial complex I and its further incorporation into respiratory chain supercomplexes. We delineate the stepwise incorporation of all but one subunit into a series of distinct assembly intermediates and their association with known and putative assembly factors, which had not been implicated in this process before. The resulting detailed and comprehensive model of complex I assembly is fully consistent with recent structural data and the remarkable modular architecture of this multiprotein complex.


Assuntos
Complexo I de Transporte de Elétrons/metabolismo , Mitocôndrias/metabolismo , Linhagem Celular Tumoral , Cloranfenicol/farmacologia , Humanos , Modelos Biológicos , Complexos Multiproteicos/metabolismo , Subunidades Proteicas/metabolismo , Proteoma/metabolismo , Fatores de Tempo
18.
Interdisciplinaria ; 33(2): 283-298, Dec. 2016.
Artigo em Espanhol | LILACS | ID: biblio-841055

RESUMO

Los llamados modelos duales proponen dos tipos de procesamiento de la información, relacionados con los modos de tomar decisiones emocionales y racionales. La investigación realizada se focalizó en el estudio de la toma de decisión en soldados para el mantenimiento de la paz (i.e., Cascos Azules). Ellos integran el personal militar que envía la Organización Naciones Unidas (ONU) para mantener la paz y brindar ayuda humanitaria en zonas de conflicto. Se empleó un diseño factorial 2x2x2, con las variables independientes: modalidad decisoria, entrenamiento como soldado para la paz y saturación cultural de la situación observada, y con la variable dependiente respuesta de intervención en la situación observada. Según las reglas de la ONU, no se debería intervenir en las situaciones multiculturales presentadas en este estudio. Se corroboraron tres hipótesis: (a) la toma de decisión basada en el procesamiento racional de la información en comparación con la toma de decisión basada en el procesamiento afectivo / emocional, lleva a no intervenir, (b) los expertos en misiones militares de paz internacionales (i.e., militares con entrenamiento de casco azul) en comparación con los inexpertos (i.e., militares sin dicho entrenamiento) realizan menos intervenciones y (c) la alta saturación de elementos culturales de las escenas en comparación a las escenas de baja saturación de elementos culturales lleva a realizar menor cantidad de intervenciones. Adicionalmente, se halló que la tendencia individual a tomar decisiones racionales urgentes está asociada negativamente con el tiempo de reacción. Se discuten los resultados en relación al marco de las teorías duales.


The so called dual models that emerged in the70s suggest that there are two types of information processing with opposite characteristics to one another and are related to ways of making emotional and rational decisions. This research focused on the study of emotional and rational peace keepers' decision making. Peace keepers are military personnel that participate in United Nations Organization (UN) international forces in order to be deployed in conflict zones around the world to maintain peace and to provide humanitarian aid. In these missions, peacekeepers' behavior is ruled by codes which are committed to ensuring the highest standards of conduct in UN military operations. According to these UN rules, servicemen should not intervene in situations of not obvious risk or no imminent physical harm to civilians of the local population. It is worth noting that inappropriate peacekeepers ´interventions can have serious negative consequences in the mission. Consequently, in the predeployment stage peacekeepers are trained by qualified military personnel with core operational and cultural information related the country where they are going to be deployed to have an effective performance during their duty. At the moment of our research, Argentinian peacekeepers were deployed in Haiti. The objective of this study was to study the effects of the emotional / rational decision-making mode, the Argentine's soldiers training as peacekeeper, and the level of cultural saturation in the observed situations; over the decision to intervene in multicultural situations. For this study, a piece of software called SITDE with a series of audible videos that reflect different situations related to the UN peacekeeper mission was used. There were two SITDE versions that differed from each other due to the level of cultural representation. One version contains a set of videos with high typical Haitian´s cultural saturation. The other version, a set of homologous videos related to the other series, includes scenes with fewer aspects of Haitian´s elements. After watching each video participants had to decide whether to intervene or not to intervene in the observed scenes. They should report its decision by clicking on a screen displaying two buttons with the corresponding decision. The software recorded the participant's response and the response time of each scene. This study sought to corroborate three hypotheses about peacekeepers' decision making on culturally diverse scenes in which they had no danger of imminent attack: (a) decision making based on rational information processing compared to decision making based on affective / emotional processing leads to not intervene; (b) military experts in international peace missions (i.e., military with UN training) compared to the inexperienced (military with no UN training) make fewer interventions and (c) the high saturation of cultural elements of the scenes compared to scenes of low saturation of cultural elements leads to make fewer interventions. The hypotheses were verified through a 2 x 2 x 2 factorial design. The 2 x 2 x 2 factorial design included the independent variables decision making modality, training as peace -keepers, and cultural saturation of the observed situation; and the dependent variable intervention in the observed situation. The military personnel´s decision-making was manipulated by differentiated instruction, and the cultural saturation of scenes was manipulated by the use of the two SITDE versions. Additionally, it has been analyzed the relationship between the individual trend to the emotional / rational decision-making and relevant variables. It was found that the individual trend to the rational decision making in urgent situations is negatively associated to the reaction time. The results are discussed related to the frame of the dual theories.

