RESUMO
BACKGROUND: Neuroophthalmological phenotypical particularities of SCA3. PHENOMENOLOGY: Eyelid opening apraxia and asymmetrical blepharospasm. EDUCATIONAL VALUE: To illustrate the phenomenology for purposes of education.
Assuntos
Apraxias , Blefarospasmo , Doença de Machado-Joseph , Apraxias/etiologia , Blefarospasmo/complicações , Pálpebras , Humanos , Doença de Machado-Joseph/complicaçõesRESUMO
Objetivo: Discorrer e analisar o preenchimento dos impressos de balanço hídrico de pacientes internados em uma Unidade de Terapia Intensiva pela equipe de enfermagem. Método: Estudo transversal, realizado de fevereiro a dezembro de 2016. Amostra aleatória simples, composta de 220 impressos de balanço hídrico, aprovado no Comitê de Ética em Pesquisa, Protocolo nº. 2.494.058. Análise por meio do SPSS Statistics 22.0 (IBM), utilizando-se estatística descritiva, cálculo de distribuição de frequência, medidas de tendência central e de dispersão. Resultados: 92,7% dos balanços hídricos foram concluídos. Deste total, 54,5% apresentaram erros de cálculos; 37,30%, uso de caneta imprópria; 53,20%, letra ilegível; 84,1%, rasuras; 78,6% erros de registro de dados; 50,50%, anotações inadequadas em colunas. Há 40,7% de chances de um balanço hídrico correto se não houver falhas nos registros e o mesmo for concluído. Conclusão: Os resultados evidenciam a necessidade de capacitação da equipe de enfermagem e de revisão do protocolo assistencial.(AU)
Objective: To discuss and analyze the filling out of fluid balance forms for patients admitted to an Intensive Care Unit by the nursing team. Method: A cross-sectional study, conducted from February to December 2016. A simple random sample, composed of 220 water balance forms, approved by the Research Ethics Committee, Protocol No. 2.494.058. Analysis using SPSS Statistics 22.0 (IBM), using descriptive statistics, calculation of frequency distribution, measures of central tendency and dispersion. Results: A total of 92.7% of the hydric balances were completed. Of this total, 54.5% presented calculation errors; 37.30%, use of improper pen; 53.20%, illegible handwriting; 84.1%, erasures; 78.6% data registration errors; 50.50%, inadequate annotations in columns. There is a 40.7% chance of a correct water balance if there are no flaws in the records and it is completed. Conclusion: The results show the need for training of the nursing team and revision of the care protocol(AU)
Objetivo: Describir y analizar el balance hídrico realizado por el personal de enfermería en una Unidad de Cuidados Intensivos. Método: Estudio transversal, celebrada de febrero a diciembre de 2016. Muestra aleatoria simple, compuesta por 220 balances hídricos, aprobada por el Comité de Ética en Investigación, Protocolo nº. 2.494.058. Análisis a través del SPSS Statistics 22.0 (IBM), utilizando estadística descriptiva, cálculo de distribución de frecuencias, medidas de tendencia central y dispersión. Resultados: 92,7% de los balances hídricos. De este total, el 54,5% tuvo errores de cálculo; 37,30%, utilizando un bolígrafo inadecuado; 53,20%, caligrafía ilegible; 84,1%, tachaduras; 78,6% de errores de entrada de datos; 50,50%, anotaciones de columna inapropiadas. Hay un 40,7% de probabilidad de un correcto balance hídrico si no hay errores en los registros y se completa el mismo. Conclusión: Los resultados muestran la necesidad de capacitar al personal de enfermería y revisar el protocolo de atención.(AU)
Assuntos
Humanos , Masculino , Feminino , Adolescente , Adulto , Pessoa de Meia-Idade , Adulto Jovem , Equilíbrio Hidroeletrolítico , Registros de Enfermagem/estatística & dados numéricos , Unidades de Terapia Intensiva , Estudos Transversais , Pesquisa sobre Serviços de SaúdeRESUMO
