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INTRODUCTION: Advancements in and accessibility to effective antiretroviral therapy has improved the life expectancy of people living with HIV, increasing the proportion of people living with HIV reaching older age (≥60 years), making this population's health-related quality of life (HRQoL) more relevant. Our aim was to identify the determinants of poor HRQoL in people living with HIV aged ≥60 years and compare them with those of their younger counterparts. METHODS: We used data from the 'Vive+' study, a cross-sectional survey conducted between October 2019 and March 2020, nested within the PISCIS cohort of people living with HIV in Catalonia and the Balearic Islands, Spain. We used the 12-item short-form survey (SF-12), divided into a physical component summary (PCS) and a mental component summary (MCS), to evaluate HRQoL. We used the least absolute shrinkage and selection operator for variable selection and used multivariable regression models to identify predictors. RESULTS: Of the 1060 people living with HIV (78.6% males) who participated in the study, 209 (19.7%) were aged ≥60 years. When comparing older people living with HIV (≥60 years) and their younger counterparts, older people exhibited a worse PCS (median 51.3 [interquartile range {IQR} 46.0-58.1] vs. 46.43 [IQR 42.5-52.7], p < 0.001) but a similar MCS (median 56.0 [IQR 49.34-64.7] vs. 57.0 [IQR 48.9-66.3], p = 0.476). In the multivariable analysis, cognitive function correlated with a PCS (ß correlation factor [ß] -0.18, p = 0.014), and depressive symptoms and satisfaction with social role correlated with an MCS (ß 0.61 and ß -0.97, respectively, p < 0.001) in people living with HIV aged ≥60 years. CONCLUSION: Depressive symptoms, poor cognitive function, and lower satisfaction with social roles predict poorer HRQoL in older people living with HIV. These factors need to be considered when designing targeted interventions.
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Infecções por HIV , Qualidade de Vida , Masculino , Humanos , Idoso , Feminino , Qualidade de Vida/psicologia , Estudos Transversais , Infecções por HIV/tratamento farmacológico , Infecções por HIV/psicologia , Inquéritos e Questionários , CogniçãoRESUMO
PURPOSE: Burn patients may encounter social barriers and stigmatization. The objectives of this study were to adapt the Social Comfort Questionnaire (SCQ) into Brazilian Portuguese and to assess the psychometric properties of the adapted version. METHODS: Cross-cultural adaptation of the 8 items of the SCQ followed international guidelines. We interviewed 240 burn patients and verified the SCQ internal consistency, test-retest reliability and construct validity, correlating the scores with depression [Beck Depression Inventory (BDI)], affect/body image and interpersonal relationships [Burns Specific Health Scale-Revised (BSHS-R)] and self-esteem [Rosenberg's Self-Esteem Scale (RSES)]. We also performed a confirmatory factor analysis (CFA). RESULTS: The cross-cultural adaptation resulted in minor semantic modifications to the original SCQ version. After CFA, a reduced 6-item version showed satisfactory fit to the one-factor model (RMSEA = 0.05, CFI = 0.99, TLI = 0.99). Cronbach alpha's was 0.80, and test-retest intraclass correlation coefficient was 0.86. The final version presented a strong negative correlation with depression (BDI), and strong positive correlations with affect/body image (BSHS-R), interpersonal relationships (BSHS-R) and self-esteem (RSES) (all p < 0.001). CONCLUSION: The results showed that the SCQ Brazilian Portuguese adapted version complies with the validity and reliability criteria required for an instrument assessing social comfort in Brazilian burn patients. The Brazilian version yields a single score that is easy to interpret and well understood by patients.
