Asociación de las determinantes de la seguridad alimentaria nutricional con la presencia de sobrepeso y obesidad en la población que acude a la unidad de epidemiología clínica del IINSAD de la Facultad de Medicina ­ UMSA / Association of the determinants of nutritional food safety with the presence of overweight and obesity in the population that comes to the clinical epidemiology unit of the IINSAD of the Faculty of Medicine - UMSA

OBJETIVO: identificar la asociación de las determinantes de la seguridad alimentaria con el sobrepeso y obesidad de la población que acude a la Unidad de Epidemiología Clínica del IINSAD de la Facultad de Medicina, Enfermería, Nutrición y Tecnología Médica ­ UMSA. MATERIAL Y MÉTODO: estudio de Casos y Controles, desarrollado en la Unidad de Epidemiologia Clínica del IINSAD de la Facultad de Medicina, UMSA. Ingresaron al estudio 288 personas, 144 casos y 144 controles, se aplicó la encuesta alimentaria, identificando el consumo y la frecuencia de alimentos y preguntas específicas sobre disponibilidad, acceso físico y económico a los alimentos. Se realizó una evaluación antropométrica para identificar los casos y controles. RESULTADOS: existe una probabilidad mayor de presentar sobrepeso u obesidad en la población con insuficiente acceso económico a los alimentos OR= 2.1 (IC95% 1.3-3.6 p=0.003). A mayor proporción de gasto en alimentos de una familia, mayor es el consumo de energía provenientes de carbohidratos y grasas OR= 30 (IC95% 23.6-58.8) p=0.000. No se encontró asociación entre la disponibilidad de alimentos y el lugar de aprovisionamiento. CONCLUSIONES: son factores asociados para la presencia de sobrepeso y obesidad los determinantes de seguridad alimentaria nutricional como ingreso destinado a la compra de los alimentos, el consumo alimentario en cantidad y calidad de la dieta consumida y adecuación de nutrientes, la disponibilidad de alimentos y el lugar de aprovisionamiento no presenta asociación

OBJECTIVE: to identify the association of food security determinants of overweight and obesity in the population attending the Clinical Epidemiology Unit of IINSAD Faculty of Medicine, Nursing, Nutrition and Medical Technology - UMSA La Paz, 2015. MATERIAL AND METHODS: an observational analytical case-control study, 288 individuals attending the IINSAD of the Faculty of Medicine, Nursing, Nutrition and Medical Technology - UMSA. 144 cases and 144 controls were analyzed. A food survey, where the consumption and food frequency and specific questions about availability, physical and economic access to food occurred was applied. Anthropometric assessment was performed to identify cases and controls. RESULTS: there is a greater likelihood of becoming overweight or obese in people with insufficient economic access to food OR = 2.1 (95% CI 1.3-3.6 p = 0.003). The greater the food expenditure proportion of a family, the greater is the consumption the energy from carbohydrates and fats OR = 30 (95% CI 23.6-58.8 p = 0.000). No association between the availability of food and the place of supply is found. CONCLUSIONS: there are factors associated to the presence of overweight and obesity determinants of nutritional food security such as income for the purchase of food, food consumption in quantity and quality of consumed diet and nutrient adequacy, the availability of food and the place of supplying is not considered associated for this study

Evaluation of the frequency of Candida spp. in hospitalized and non-hospitalized subjects / Avaliação da frequência de candida spp. em indivíduos hospitalizados e não hospitalizados

Abstract The aim of this study was to evaluate the frequency of Candida species between a non-hospitalized and a hospitalized population. For this purpose, samples of saliva were sampled through sterile swabs, moistened in peptone water and rubbed in the oral cavity of 140 individuals, from which, 70 were hospitalized patients from the Medical Clinic of a Teaching Hospital and the other 70 were non-hospitalized subjects. All saliva samples were plated in Sabouraud Dextrose agar added with Chloramphenicol and incubated at 36 °C for 48 hours. The morphology identification was performed through macroscopic and microscopic characterization, the CHROMagar Candida medium and the VITEK® system Yeast Biochemical Card (bio Mérieux SA, France). The results showed a colonization of Candida spp. in 85.7% the hospitalized individuals, where the species found were C. albicans (60%), C. tropicalis (23.4%), C. krusei (3.3%) and Candida spp. (13.3%). In the non-hospitalized individuals the colonization by Candida spp was 47.1%, and the species found were: C. albicans (45.5%), C.krusei (9.1%), C. guilliermondii (9.1% %), C. tropicalis (3.0%), C. famata (3.0%) and Candida spp. (30.3%). In spite of their presence in oral cavity in both groups, Candida spp. was more frequently isolated in hospitalized individuals, who were 6.73 times more likely to have this fungus in the oral cavity and were 3.88 times more likely to have Candida albicans.