Objetivo: Analisar a percepção sobre os atributos da Atenção Primária à Saúde em função do perfil demográfico, socioeconômico e de acompanhamento de saúde de pacientes clínicos de um Hospital Universitário. Método: Estudo seccional com 197 adultos internados de março a junho. Os dados foram coletados usando um questionário multidimensional e o Primary Care Assessment Tool. Foram calculadas as prevalências e os respectivos Intervalos de Confiança. Resultados: A presença de cuidados prestados pela atenção primária foi identificada em 49,7% (IC95%: 42.7/56.7) da população estudada. A presença e a orientação da atenção primária apresentaram relações estatisticamente significantes com as formas de acompanhamento de saúde dos usuários. Conclusão: O estudo aponta para um baixo grau de orientação da atenção primária percebido pelos participantes, sugerindo a pouca articulação entre os diferentes níveis de atenção da rede assistencial.(AU)
Objective: To analyze the perception about the attributes of Primary Health Care according to the demographic, socioeconomic and health monitoring profile of clinical patients of a University Hospital. Method: Sectional study with 197 hospitalized adults from March to June. Data were collected using a multidimensional questionnaire and the Primary Care Assessment Tool. The prevalence and the Confidence Intervals were calculated. Results: The presence of care provided by primary care was identified in 49.7% (95% CI: 42.7 / 56.7) of the study population. The presence and orientation of primary care presented statistically significant relationships with the forms of health follow-up of the users. Conclusion: The study points to a low degree of orientation of the primary care perceived by the participants, suggesting the little articulation between the different levels of attention of the care network.(AU)
Objetivo: Analizar la percepción sobre los atributos de la Atención Primaria de Salud según el perfil de seguimiento demográfico, socioeconómico y de salud de los pacientes clínicos de un Hospital Universitario. Método: Estudio seccional con 197 adultos hospitalizados de marzo a junio. Los datos se recopilaron mediante un cuestionario multidimensional y la Herramienta de evaluación de atención primaria. Se calculó la prevalencia y los intervalos de confianza. Resultados: La presencia de la atención brindada por la atención primaria se identificó en el 49,7% (IC 95%: 42,7 / 56,7) de la población del estudio. La presencia y orientación de la atención primaria presentó relaciones estadísticamente significativas con las formas de seguimiento de la salud de los usuarios. Conclusión: El estudio apunta a un bajo grado de orientación de la atención primaria percibida por los participantes, lo que sugiere la poca articulación entre los diferentes niveles de atención de la red de atención.(AU)
Assuntos
Humanos , Atenção Primária à Saúde , Assistência Integral à Saúde , Hospitais Universitários , Fatores SocioeconômicosRESUMO
OBJECTIVE: To analyze the relations between the presence and orientation of the Primary Health Care and hospitalizations due to sensitive conditions to primary care in a university hospital. METHOD: This is a sectional study with a sample of 197 subjects hospitalized from March to June 2016 in the medical clinic of a university hospital in Juiz de Fora. The assessment, conducted through interviews, used the Primary Health Care Assessment Tool, reduced version for adults, and the Brazilian list of sensitive conditions, edited by the Ministry of Health. RESULTS: The regular frequency of the Primary Care was associated with hospitalizations (OR:2,06), especially related to the low performance of the access attributes (OR:5,3) and the comprehensives (OR:4,7). CONCLUSION: The low orientation of the Primary Care attributes suggests that only the coverage at this level may not be sufficient to reduce these hospitalizations, but the way it is organized and effective at the community level.