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Queimaduras/psicologia , Comparação Transcultural , Psicometria/instrumentação , Qualidade de Vida/psicologia , Adulto , Brasil , Feminino , Humanos , Masculino , Conforto do Paciente , Psicometria/métodos , Reprodutibilidade dos Testes , Inquéritos e Questionários , SobreviventesAssuntos
Anestesia por Condução/efeitos adversos , Anestésicos Locais/efeitos adversos , Bloqueio Nervoso/efeitos adversos , Anestesia por Condução/métodos , Anestésicos Locais/administração & dosagem , Feminino , Humanos , Injeções , Pessoa de Meia-Idade , Bloqueio Nervoso/métodos , Ultrassonografia de Intervenção/métodosRESUMO
In this work, the cardiorespiratory pattern of patients undergoing extubation process is studied. First, the respiratory and cardiac signals were resampled, next the Symbolic Dynamics (SD) technique was implemented, followed of a dimensionality reduction applying Forward Selection (FS) and Moving Window with Variance Analysis (MWVA) methods. Finally, the Linear Discriminant Analysis (LDA) and Support Vector Machines (SVM) classifiers were used. The study analyzed 153 patients undergoing weaning process, classified into 3 groups: Successful Group (SG: 94 patients), Failed Group (FG: 39 patients), and patients who had been successful during the extubation and had to be reintubated before 48 hours, Reintubated Group (RG: 21 patients). According to the results, the best classification present an accuracy higher than 88.98 ± 0.013% in all proposed combinations.
Assuntos
Dinâmica não Linear , Análise Discriminante , Humanos , Máquina de Vetores de Suporte , Desmame do Respirador , DesmameRESUMO
The Patient Reported Outcomes Measurement Information System (PROMIS) was devised to facilitate assessment of patient self-reported health status, taking advantage of Item Response Theory. We aimed to assess measurement properties of the PROMIS Depression item bank and an 8-item static short form in a Spanish clinical sample. A three-month follow-up study of patients with active mood/anxiety symptoms (n = 218) was carried out. We assessed model unidimensionality (Confirmatory Item Factor Analysis), reliability (internal consistency and Item Information Curves), and validity (convergent-discriminant with correlations; known-groups with comparison of means and effect sizes; and criterion validity with Receiver operating Characteristics (ROC) analysis). We also assessed 3-month responsiveness to change (Cohen's effect sizes (d) in stable and recovered patients). The unidimensional model showed adequate fit (CFI = 0.97, RMSEA = 0.08). Information Curves had reliabilities over 0.90 throughout most of the score continuum. As expected, we observed high correlations with external self-reported depression, and moderate with self-reported anxiety and clinical measures. The item bank showed an increasing severity gradient from no disorder (mean = 48, SE = 0.6) to depression with comorbid anxiety (mean = 55.8, SE = 0.4). PROMIS detected depression disorder with great accuracy according to the area under the curve (AUC = 0.89). Both formats, item bank and short form, were highly responsive to change in recovered patients (d > 0.7) and had small changes in stable patients (d < 0.2). The good metric properties of the Spanish PROMIS Depression measures provide further evidence of their adequacy for monitoring depression levels of patients in clinical settings. This double check of quality (within countries and populations) supports the ability of PROMIS measures for guaranteeing fair comparisons across languages and countries in specific clinical populations.
Assuntos
Depressão/diagnóstico , Depressão/epidemiologia , Avaliação de Resultados da Assistência ao Paciente , Escalas de Graduação Psiquiátrica , Adolescente , Adulto , Distribuição por Idade , Idoso , Transtornos de Ansiedade/diagnóstico , Transtornos de Ansiedade/epidemiologia , Depressão/psicologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Reprodutibilidade dos Testes , Autorrelato , Espanha/epidemiologia , Estatísticas não Paramétricas , Fatores de Tempo , Adulto JovemRESUMO
RESUMEN La plasmocitosis cutánea es una enfermedad poco frecuente, de curso crónico y benigno, que predomina en hombres entre los 20 y 62 años, particularmente en poblaciones asiáticas. Presentamos un caso de un hombre colombianoquien presentabamáculas y placas pardo-violáceas de bordes definidos, ligeramente infiltradas en tórax posterior y dorso de pies, sin otroshallazgos. Debido a que es una enfermedad que puede tener manifestaciones extracutáneaso transformación maligna por infiltración de células plasmáticas en otros órganos, se realizaron estudios de extensión que determinaron en este paciente que el compromiso era exclusivamente cutáneo. No existe un tratamiento estándar para esta enfermedad, se han usado antibióticos, corticosteroides tópicos y sistémicos, tacrolimus tópico, quimioterapia, talidomida, fototerapia UVB de banda estrecha y azatioprina, con resultados variables.