19.
Mol Cell ; 64(1): 148-162, 2016 10 06.
Artigo em Inglês | MEDLINE | ID: mdl-27642048

RESUMO

Mutations in subunits of mitochondrial m-AAA proteases in the inner membrane cause neurodegeneration in spinocerebellar ataxia (SCA28) and hereditary spastic paraplegia (HSP7). m-AAA proteases preserve mitochondrial proteostasis, mitochondrial morphology, and efficient OXPHOS activity, but the cause for neuronal loss in disease is unknown. We have determined the neuronal interactome of m-AAA proteases in mice and identified a complex with C2ORF47 (termed MAIP1), which counteracts cell death by regulating the assembly of the mitochondrial Ca2+ uniporter MCU. While MAIP1 assists biogenesis of the MCU subunit EMRE, the m-AAA protease degrades non-assembled EMRE and ensures efficient assembly of gatekeeper subunits with MCU. Loss of the m-AAA protease results in accumulation of constitutively active MCU-EMRE channels lacking gatekeeper subunits in neuronal mitochondria and facilitates mitochondrial Ca2+ overload, mitochondrial permeability transition pore opening, and neuronal death. Together, our results explain neuronal loss in m-AAA protease deficiency by deregulated mitochondrial Ca2+ homeostasis.


Assuntos
Canais de Cálcio/metabolismo , Cerebelo/metabolismo , Corpo Estriado/metabolismo , Hipocampo/metabolismo , Metaloendopeptidases/genética , Mitocôndrias/metabolismo , Neurônios/metabolismo , Proteases Dependentes de ATP/genética , Proteases Dependentes de ATP/metabolismo , ATPases Associadas a Diversas Atividades Celulares , Animais , Cálcio/metabolismo , Canais de Cálcio/genética , Proteína Quinase Tipo 2 Dependente de Cálcio-Calmodulina/genética , Proteína Quinase Tipo 2 Dependente de Cálcio-Calmodulina/metabolismo , Morte Celular , Cerebelo/patologia , Corpo Estriado/patologia , Regulação da Expressão Gênica , Células HEK293 , Hipocampo/patologia , Homeostase/genética , Humanos , Transporte de Íons , Metaloendopeptidases/deficiência , Camundongos , Camundongos Endogâmicos C57BL , Camundongos Transgênicos , Mitocôndrias/patologia , Proteínas de Transporte da Membrana Mitocondrial/genética , Proteínas de Transporte da Membrana Mitocondrial/metabolismo , Poro de Transição de Permeabilidade Mitocondrial , Neurônios/patologia , Mapeamento de Interação de Proteínas , Transdução de Sinais
20.
J Interv Card Electrophysiol ; 47(1): 11-18, 2016 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-27020440

RESUMO

The Food and Drug Administration (FDA) is a large regulatory agency that monitors everything from food, tobacco, and veterinary medicine to pharmaceutical drugs and medical devices. The Mission statement of the CDRH, one of the Centers of the FDA, in its most succinct form is to protect and promote public health. This is accomplished through timely and continued access to safe, effective, and high quality medical devices. This paper aims to review the overarching principles of the Agency's review process for cardiac devices as well as highlight some of the newer programs that FDA has engaged in to facilitate innovation, device development, research, and timely market approval.


Assuntos
Aprovação de Equipamentos/normas , Técnicas Eletrofisiológicas Cardíacas/instrumentação , Técnicas Eletrofisiológicas Cardíacas/normas , Vigilância de Produtos Comercializados/normas , Avaliação da Tecnologia Biomédica/normas , United States Food and Drug Administration/normas , Aprovação de Equipamentos/legislação & jurisprudência , Guias como Assunto , Avaliação da Tecnologia Biomédica/legislação & jurisprudência , Estados Unidos
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