Assuntos
Hospitalização/estatística & dados numéricos , Hospitais Universitários/estatística & dados numéricos , Atenção Primária à Saúde/estatística & dados numéricos , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Brasil/epidemiologia , Estudos Transversais , Grupos Diagnósticos Relacionados , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Modelos Teóricos , Programas Nacionais de Saúde , Admissão do Paciente/estatística & dados numéricos , Atenção Primária à Saúde/normas , Fatores Socioeconômicos , Inquéritos e Questionários , Adulto JovemRESUMO
Defects in iron-sulphur [Fe-S] cluster biogenesis are increasingly recognized as causing neurological disease. Mutations in a number of genes that encode proteins involved in mitochondrial [Fe-S] protein assembly lead to complex neurological phenotypes. One class of proteins essential in the early cluster assembly are ferredoxins. FDX2 is ubiquitously expressed and is essential in the de novo formation of [2Fe-2S] clusters in humans. We describe and genetically define a novel complex neurological syndrome identified in two Brazilian families, with a novel homozygous mutation in FDX2. Patients were clinically evaluated, underwent MRI, nerve conduction studies, EMG and muscle biopsy. To define the genetic aetiology, a combination of homozygosity mapping and whole exome sequencing was performed. We identified six patients from two apparently unrelated families with autosomal recessive inheritance of a complex neurological phenotype involving optic atrophy and nystagmus developing by age 3, followed by myopathy and recurrent episodes of cramps, myalgia and muscle weakness in the first or second decade of life. Sensory-motor axonal neuropathy led to progressive distal weakness. MRI disclosed a reversible or partially reversible leukoencephalopathy. Muscle biopsy demonstrated an unusual pattern of regional succinate dehydrogenase and cytochrome c oxidase deficiency with iron accumulation. The phenotype was mapped in both families to the same homozygous missense mutation in FDX2 (c.431C > T, p.P144L). The deleterious effect of the mutation was validated by real-time reverse transcription polymerase chain reaction and western blot analysis, which demonstrated normal expression of FDX2 mRNA but severely reduced expression of FDX2 protein in muscle tissue. This study describes a novel complex neurological phenotype with unusual MRI and muscle biopsy features, conclusively mapped to a mutation in FDX2, which encodes a ubiquitously expressed mitochondrial ferredoxin essential for early [Fe-S] cluster biogenesis.
Assuntos
Ferredoxinas/genética , Ferredoxinas/fisiologia , Adolescente , Adulto , Brasil , Criança , Complexo IV da Cadeia de Transporte de Elétrons/metabolismo , Feminino , Homozigoto , Humanos , Ferro/metabolismo , Proteínas Ferro-Enxofre/genética , Proteínas Ferro-Enxofre/fisiologia , Leucoencefalopatias/metabolismo , Masculino , Mitocôndrias/metabolismo , Proteínas Mitocondriais/genética , Doenças Musculares/genética , Mialgia/genética , Atrofia Óptica/genética , Linhagem , Fenótipo , Succinato Desidrogenase/metabolismo , Síndrome , Sequenciamento do ExomaRESUMO
BACKGROUND: Paracoccidioidomycosis (PCM) is the most prevalent endemic systemic fungal infection in Latin America. In Brazil, it stands out as the eighth-highest cause of mortality among chronic or recurrent infections and has the highest mortality rate among systemic mycoses. Oral mucosal lesions may be the first visible physical manifestation of the disease. This study traced the epidemiological and clinical profiles of patients with oral lesions treated at the University Hospital Cassiano Antonio Moraes, Federal University of Espirito Santo. METHODS: A retrospective cross-sectional analysis of patient medical records was performed. RESULTS: Among the 161 patients identified with a confirmed diagnosis of PCM, 97 (60.24%) presented with oral lesions. The male:female ratio was 15:1, the mean age was 50.5 years, and the chronic form of paracoccidioidomycosis was predominant. Most of the patients had smoking habits and were rural workers. The most common oral lesions present in various anatomical sites were mulberry-like ulcers, more frequently observed in the gingiva, with regression within one to three months. Patients completed the treatment in one to two years (32.99%), and 47.42% of cases discontinued treatment. CONCLUSIONS: In addition to the characteristics of the oral lesions, information from the clinical profiles of patients with oral PCM is a central tool for dentists for early diagnosis. Earlier diagnosis may result in fewer consequences, especially respiratory ones that may cause an inability to work and poor quality of life.
Assuntos
Antifúngicos/uso terapêutico , Boca/microbiologia , Paracoccidioidomicose/tratamento farmacológico , Paracoccidioidomicose/epidemiologia , Adulto , Idoso , Brasil/epidemiologia , Doença Crônica/epidemiologia , Estudos Transversais , Feminino , Gengiva/microbiologia , Gengiva/patologia , Humanos , Masculino , Prontuários Médicos , Pessoa de Meia-Idade , Boca/patologia , Paracoccidioidomicose/patologia , Prevalência , Qualidade de Vida , Estudos Retrospectivos , População Rural , Fumar/efeitos adversos , Úlcera/microbiologia , Úlcera/patologiaRESUMO
Resumo OBJETIVO Analisar as relações entre a presença e a orientação da Atenção Primária à Saúde e as internações por condições sensíveis à atenção primária em um hospital universitário. MÉTODO Estudo seccional com amostra de 197 sujeitos internados no período de março a junho de 2016 na clínica médica de um hospital universitário de Juiz de Fora. A aferição, realizada por meio de entrevistas, utilizou o Primary Health Care Assessment Tool, versão reduzida para adultos, e a lista brasileira de condições sensíveis, editada pelo Ministério da Saúde. RESULTADOS A frequência regular à Atenção Primária esteve associada às internações (RP:2,06), especialmente frente ao baixo desempenho dos atributos de acesso (RP:5,3) e da integralidade (RP:4,7). CONCLUSÃO A baixa orientação dos atributos da Atenção Primária sugere que somente a cobertura deste nível talvez não seja suficiente para reduzir estas internações, mas a forma que ela se organiza e efetiva no nível comunitário.