SUMMARY Cutaneous plasmacytosis is a rare disease of chronic and benign course, which occurs more frequently in men between 20 and 62 years, particularly in Asian populations. We present the case of a Colombian man who presents macules and violet-brown patches with defined edges, slightly infiltrated in the posterior thorax and feet, without any other manifestation. Because it is a disease that can have extracutaneous manifestations or malignant transformation due to the infiltration of plasma cells in other organs, extension studies were carried out, which determinedwhich determined exclusive cutaneous involvement. There is no standard treatment for this disease, antibiotics, topical and systemic corticosteroids, topical tacrolimus, chemotherapy, thalidomide, narrow-band UVB treatment and azathioprine have been used with variable results.
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Humanos , Masculino , Idoso , Plasmócitos/patologia , Dermatopatias/tratamento farmacológico , Dermatopatias/diagnóstico , Doenças RarasRESUMO
El arco aórtico derecho es una entidad rara (prevalencia del 0,1%) que se adscribe a un grupo de malformaciones poco frecuentes y escasamente descritas en la bibliografía en su forma prenatal; sin embargo, no es infrecuente hallarlas como causa de enfermedad respiratoria o digestiva (refractarias a tratamiento) en pacientes adultos, e incluso como procesos vasculares severos con morbimortalidad elevada. Sus variantes pueden condicionar sintomatología compresiva y estar relacionadas con anomalías cardíacas (hasta 90%) y/o con la microdeleción 22q11 (hasta un 46%). El corte ecográfico de 3 vasos-tráquea es fundamental para su diagnóstico prenatal, y tras su detección está indicada una evaluación exhaustiva del corazón fetal, distinguir sus variantes y/o un estudio cromosómico-genético específico. En presencia de otras anomalías el pronóstico es pobre; los casos aislados suelen tener una evolución posnatal oligo o asintomática
Right aortic arch, which belongs to a group of rare malformations, is an uncommon finding (incidence of 0.1%) and few cases of prenatal forms have been described in the literature. Nevertheless, it is not unusual to find these anomalies as the cause of respiratory or digestive disease (refractory to treatment) in adult patients and even as severe vascular processes with high morbidity and mortality. Its variants may cause compressive symptoms and be associated with heart defects (up to 90%) and/or 22q11 microdeletion (up to 46%). The 3 vessels and trachea view is essential for the prenatal diagnosis of right aortic arch. Detection of this condition must be considered an indication for foetal echocardiography, to distinguish its variants, and/or specific chromosome/genetic testing. Isolated right aortic arch is usually asymptomatic, although the outcome of right aortic arch associated with other abnormalities is poor
Assuntos
Humanos , Feminino , Gravidez , Adulto , Diagnóstico Pré-Natal/métodos , Aorta Torácica/diagnóstico por imagem , Prognóstico , Complicações na Gravidez/diagnóstico por imagem , Transtornos Cromossômicos/diagnóstico por imagem , Cardiopatias Congênitas/diagnóstico por imagem , Desenvolvimento Fetal/efeitos da radiação , Ecocardiografia/métodosRESUMO
Contexto La fuerza de agarre es aquella que se ejerce con la mano para apretar o soltar cualquier objeto, y es considerada un indicador de salud. Autores han concluido que la fuerza de agarre varía dependiendo de la edad, el sexo, la estatura, el peso, hábitos, factores genéticos, entre otros. Objetivos Establecer un modelo matemático para la predicción de la fuerza de agarre de un grupo de trabajadores de oficina de la ciudad de Bogotá. Métodos Con el apoyo de un dinamómetro hidráulico marca Jamar se midió la fuerza de agarre de la mano dominante y no dominante a 293 trabajadores de oficina sanos de una entidad pública de la ciudad de Bogotá. Se siguió el protocolo de la Sociedad Americana