Resumo O objetivo deste estudo foi avaliar a frequência de espécies de Candida entre uma população de indivíduos não-hospitalizados e hospitalizados. Para isto, amostras de saliva foram coletadas através de swabs estéreis, umedecidas em água de peptona e friccionadas na cavidade bucal de 140 indivíduos, dos quais 70 eram pacientes internados em uma Clínica Médica de um Hospital Escola e os outros 70 eram indivíduos não hospitalizados sem contato com ambiente hospitalar. Todas as amostras de saliva foram plaqueadas em ágar Sabouraud dextrose adicionadas de cloranfenicol e incubadas a 36 °C durante 48 horas. A identificação morfológica foi realizada através da caracterização macroscópica e microscópica, com o meio CHROMagar Candida e do sistema VITEK® Biochemical Card (bio Mérieux SA, França). Os resultados mostraram uma colonização de Candida spp. em 85,7% dos indivíduos hospitalizados, onde as espécies encontradas foram: C.albicans (60%), C. tropicalis (23,4%), C. krusei (3,3%) e Candida spp. (13,3%). Nos indivíduos não-hospitalizados a colonização por Candida spp foi de 47,1%, e as espécies encontradas foram: C. albicans (45,5%), C. krusei (9,1%), C. guilliermondii (9,1%), C. tropicalis (3,0%), C. famata (3,0%) e Candida spp. (30,3%). Apesar de sua presença na cavidade oral em ambos os grupos, Candida spp. foi mais freqüentemente isolada em indivíduos hospitalizados, que foram 6,73 vezes mais propensos a ter este fungo na cavidade oral e foram 3,88 vezes mais propensos a ter Candida albicans.

Ictiosis ligada al x tratada con tazarotene tópico / X-linked ichthyosis treated with tazarotene topic

La Ictiosis ligada al cromosoma X (ILX), es una genodermatosis poco frecuente que afecta a varones, se manifiesta a partir del período neonatal y se caracteriza por: xerodermia, hiperqueratosis, descamación y en algunos casos, manifestaciones extracutáneas. La delección total o parcial de la enzima sulfatasa esteroidea, es la causa de las manifestaciones clínicas. Presentamos el caso clínico, de un paciente con manifestaciones clínicas y hallazgos en la anatomía patológica, compatibles con esta entidad tratado con tazarotene (gel).

X-linked ichthyosis (XLI) is a rare genodermatosis that affects men and manifests from the neonatal period and is characterized by xeroderma, hyperkeratosis, desquamation and in some cases, extracutaneous manifestations. The disease is of chronic evolution and undergoes partial improvement in the summer season. The total or partial deletion of the steroid sulphatase enzyme is the cause of the clinical manifestations. We present the case of a patient with clinical manifestations and findings in the pathological anatomy compatible with this entity, as well as ITS treatment with topical tazarotene 0.1% (gel) Weekly controls were performed and clinical benefit of lesion-free skin was observed up to 6 weeks after treatment discontinuation, followed by the progressive appearance of brownish scales that became thick and adherent with the passage of time.