Resumen OBJETIVO Analizar las relaciones entre la presencia y la orientación de la Atención Primaria de la Salud y las internaciones por condiciones sensibles a la atención primaria en un hospital universitario. MÉTODO Estudio seccional con una muestra de 197 pacientes hospitalizados en el período de marzo a junio 2016 en el clínica médica de un hospital universitario de Juiz de Fora. Los evaluación, realizada a través de entrevistas, utilizada lo Primary Health Care Assessment Tool, versión reducida para adultos, y la lista brasileña de condiciones sensibles, editada por el Ministerio de la Salud. RESULTADOS La frecuencia regular de la Atención Primaria se asoció con hospitalizaciones (RP:2,06), especialmente frente al bajo desempeño de los atributos de acceso (RP:5,3) y de integralidad (RP: 4,7). CONCLUSIÓN La orientación baja de los atributos de la Atención Primaria sugieren que solamente la cobertura de este nivel tal vez no sea suficiente para reducir estas internaciones, sin embargo, la forma que ella se organiza y se efectiva a nivel comunitario.
Abstract OBJECTIVE To analyze the relations between the presence and orientation of the Primary Health Care and hospitalizations due to sensitive conditions to primary care in a university hospital. METHOD This is a sectional study with a sample of 197 subjects hospitalized from March to June 2016 in the medical clinic of a university hospital in Juiz de Fora. The assessment, conducted through interviews, used the Primary Health Care Assessment Tool, reduced version for adults, and the Brazilian list of sensitive conditions, edited by the Ministry of Health. RESULTS The regular frequency of the Primary Care was associated with hospitalizations (OR:2,06), especially related to the low performance of the access attributes (OR:5,3) and the comprehensives (OR:4,7). CONCLUSION The low orientation of the Primary Care attributes suggests that only the coverage at this level may not be sufficient to reduce these hospitalizations, but the way it is organized and effective at the community level.
Assuntos
Humanos , Masculino , Feminino , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Adulto Jovem , Atenção Primária à Saúde/estatística & dados numéricos , Hospitalização/estatística & dados numéricos , Hospitais Universitários/estatística & dados numéricos , Admissão do Paciente/estatística & dados numéricos , Atenção Primária à Saúde/normas , Fatores Socioeconômicos , Brasil/epidemiologia , Estudos Transversais , Inquéritos e Questionários , Grupos Diagnósticos Relacionados , Pessoa de Meia-Idade , Modelos Teóricos , Programas Nacionais de SaúdeRESUMO
OBJECTIVE:: To estimate the trends of self-rated health in relation to overweight in the adult population of the capitals of the Brazilian Midwest region and the Federal District. METHODS:: Cross-sectional study with a population aged 20 to 59 years, using data from the Telephone-based Surveillance of Risk and Protective Factors for Chronic Diseases (VIGITEL), performed between 2008 and 2014. The estimates using the complex sampling design were made using simple linear regression, trend graphs and Boxplot. RESULTS:: The categories "poor" and "very poor" didn't increase in the analyzed period. There was an average increase of 0.5 percentage point per year in the categories "fair" and "good" and an average decrease of 1.0 percentage point in the category "very good". The trend analysis of mean body mass index found there was a progressive growth in all cities. The worst health perceptions showed higher values of body mass index in both sexes. We observed the existence of obese people assessing their health positively. CONCLUSION:: Self-rated health remained relatively constant whereas the body mass index continued to grow between 2008 and 2014. The self-rated health of individuals with high body mass index (>30 kg/m2) does not seem to be directly related to their weight. Therefore, it is important to analyze the association of these two variables controlling for morbidity, health behaviors (smoking and alcohol consumption, physical activity and diet), and sociodemographic factors.