de Terapistas de la Mano. La edad, el sexo, la talla, el peso y el IMC fueron registrados para cada participante. Se aplicó la regresión lineal Stepwise para establecer los modelos de predicción para la mano dominante y no dominante, con el software R-Studio. Resultados Los participantes fueron 185 hombres y 108 mujeres, todos con dominancia derecha. En general, los hombres registraron valores más altos de fuerza de agarre respecto a las mujeres. La fuerza de la mano dominante fue superior a la de la mano no dominante. Los modelos matemáticos resultantes permiten estimar la fuerza de agarre de la mano dominante y la mano no dominante con una predictibilidad del 64,52% y el 63,23% respectivamente. Conclusiones Los modelos predictivos propuestos consideraron las variables sexo, talla y peso para la estimación de la fuerza de agarre de la mano dominante, y las variables sexo, talla, peso y edad para la fuerza de agarre de la mano no dominante (AU)
Context Grip strength is the force that is exerted with the hand to squeeze or release any object and it is considered an indicator of health. Authors have concluded that grip strength varies depending on age, sex, height, weight, habits, genetic factors, among others.Objectives To establish a mathematical model for the prediction of grip strength in a group of office workers in the city of Bogotá. Methods The grip strength of the dominant and non-dominant hand was measured with a Jamar hydraulic dynamometer in 293 healthy office workers of a public entity in the city of Bogota. The protocol of the American Society of Hand Therapists was followed. Age, sex, height, weight, and BMI were recorded for each participant. Stepwise linear regression was applied to establish prediction models for the dominant and non-dominant hand, using R-studio software. Results The participants were 185 men and 108 women, all with right dominance. In general, men recorded higher values of grip strength than women. The strength of the dominant hand was higher than that of the non-dominant hand. The proposed mathematical models allow estimating the grip strength of the dominant hand and the non-dominant hand with a predictability of 64.52% and 63.23%, respectively. Conclusions The proposed predictive models included the variables sex, height, and weight for the estimation of the grip strength of the dominant hand, and the variables sex, height, weight and age for the grip strength of the non-dominant hand (AU)
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Humanos , Masculino , Feminino , Força da Mão , 16054 , Índice de Massa Corporal , Modelos Teóricos , ColômbiaRESUMO
Resumen El perito en balística de la Policía Nacional de Colombia, dentro de sus funciones, realiza el procedimiento de cotejo microscópico de vainillas y proyectiles disparados con armas de fuego, dentro del cual se encuentra el análisis de las características de clase, subclase e identidad a proyectiles cuya constitución no es la misma, como es el caso que se ha evidenciado, donde los cartuchos calibre 7.65 mm (para pistola) son utilizados en los revólveres calibre .32 largo; el objetivo del estudio es efectuar un análisis comparativo del micro-rayado de las estrías entre dichos proyectiles; se utilizó el método de observación científica, con enfoque cuantitativo de tipo comparativo, el cual permitió evidenciar que el nivel de uniprocedencias, al realizar cotejos entre estrías de proyectiles calibre 7.65 mm encamisado y .32 largo en plomo, es muy bajo; este resultado se logró documentar y consolidar en una tabla de datos, que al someterla al sistema estadístico obtuvo la cuantificación, disposición y análisis de las observaciones. Se llegó a la conclusión de que no es viable realizar cotejos microscópicos de proyectiles cuyas constituciones sean diferentes, como es el caso de las balas calibre 7.65 mm (encamisado) y .32 largo (plomo); de esta manera se orientan los procedimientos de los profesionales en balística.