Prevalencia y factores de riesgo asociados para sobrepeso y obesidad en la población adulta de la ciudad de La Paz, gestión 2014 / Prevalence and associated risk factors for overweight and obesity in the adult population of the city of La Paz, Bolivia 2014

OBJETIVO: Determinar la prevalencia y factores de riesgo asociados para sobrepeso y obesidad en la población adulta de la ciudad de La Paz, gestión 2014 MATERIAL Y MÉTODO: Es un estudio transversal analítico, en 470 individuos de los 7 Macrodistritos de la ciudad de La Paz; Cotahuma, Max Paredes, Periférica, Centro, San Antonio, Sur y Mallasa. Se aplicó una encuesta desarrollada bajo el método STEPwise de vigilancia de los factores de riesgo de las enfermedades crónicas no transmisibles que consiste en dar un enfoque estandarizado de la OMS. RESULTADOS: La prevalencia de sobrepeso y obesidad es 60,8% (IC95%: 56.4%­65.2%), en mujeres fue de 62,6% (IC95%: 57.2%­68.0%) y en varones 57,6% (IC95%: 50.1%­65.1%). El riesgo de presentar sobrepeso y obesidad fue mayor según aumentaba la edad, OR=2.3 (IC95% 1.6-3.3 p=0.00), en las personas que dormían menos de 8 horas diarias, OR=2.53 (IC95% 1.7-3.7 p=0.00), en personas que fumaban OR=1.6 (IC95% 1.0-2.5 p=0.04), en personas que cursaron solo la primaria, OR=2.9 (IC95% 1.8-4.9 p=0.00), en las personas con hábitos alimentarios no saludables OR=5.6 (IC95% 2.6-9.8 p=0.00), en las personas que tienen una percepción de la imagen corporal que desacuerda con su estado nutricional actual OR=5.7 (IC95% 3.8­8.5 p=0.00), en las personas que están casadas o tienen pareja de hecho OR=2.5 (IC95% 1.7­3.8 p=0.00). CONCLUSIONES: La población estudiada presenta una elevada prevalencia de sobrepeso y obesidad, la misma observándose más en mujeres que en varones. Son factores de riesgo asociados para presentar sobrepeso y obesidad en la población adulta; las horas de sueño, habito de haber fumado, percepción de la imagen corporal, actividad física, estado civil, nivel de instrucción y los hábitos alimentarios.

OBJECTIVE: To determine the prevalence and associated risk factors for overweight and obesity in the adult population of the city of La Paz, term 2014 MATERIALS AND METHODS: This is a transversal analytical observational study, of 470 Individuals in the city of La Paz, on 7 Macrodistricts: Cotahuma, Max Paredes, Periférica, Centro, San Antonio, Sur and Mallasa. A survey was carried out under the STEPwise approach to survey risk factors for chronic non communicable diseases to provide a simple and standardized WHO approach. RESULTS: The prevalence of overweight and obesity is 60.8% (95% CI: 56.4% -65.2%), in women it was 62.6% (95% CI: 57.2% -68.0%) and in men 57.6% (50.1% -65.1%). The risk of overweight and obesity was higher as age increased, OR=2.3 (95% CI 1.6-3.3 p=0.00) in those who slept less than 8 hours per day, OR=2.5 (95% CI 1.7-3.7 p=0.00), in nonsmokers OR=1.6 (95% CI 1.0-2.5 p=0.04) in persons who completed only primary education, OR=2.9 (95% CI 1.8-4.9 p=0.00) in those with no healthy dietary habits OR=5.6 (95% CI 2.6-9.8 p=0.00) in those who have a perception of body image in disagreement with their current nutritional status OR=5.6 (95% CI 3.8-8.5 p=0.00), in people who are married or living with a partner OR=2.5 (95% CI 1.7-3.8 p=0.00). CONCLUSIONS: The study population has a high prevalence of overweight and obesity, which is more noticeable in women than in men. They are risk factors associated with being overweight and obesity in the adult population; the hours of sleep, smoking, and perception of body image, physical activity, marital status, education level and eating habits.

Evaluation of the frequency of Candida spp. in hospitalized and non-hospitalized subjects