Assuntos
Autoavaliação Diagnóstica , Sobrepeso , Adulto , Brasil , Estudos Transversais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Sobrepeso/diagnóstico , Saúde da População Urbana , Adulto JovemRESUMO
Objetivo: descrever o perfil das internações e a prevalência de condições sensíveis à atenção primária no setor de clínica médica. Métodos: estudo exploratório transversal com 197 sujeitos internados há mais de 24 horas. A coleta de dados ocorreu com entrevistas e coleta de prontuário de pacientes hospitalizados no setor. A análise foi estatística descritiva. Resultados: observou-se predomínio de internações de adultos, do sexo feminino, negros, com estudo entre quatro e 12 anos, de classe C e residentes da zona urbana. A prevalência de internações por condições sensíveis foi de 20,8% (Intervalo de Confiança de 95,0%:15,7/27,1). As doenças do aparelho respiratório, pele e tecido celular subcutâneo apresentaram prevalências superiores à estimativa geral de internações por condições sensíveis à Atenção Primária. Conclusão: as internações ocorreram, predominantemente, em adultos de classe média e com até 12 anos de estudo. As internações por condições sensíveis foram elevadas, sobretudo por doenças do aparelho circulatório, respiratório, digestivo e geniturinário. (AU)
Assuntos
Assistência Integral à Saúde , Serviços de Saúde , Hospitais Universitários , Indicadores de ServiçosRESUMO
Amyotrophic Lateral Sclerosis (ALS) is one of the most common adult-onset motor neuron disease causing a progressive, rapid and irreversible degeneration of motor neurons in the cortex, brain stem and spinal cord. No effective treatment is available and cell therapy clinical trials are currently being tested in ALS affected patients. It is well known that in ALS patients, approximately 50% of pericytes from the spinal cord barrier are lost. In the central nervous system, pericytes act in the formation and maintenance of the blood-brain barrier, a natural defense that slows the progression of symptoms in neurodegenerative diseases. Here we evaluated, for the first time, the therapeutic effect of human pericytes in vivo in SOD1 mice and in vitro in motor neurons and other neuronal cells derived from one ALS patient. Pericytes and mesenchymal stromal cells (MSCs) were derived from the same adipose tissue sample and were administered to SOD1 mice intraperitoneally. The effect of the two treatments was compared. Treatment with pericytes extended significantly animals survival in SOD1 males, but not in females that usually have a milder phenotype with higher survival rates. No significant differences were observed in the survival of mice treated with MSCs. Gene expression analysis in brain and spinal cord of end-stage animals showed that treatment with pericytes can stimulate the host antioxidant system. Additionally, pericytes induced the expression of SOD1 and CAT in motor neurons and other neuronal cells derived from one ALS patient carrying a mutation in FUS. Overall, treatment with pericytes was more effective than treatment with MSCs. Our results encourage further investigations and suggest that pericytes may be a good option for ALS treatment in the future. Graphical Abstract á .