Abstract The expert in ballistics of the National Police of Colombia, among its functions is in charge of performing performs the procedure of microscopic comparison of vanillas and projectiles shot with firearms, within which is the analysis of the class, subclass and identity features of projectiles with a constitution differing from each other like in the case having been demonstrated, where 7.65 mm caliber cartridges (for pistols) are used in .32 long caliber revolvers. The objective of the study is to carry out a comparative analysis between micro-scratching present in these projectiles; the scientific observation method was used with a quantitative approach allowing for demonstrating that the level of uni procedences or uni provenances at the time of making comparisons between out grooves of out comparing among to 7.65 mm jacketed he grooves said projectiles; the scientific observation was used, with a quantitative approach of a comparative type, which showed that the level of uni procedences or uni provenances at the time of carrying out en projectiles caliber 7.65 mm jacketed and .32 long lead, is very low; this result was documented and consolidated in a data table, which when subjected to the statistical system obtained the quantification, disposition and analysis of the observations. It was concluded that it is not feasible to perform microscopic comparisons of projectiles whose constitutions are different, as is the case with bullets caliber 7.65 mm (jacketed) and .32 long (lead); in this way the procedures of ballistics professionals are oriented.
Resumo O perito na balística da Policia Nacional da Colômbia, dentro das suas funções, faz o procedimento de comparação microscópica dos cartuchos e os projéteis disparados com armas de fogo, dentro da qual está a análise das características da classe, subclasse e da identidade aos projéteis cuja constituição não é a mesma, como é o caso que foi demonstrado, onde os cartuchos calibre 7.65 milímetros (para a pistola) são usados nos revólveres calibre .32 longo; o objetivo do estudo é realizar uma análise comparativa dos micro-aranhões das estrias entre estes projéteis; o método usado foi a observação científica, com aproximação quantitativa do tipo comparativo, que permitiu demonstrar que o nível das uni-procedências, quando fazer comparações entre estrias dos projéteis calibre 7.65 milímetros encamisado e .32 longo em chumbo, é muito baixo; este resultado logrou-se documentar e consolidar em uma tabela dos dados, que quando é submetida ao sistema estatístico obteve-se a quantificação, a disposição e a análise das observações. A conclusão foi que não é viável fazer comparações microscópicas dos projéteis cujas constituições são diferentes, como é o caso das balas calibre 7.65 milímetros (encamisado) e .32 longo (chumbo); assim os procedimentos dos profissionais na balística são orientados.
Assuntos
Balística Forense , Pesquisa , Polícia , ArmasRESUMO
INTRODUCTION: Antisocial behavior is a complex phenomenon with strong implications in neurology and psychiatry. In order to study the ontogenetic development of antisocial behavior, we must check for the existence of physiological mechanisms related to it, and to understand its environmentally-modulated functioning. AIM: To review the state-of-the-art of the development of antisocial behavior, and especially, of the interaction between environmental and genetic factors. DEVELOPMENT: Recent research has highlighted certain brain alterations linked to violent behavior, either at structural, or functional or biochemical levels. Genetic research has also made some advances in this field, discovering some genes--i.e. monoamineoxidase A (MAOA)--related to antisocial behavior. However, the importance of environmental factors in its development must not be left behind. Recent studies have shown that individuals carrying a low transcriptional activity allele of the MAOA gene, and that also suffered severe maltreatment are more prone to antisocial behavior. This interaction is biologically relevant, as there are underlying biological mechanisms that may be able to explain the ethiopathogeny of antisocial behavior. CONCLUSIONS: Although the works herein presented pioneered the field, they are limited by the fact that all the reviewed variables are associated to antisocial behavior, but they lack direct causal evidence of their effects on antisocial behavior. Undoubtedly, future research on psychobiological mechanisms and the understanding of their environmental modulation will help finding therapeutic targets and preventive strategies for antisocial behavior.
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Transtorno da Personalidade Antissocial , Meio Ambiente , Meio Social , Agressão/fisiologia , Animais , Transtorno da Personalidade Antissocial/etiologia , Transtorno da Personalidade Antissocial/genética , Transtorno da Personalidade Antissocial/fisiopatologia , Epigênese Genética , Predisposição Genética para Doença , Genótipo , Humanos , Relações Interpessoais , Sistema Límbico/fisiopatologia , Monoaminoxidase/genéticaRESUMO
This research aimed to recognize which of the basic psychological processes are presented in the scientific literature of the last 11 years dedicated to analysis of eating behavior of children aged 5 to 12 years. A systematic review in Science Direct, Scopus, Scielo and Redalyc was conducted, with a final sample of 41 publications. Substantial research was identified in memory and perception, while few studies were found in decision-making and attention. The techniques most used were exposure to food and interview, while direct observation was detected less frequently. Age, gender and nutritional status of the participants were analyzed in 68.3% of the articles. Research in decision making and direct observation of everyday life is suggested as a priority.