Abstract The aim of this study was to evaluate the frequency of Candida species between a non-hospitalized and a hospitalized population. For this purpose, samples of saliva were sampled through sterile swabs, moistened in peptone water and rubbed in the oral cavity of 140 individuals, from which, 70 were hospitalized patients from the Medical Clinic of a Teaching Hospital and the other 70 were non-hospitalized subjects. All saliva samples were plated in Sabouraud Dextrose agar added with Chloramphenicol and incubated at 36 °C for 48 hours. The morphology identification was performed through macroscopic and microscopic characterization, the CHROMagar Candida medium and the VITEK® system Yeast Biochemical Card (bio Mérieux SA, France). The results showed a colonization of Candida spp. in 85.7% the hospitalized individuals, where the species found were C. albicans (60%), C. tropicalis (23.4%), C. krusei (3.3%) and Candida spp. (13.3%). In the non-hospitalized individuals the colonization by Candida spp was 47.1%, and the species found were: C. albicans (45.5%), C.krusei (9.1%), C. guilliermondii (9.1% %), C. tropicalis (3.0%), C. famata (3.0%) and Candida spp. (30.3%). In spite of their presence in oral cavity in both groups, Candida spp. was more frequently isolated in hospitalized individuals, who were 6.73 times more likely to have this fungus in the oral cavity and were 3.88 times more likely to have Candida albicans.

Resumo O objetivo deste estudo foi avaliar a frequência de espécies de Candida entre uma população de indivíduos não-hospitalizados e hospitalizados. Para isto, amostras de saliva foram coletadas através de swabs estéreis, umedecidas em água de peptona e friccionadas na cavidade bucal de 140 indivíduos, dos quais 70 eram pacientes internados em uma Clínica Médica de um Hospital Escola e os outros 70 eram indivíduos não hospitalizados sem contato com ambiente hospitalar. Todas as amostras de saliva foram plaqueadas em ágar Sabouraud dextrose adicionadas de cloranfenicol e incubadas a 36 °C durante 48 horas. A identificação morfológica foi realizada através da caracterização macroscópica e microscópica, com o meio CHROMagar Candida e do sistema VITEK® Biochemical Card (bio Mérieux SA, França). Os resultados mostraram uma colonização de Candida spp. em 85,7% dos indivíduos hospitalizados, onde as espécies encontradas foram: C.albicans (60%), C. tropicalis (23,4%), C. krusei (3,3%) e Candida spp. (13,3%). Nos indivíduos não-hospitalizados a colonização por Candida spp foi de 47,1%, e as espécies encontradas foram: C. albicans (45,5%), C. krusei (9,1%), C. guilliermondii (9,1%), C. tropicalis (3,0%), C. famata (3,0%) e Candida spp. (30,3%). Apesar de sua presença na cavidade oral em ambos os grupos, Candida spp. foi mais freqüentemente isolada em indivíduos hospitalizados, que foram 6,73 vezes mais propensos a ter este fungo na cavidade oral e foram 3,88 vezes mais propensos a ter Candida albicans.

Coleoptera associated with macrophytes of the genus Salvinia in four oxbow lakes in two river basins in southeast Brazil

Abstract Macrophytes in oxbow lakes represent an important substrate for the Coleoptera. Two oxbow lakes the Rio Paranapanema were studied and the other two Rio Mogi-Guaçu, in the State de São Paulo, Brasil. In this study, there is greater similarity between the communities of Coleoptera of lakes greater connectivity with the main river channel or the difference in the species of Salvinia collected in the lakes studied interferes Coleoptera fauna that uses as substrate. A total of 9,222 specimens of Coleoptera were collected and identified in 10 families and 40 genera. The analysis MDS for abundance of Coleoptera showed the grouping of the oxbow lakes the Paranapanema River and a distancing the oxbow lakes the Mogi-Guaçu. The PERMANOVA test did not reveal any difference in the fauna between the wet and dry periods. It was concluded that the connectivity between river and lake is not decisive for the richness and abundance of aquatic fauna of Coleoptera. Therefore, the richness and abundance of aquatic Coleoptera associated vary with the species of Salvinia used as substrate.

Resumo As macrófitas em lagoas marginais constituem um importante substrato para os Coleoptera. Foram estudadas duas lagoas marginais ao Rio Paranapanema e outras duas ao Rio Mogi-Guaçu, no estado de São Paulo, Brasil. Neste estudo, haverá maior similaridade entre as comunidades de Coleoptera das lagoas de maior conectividade com o canal princial do rio ou a diferença na espécie de Salvinia coletada nas lagoas estudadas interfere na fauna de Coleoptera que a utiliza como substrato. Foram coligidos 9.222 espécimes de Coleoptera sendo identificadas 10 famílias e 40 gêneros. A análise MDS para abundância de Coleoptera mostrou o agrupamento das lagoas marginais ao Rio Paranapanema e um distanciamento das lagoas marginais ao Rio Mogi-Guaçu. Os resultados da análise PERMANOVA não mostraram diferença na composição faunística entre os períodos de chuva e seca. Concluiu-se que a conectividade entre rio e lagoa não é determinante para a riqueza e abundância da fauna de Coleoptera aquáticos. Portanto, a riqueza e a abundância de Coleoptera aquáticos associados variam com as espécies de Salvinia utilizadas como substrato.