Assuntos
Esclerose Lateral Amiotrófica/terapia , Células-Tronco Pluripotentes Induzidas/patologia , Neurônios Motores/patologia , Pericitos/transplante , Superóxido Dismutase-1/genética , Tecido Adiposo/citologia , Tecido Adiposo/metabolismo , Esclerose Lateral Amiotrófica/genética , Esclerose Lateral Amiotrófica/mortalidade , Esclerose Lateral Amiotrófica/patologia , Animais , Barreira Hematoencefálica/metabolismo , Barreira Hematoencefálica/patologia , Tronco Encefálico/metabolismo , Tronco Encefálico/patologia , Catalase/genética , Catalase/metabolismo , Córtex Cerebral/metabolismo , Córtex Cerebral/patologia , Modelos Animais de Doenças , Feminino , Expressão Gênica , Humanos , Células-Tronco Pluripotentes Induzidas/metabolismo , Masculino , Células-Tronco Mesenquimais/citologia , Células-Tronco Mesenquimais/metabolismo , Camundongos , Camundongos Transgênicos , Neurônios Motores/metabolismo , Mutação , Pericitos/citologia , Pericitos/metabolismo , Proteína FUS de Ligação a RNA/genética , Proteína FUS de Ligação a RNA/metabolismo , Medula Espinal/metabolismo , Medula Espinal/patologia , Superóxido Dismutase-1/deficiência , Análise de SobrevidaRESUMO
RESUMO: Objetivo: Estimar as tendências da autoavaliação de saúde em relação ao excesso de peso na população adulta residente nas capitais da região Centro-Oeste e no Distrito Federal. Método: Estudo transversal com população entre 20 e 59 anos, utilizando dados de inquéritos telefônicos de base populacional do Sistema de Vigilância de Fatores de Risco e Proteção para Doenças Crônicas (VIGITEL), realizados entre os anos de 2008 e 2014. As estimativas foram feitas considerando o planejamento amostral complexo, utilizando-se regressão linear simples, gráficos de tendência e Boxplot. Resultados: As categorias "ruim" e "muito ruim" não tiveram alteração no período analisado. Observou-se aumento médio de 0,5 ponto percentual para as categorias "regular" e "bom", e diminuição média de 1,0 ponto percentual na categoria "muito bom". Na análise de tendência das médias do índice de massa corporal, verificou-se aumento progressivo em todas as cidades. Nas piores percepções de saúde, constatou-se valores mais elevados do índice de massa corporal em ambos os sexos. Observou-se a existência de pessoas obesas autoavaliando sua saúde de maneira positiva. Conclusão: A autoavaliação de saúde se manteve relativamente constante enquanto o índice de massa corporal seguiu tendência crescente entre 2008 e 2014 nas capitais do Centro-Oeste e no Distrito Federal. A autoavaliação de saúde dos indivíduos com índice de massa corporal elevado (> 30 kg/m2) parece não ter relação direta com seu peso. É importante analisar a associação dessas duas variáveis, controlando-as por morbidades, comportamentos de saúde (etilismo e tabagismo, atividade física e alimentação) e fatores sociodemográficos.
ABSTRACT: Objective: To estimate the trends of self-rated health in relation to overweight in the adult population of the capitals of the Brazilian Midwest region and the Federal District. Methods: Cross-sectional study with a population aged 20 to 59 years, using data from the Telephone-based Surveillance of Risk and Protective Factors for Chronic Diseases (VIGITEL), performed between 2008 and 2014. The estimates using the complex sampling design were made using simple linear regression, trend graphs and Boxplot. Results: The categories "poor" and "very poor" didn't increase in the analyzed period. There was an average increase of 0.5 percentage point per year in the categories "fair" and "good" and an average decrease of 1.0 percentage point in the category "very good". The trend analysis of mean body mass index found there was a progressive growth in all cities. The worst health perceptions showed higher values of body mass index in both sexes. We observed the existence of obese people assessing their health positively. Conclusion: Self-rated health remained relatively constant whereas the body mass index continued to grow between 2008 and 2014. The self-rated health of individuals with high body mass index (>30 kg/m2) does not seem to be directly related to their weight. Therefore, it is important to analyze the association of these two variables controlling for morbidity, health behaviors (smoking and alcohol consumption, physical activity and diet), and sociodemographic factors.
Assuntos
Humanos , Adulto Jovem , Sobrepeso/diagnóstico , Autoavaliação Diagnóstica , Brasil , Saúde da População Urbana , Estudos Transversais , Pessoa de Meia-IdadeRESUMO
Histoplasmosis is a systemic mycosis that is considered an important public health problem. In this work, we performed a descriptive, observational, cross-sectional and retrospective study with a secondary data analysis of medical records from 2000 to 2012 at a tertiary hospital. The study sample consisted of 275 patients with laboratory-confirmed Disseminated Histoplasmosis (DH)/AIDS. The results showed that the prevalence of DH associated with AIDS was 4.4%. The majority of patients were young adult men with fever in 84.2%, cough in 63.4%, weight loss in 63.1%, diarrhoea in 44.8% and skin manifestations in 27.6% of patients. In the overall cohort, the CD4 counts were low, but not significantly different in survivors and non-survivors. Higher levels of urea and lower levels of haemoglobin and platelets were observed in non-survivor patients (<.05). The global lethality was 71.3% (196/275). The results with high prevalence and lethality highlight the need to adopt measures to facilitate early diagnosis, proper treatment and improved prognosis.