Esta investigación tuvo por objetivo reconocer cuáles de los procesos psicológicos básicos están presentes en publicaciones científicas de los últimos 11 años dedicadas al análisis del comportamiento alimentario de niños entre 5 y 12 años. Se realizó una revisión sistemática en Science Direct, Scopus, Scielo y Redalyc, con una muestra final de 41 artículos. Se identificó una mayor investigación en memoria y percepción, frente a una indagación escasa en la toma de decisiones y atención. Las técnicas utilizadas en mayor medida fueron la exposición al alimento y la entrevista, mientras que la observación directa se presentó en menor frecuencia. La edad, el género y el estado nutricional de los participantes fueron variables analizadas en 68,3% de los artículos. Se sugiere como prioridad la investigación en tomas de decisiones y la observación directa de la cotidianidad.
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Pesquisa , Criança , Psicologia da Criança , Nutrição da Criança , Comportamento Alimentar , Publicações Científicas e TécnicasRESUMO
The invasion of the erythrocyte by Plasmodium falciparum depends on the ability of the merozoite to move through the membrane invagination. This ability is probably mediated by actin dependent motors. Using affinity columns with G-actin and F-actin we isolated actin binding proteins from the parasite. By immunoblotting and immunoprecipitation with specific antibodies we identified the presence of tropomyosin, myosin, a-actinin, and two different actins in the eluate corresponding to F-actin binding proteins. In addition to these, a 240-260 kDa doublet, different in size from the erythrocyte spectrin, reacted with an antibody against human spectrin. All the above mentioned proteins were metabolically radiolabeled when the parasite was cultured with 35S-methionine. The presence of these proteins in P. falciparum is indicative of a complex cytoskeleton and supports the proposed role for an actin-myosin motor during invasion.
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Proteínas dos Microfilamentos/isolamento & purificação , Plasmodium falciparum/química , Proteínas de Protozoários/isolamento & purificação , Actinas/imunologia , Actinas/isolamento & purificação , Animais , Cromatografia de Afinidade/métodos , Eritrócitos/parasitologia , Immunoblotting , Proteínas dos Microfilamentos/imunologia , Miosinas/imunologia , Miosinas/isolamento & purificação , Testes de PrecipitinaRESUMO
BACKGROUND: The hyper-IgE syndrome is a primary immunodeficiency characterized by severe recurrent abscesses, pneumonia with pneumatocele formation, and elevated serum IgE. Eosinophilia, neutrophil chemotactic defects, and marked tissue damage are frequently present in this syndrome. OBJECTIVE: To study whether functional changes in cytokines, adhesion molecules, and neutrophils might help explain these clinical observations. METHODS: The following functions were analyzed in patients with the hyper-IgE syndrome and in controls: (1) production of granulocyte-macrophage-colony-stimulating factor by peripheral blood mononuclear cells by ELISA; (2) respiratory burst and reactive oxygen intermediates production by peripheral neutrophils using the luminol-enhanced chemiluminescense technique; and (3) expression of L-selectin on granulocytes and lymphocytes by flow cytometry. RESULTS: Patients with hyper-IgE syndrome had significantly increased production of granulocyte-macrophage-colony-stimulating factor by resting or stimulated mononuclear cells, increased generation of reactive oxygen intermediates by neutrophils treated with opsonized zymosan, and reduced L-selectin expression on quiescent and activated granulocytes and lymphocytes. CONCLUSIONS: Our results suggest that an important feature of the hyper-IgE syndrome is the increased production of granulocyte-macrophage-colony-stimulating factor, which may explain the reduced L-selectin expression, decreased chemotaxis, and increased oxygen radical production and tissue damage in this disease.