Assuntos
Síndrome da Imunodeficiência Adquirida/complicações , Histoplasmose/epidemiologia , Infecções Oportunistas/epidemiologia , Síndrome da Imunodeficiência Adquirida/epidemiologia , Síndrome da Imunodeficiência Adquirida/mortalidade , Adolescente , Adulto , Idoso , Antifúngicos/uso terapêutico , Brasil/epidemiologia , Contagem de Linfócito CD4 , Criança , Estudos de Coortes , Estudos Transversais , Feminino , Hemoglobinas/análise , Histoplasmose/tratamento farmacológico , Histoplasmose/mortalidade , Humanos , Masculino , Prontuários Médicos , Pessoa de Meia-Idade , Infecções Oportunistas/tratamento farmacológico , Infecções Oportunistas/mortalidade , Contagem de Plaquetas , Prevalência , Estudos Retrospectivos , Centros de Atenção Terciária/estatística & dados numéricos , Ureia/análise , Adulto JovemRESUMO
OBJECTIVES: Quilombo remnants are relics of communities founded by runaway or abandoned African slaves, but often with subsequent extensive and complex admixture patterns with European and Native Americans. We combine a genetic study of Y-chromosome markers with anthropological surveys in order to obtain a portrait of quilombo structure and history in the region that has the largest number of quilombo remnants in the state of São Paulo. METHODS: Samples from 289 individuals from quilombo remnants were genotyped using a set of 17 microsatellites on the Y chromosome (AmpFlSTR-Yfiler). A subset of 82 samples was also genotyped using SNPs array (Axiom Human Origins-Affymetrix). We estimated haplotype and haplogroup frequencies, haplotype diversity and sharing, and pairwise genetic distances through FST and RST indexes. RESULTS: We identified 95 Y chromosome haplotypes, classified into 15 haplogroups. About 63% are European, 32% are African, and 6% Native American. The most common were: R1b (European, 34.2%), E1b1a (African, 32.3%), J1 (European, 6.9%), and Q (Native American, 6.2%). Genetic differentiation among communities was low (FST = 0.0171; RST = 0.0161), and haplotype sharing was extensive. Genetic, genealogical and oral surveys allowed us to detect five main founder haplotypes, which explained a total of 27.7% of the Y chromosome lineages. CONCLUSIONS: Our results showed a high European patrilineal genetic contribution among the founders of quilombos, high amounts of gene flow, and a recent common origin of these populations. Common haplotypes and genealogical data indicate the origin of quilombos from a few male individuals. Our study reinforces the importance of a dual approach, involving the analysis of both anthropological and genetic data.
Assuntos
Cromossomos Humanos Y/genética , Haplótipos , Herança Paterna , Polimorfismo de Nucleotídeo Único , População Negra/genética , Brasil , Humanos , Repetições de Microssatélites , População RuralRESUMO
Amphotericin B deoxycholate is the main option for intravenous (i.v.) treatment of severe paracoccidioidomycosis (PCM). This is the first report of amphotericin B lipid complex (ABLC) in the treatment of PCM. Among 28 patients, cure was achieved in all patients (100%) using ABLC. Mean and median daily doses of ABLC were 3.39 mg/kg/day and 3.35 mg/kg/day, respectively. ABLC may be a choice in the treatment of severe forms of PCM or when i.v. options are required.
Assuntos
Anfotericina B/administração & dosagem , Antifúngicos/administração & dosagem , Paracoccidioidomicose/tratamento farmacológico , Adolescente , Adulto , Idoso , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Resultado do Tratamento , Adulto JovemRESUMO
Cryptococcus neoformans is an encapsulated yeast found in the environment, responsible for causing of meningoencephalitis in patients with a compromised immune system. In Brazil, cryptococcosis is the second cause of death among systemic mycoses. The limited efficacy of the available antifungal drugs used in its treatment has encouraged the search for therapeutic alternatives, such as medicinal plants. Thymus vulgaris, popularly known as thyme, is an aromatic plant whose essential oil (EO) possesses antifungal properties. The aim of this study was to assess the action of T. vulgaris EO on C. neoformans clinical isolates. This oil was analyzed by gas chromatography/mass spectrometry (GC/MS), which showed that its main components were thymol, ρ-cymene and linalool. Microdilution broth tests showed that this EO was effective against fungal isolates, with minimum inhibitory concentrations (MICs) ranging from 32 to 128 µg/mL. In vitro interaction tests between this oil and fluconazole (FCZ) showed no potentiation of the antifungal action of this drug. Its effect on mitochondrial metabolism of fungal cells was also evaluated and results demonstrated alterations on the mitochondrial enzyme activity of fungal cells only at concentrations >1,024 µg/mL. The results of the action of this EO on human erythrocytes indicated that it has low cytotoxic activity at MIC values. This investigation describes the antifungal action of T. vulgaris, showing its potential in the development of alternatives in the treatment of C. neoformans
Assuntos
Cryptococcus neoformans , Thymus (Planta) , AntifúngicosRESUMO
SPOAN syndrome is a neurodegenerative disorder mainly characterized by spastic paraplegia, optic atrophy and neuropathy (SPOAN). Affected patients are wheelchair bound after 15 years old, with progressive joint contractures and spine deformities. SPOAN patients also have sub normal vision secondary to apparently non-progressive congenital optic atrophy. A potential causative gene was mapped at 11q13 ten years ago. Here we performed next-generation sequencing in SPOAN-derived samples. While whole-exome sequencing failed to identify the causative mutation, whole-genome sequencing allowed to detect a homozygous 216-bp deletion (chr11.hg19:g.66,024,557_66,024,773del) located at the non-coding upstream region of the KLC2 gene. Expression assays performed with patient's fibroblasts and motor neurons derived from SPOAN patients showed KLC2 overexpression. Luciferase assay in constructs with 216-bp deletion confirmed the overexpression of gene reporter, varying from 48 to 74%, as compared with wild-type. Knockdown and overexpression of klc2 in Danio rerio revealed mild to severe curly-tail phenotype, which is suggestive of a neuromuscular disorder. Overexpression of a gene caused by a small deletion in the non-coding region is a novel mechanism, which to the best of our knowledge, was never reported before in a recessive condition. Although the molecular mechanism of KLC2 up-regulation still remains to be uncovered, such example adds to the importance of non-coding regions in human pathology.
Assuntos
Expressão Gênica , Proteínas Associadas aos Microtúbulos/genética , Atrofias Ópticas Hereditárias/genética , Deleção de Sequência , Paraplegia Espástica Hereditária/genética , Animais , Cromossomos Humanos Par 11 , Análise Mutacional de DNA , Neuropatia Hereditária Motora e Sensorial/genética , Humanos , Cinesinas , Síndrome , Peixe-Zebra , Proteínas de Peixe-Zebra/genéticaRESUMO
INTRODUCTION: Candida parapsilosis is a common yeast species found in cases of onychomycosis and candidemia associated with infected intravascular devices. In this study, we differentiated Candida parapsilosis sensu stricto, Candida orthopsilosis , and Candida metapsilosis from a culture collection containing blood and subungual scraping samples. Furthermore, we assessed the in vitro antifungal susceptibility of these species to fluconazole, itraconazole, voriconazole, posaconazole, amphotericin B, and caspofungin. METHODS: Differentiation of C. parapsilosis complex species was performed by amplification of the secondary alcohol dehydrogenase (SADH) gene and digestion by the restriction enzyme Ban I. All isolates were evaluated for the determination of minimal inhibitory concentrations using Etest, a method for antifungal susceptibility testing. RESULTS: Among the 87 isolates, 78 (89.7%) were identified as C. parapsilosis sensu stricto , five (5.7%) were identified as C. orthopsilosis , and four (4.6%) were identified as C. metapsilosis . Analysis of antifungal susceptibility showed that C. parapsilosis sensu strictoisolates were less susceptible to amphotericin B and itraconazole. One C. parapsilosis sensu stricto isolate was resistant to amphotericin B and itraconazole. Moreover, 10.2% of C. parapsilosis sensu stricto isolates were resistant to caspofungin. Two C. parapsilosis sensu strictoisolates and one C. metapsilosis isolate were susceptible to fluconazole in a dose-dependent manner. CONCLUSIONS: We reported the first molecular identification of C. parapsilosiscomplex species in State of Goiás, Brazil. Additionally, we showed that although the three species exhibited differences in antifungal susceptibility profiles, the primary susceptibility of this species was to caspofungin.