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Fator Estimulador de Colônias de Granulócitos e Macrófagos/metabolismo , Síndrome de Job/metabolismo , Selectina L/biossíntese , Explosão Respiratória/efeitos dos fármacos , Adolescente , Células Cultivadas , Criança , Pré-Escolar , Feminino , Granulócitos/metabolismo , Humanos , Medições Luminescentes , Luminol/farmacologia , Ativação Linfocitária/efeitos dos fármacos , Linfócitos/imunologia , Linfócitos/metabolismo , Masculino , Espécies Reativas de Oxigênio/metabolismo , Acetato de Tetradecanoilforbol/farmacologiaRESUMO
El aborto recurrente se presenta entre el 1 y 7% de las parejas. Su etiología comprende factores genéticos, inmunológicos, anatómicos, hormonales, metabólicos, trombofílicos e infecciosos. Con el objetivo de establecer la frecuencia de mosaicismos de baja proporción en cromosomas sexuales, en una población de parejas con antecedente de aborto recurrente, se hizo un estudio citogenético prospectivo caso- control en 20 parejas, remitidas al Laboratorio de Biogenética del Centro Colombiano de Fertilidad y Esterilidad (CECOLFES). Se hizo valoración clínico-patológica, estudios anatómicos, hormonales, infecciosos, andrológicos y genéticos. Como técnicas citogenéticas se usaron el método convencional de bandeo GTG para el estudio de anomalías cromosómicas numéricas y estructurales y el método molecular de Hibridación in situ con Fluorescencia (FISH) para confirmar los mosaicismos en cromosomas sexuales. De acuerdo con los hallazgos paraclínicos de las parejas estudiadas, el diagnóstico mostró factores inmunológicos (75%), anatómicos (30%), hormonales (25%), masculinos (25%), infecciosos (25%), genéticos (15%) e idiopático (10%). Como resultados del estudio citogenético de las parejas, hubo un 10% de mosaicismos de baja proporción en cromosomas sexuales en dos mujeres abortadoras cuyo diagnóstico final incluyó factor genético e infeccioso y factor genético e inmune respectivamente. Sólo se es- tudió citogenéticamente el 10% de los productos de aborto de todas las parejas. Se concluye la evidencia multifactorial de la patogénesis del aborto recurrente, el subdiagnóstico del factor genético en las parejas remitidas y la necesidad de focalizar investigaciones futuras en la interpretación citogenética y asociación clínico-patológica de los mosaicismo de baja proporción en cromosomas sexuales con el aborto recurrente.
Recurrent miscarriage occurs in around 1 to 7 percent of couples. The etiology involves genetic, immunologic, anatomic, hormonal, metabolic, thrombophilic and infectious factors. With the aim of establishing the frequency of low-level mosaicism in the X-chromosome, in a population of couples with prior recurrent miscarriages, a prospective case-control cytogenetic study took place on 20 couples, at the biogenetic laboratory in CECOLFES (Colombian Center of Fertility and Sterility). Clinical pathologic evaluation, anatomic, hormonal, infectious, andrologic and genetic studies were performed. As a conventional method in cytogenetic techniques, banding GTG was used for the study of structural and numeric chromosomal abnormalities whereas the molecular method of Fluorescence In Situ Hybridization (FISH) was used to confirm the mosaicism in sexual chromosomes. According to paraclinic results from the participating couples, diagnosis showed immunologic (75%), anatomic (30%), hormonal (25%), male (25%), infectious (25%), genetic (15%) and idiophatic factors (10%). Results from the cytogenetic analysis, were 10% of low-level mosaicism in the X-chromosome in two women whose final diagnosis included genetic and infectious factors for one and genetic and immunologic factors for the other. Only 10 % of the total miscarriages from the couples were evaluated. Conclusions include aspects such as multifactorial evidence of pathogenesis in recurrent miscarriage, the sub-diagnosis of genetic factors and the need to focus future investigations on cytogenetic interpretation and the clinicalpathological association between low-level mosaicism in the X-cromosome and recurrent miscarriage.
Assuntos
Humanos , Aborto Habitual , Cromossomo X , Aberrações Cromossômicas , Citogenética , Diagnóstico , MosaicismoRESUMO
Resumen. Introducción. El comportamiento antisocial es un fenómeno amplio y complejo con profundas implicaciones en neurología y psiquiatría. Para poder enfrentarse a una tarea tan compleja como estudiar el desarrollo ontogenético del comportamiento antisocial hace falta comprobar la existencia de mecanismos fisiológicos relacionados con él y entender cómo los factores ambientales pueden modular su funcionamiento. Objetivo. Revisar los conocimientos que tenemos acerca del desarrollo del comportamiento antisocial, y de la interacción entre factores ambientales y genéticos. Desarrollo. Investigaciones recientes han puesto de relieve alteraciones cerebrales que están asociadas al comportamiento violento, tanto desde el punto de vista estructural como funcional o bioquímico. La investigación genética también ha realizado avances en este terreno, como la detección de algunos genes como el de la monoaminooxidasa A (MAOA) relacionados con el comportamiento antisocial. Sin embargo, no debemos olvidar los factores ambientales en el desarrollo de éste. Estudios recientes indican que aquellos individuos portadores de una versión poco funcional del gen MAOA y que reciben un grave maltrato son más proclives al comportamiento antisocial. La significación biológica de esta interacción es relevante, ya que ciertos mecanismos biológicos subyacentes pueden explicar la etiopatogenia del comportamiento antisocial, aunque sea a un nivel muy elemental. Conclusiones. Los estudios mostrados, a pesar de ser pioneros, tienen una gran limitación, y es que a pesar de las evidencias de que todas las variables presentadas están asociadas al comportamiento antisocial, no hay una evidencia causal directa sobre su efecto en éste último. Sin duda, el estudio futuro de los mecanismos psicobiológicos y la comprensión de su modulación ambiental ofrecerán dianas terapéuticas y de prevención para el abordaje del comportamiento antisocial en todas sus vertientes (AU)
Summary. Introduction. Antisocial behavior is a complex phenomenon with strong implications in neurology and psychiatry. In order to study the ontogenetic development of antisocial behavior, we must check for the existence of physiological mechanisms related to it, and to understand its environmentally-modulated functioning. Aim. To review the state-of-the-art of the development of antisocial behavior, and especially, of the interaction between environmental and genetic factors. Development. Recent research has highlighted certain brain alterations linked to violent behavior, either at structural, or functional or biochemical levels. Genetic research has also made some advances in this field, discovering some genes i.e. monoamineoxidase A (MAOA) related to antisocial behavior. However, the importance of environmental factors in its development must not be left behind. Recent studies have shown that individuals carrying a low transcriptional activity allele of the MAOA gene, and that also suffered severe maltreatment are more prone to antisocial behavior. This interaction is biologically relevant, as there are underlying biological mechanisms that may be able to explain the ethiopathogeny of antisocial behavior. Conclusions. Although the works herein presented pioneered the field, they are limited by the fact that all the reviewed variables are associated to antisocial behavior, but they lack direct causal evidence of their effects on antisocial behavior. Undoubtedly, future research on psychobiological mechanisms and the understanding of their environmental modulation will help finding therapeutic targets and preventive strategies for antisocial behavior (AU)
Assuntos
Humanos , Transtorno da Personalidade Antissocial/psicologia , Transtornos do Comportamento Social/psicologia , Transtornos Psicofisiológicos/diagnóstico , Agressão/psicologia , Predisposição Genética para DoençaRESUMO
La posibilidad de contar con una herramienta como es la vertebroplastia, para el tratamiento de las fracturas vertebrales por osteoporosis, en personas en quienes el tratamiento convencional no ha generado los resultados esperados, constituye una alternativa que, en las manos adecuadas y con la técnica indicada, se relaciona con mejoría del dolor. En la experiencia de los autores, en los procedimientos realizados hasta la fecha, se obtuvo mejoría significativa del dolor desde las dos primeras horas posteriores al procedimiento en el 70 por ciento de los pacientes