Coleoptera associated with macrophytes of the genus Salvinia in four oxbow lakes in two river basins in southeast Brazil / Coleoptera associados à Salvinia em quatro lagoas marginais pertencentes a duas bacias hidrográficas no estado de São Paulo, Brasil

Abstract Macrophytes in oxbow lakes represent an important substrate for the Coleoptera. Two oxbow lakes the Rio Paranapanema were studied and the other two Rio Mogi-Guaçu, in the State de São Paulo, Brasil. In this study, there is greater similarity between the communities of Coleoptera of lakes greater connectivity with the main river channel or the difference in the species of Salvinia collected in the lakes studied interferes Coleoptera fauna that uses as substrate. A total of 9,222 specimens of Coleoptera were collected and identified in 10 families and 40 genera. The analysis MDS for abundance of Coleoptera showed the grouping of the oxbow lakes the Paranapanema River and a distancing the oxbow lakes the Mogi-Guaçu. The PERMANOVA test did not reveal any difference in the fauna between the wet and dry periods. It was concluded that the connectivity between river and lake is not decisive for the richness and abundance of aquatic fauna of Coleoptera. Therefore, the richness and abundance of aquatic Coleoptera associated vary with the species of Salvinia used as substrate.

Resumo As macrófitas em lagoas marginais constituem um importante substrato para os Coleoptera. Foram estudadas duas lagoas marginais ao Rio Paranapanema e outras duas ao Rio Mogi-Guaçu, no estado de São Paulo, Brasil. Neste estudo, haverá maior similaridade entre as comunidades de Coleoptera das lagoas de maior conectividade com o canal princial do rio ou a diferença na espécie de Salvinia coletada nas lagoas estudadas interfere na fauna de Coleoptera que a utiliza como substrato. Foram coligidos 9.222 espécimes de Coleoptera sendo identificadas 10 famílias e 40 gêneros. A análise MDS para abundância de Coleoptera mostrou o agrupamento das lagoas marginais ao Rio Paranapanema e um distanciamento das lagoas marginais ao Rio Mogi-Guaçu. Os resultados da análise PERMANOVA não mostraram diferença na composição faunística entre os períodos de chuva e seca. Concluiu-se que a conectividade entre rio e lagoa não é determinante para a riqueza e abundância da fauna de Coleoptera aquáticos. Portanto, a riqueza e a abundância de Coleoptera aquáticos associados variam com as espécies de Salvinia utilizadas como substrato.

Is the Mattis Dementia Rating Scale appropriate to detect mild cognitive impairment? / ¿Es la Escala de Demencia de Mattis adecuada para detectar deterioro cognitivo leve?

Algunos estudios han intentado evaluar la capacidad de la Escala de Demencia de Mattis (MDRS) para detectar demencia incipiente o Deterioro Cognitivo Leve(DCL), pero los resultados no son claros. El objetivo de este estudio fue evaluar la sensibilidad y especificidad de la MDRS para detectar DCL, y localizar el puntaje de corte más adecuado para la población local. Metodología. Una batería neuropsicológica que incluyó la MDRS fue aplicada a 60 adultos mayores de ambos sexos (edad media=68.38, DE=6.80) en Córdoba, Argentina, quienes fueron clasificados según su estado cognitivo en “Normales” (34 casos) o “DCL” (26 casos) según su desempeño en la batería neuropsicológica administrada, excluyendo la puntuación en la MDRS. El criterio empleado fue el de la Sociedad Española de Neurología. Se realizaron comparaciones de medias y un análisis de regresión logística para evaluar la capacidad del MDRS para diferenciar ambos grupos y localizar el puntaje de corte. Resultados. Aunque la MDRS diferenció ambos grupos a partir de la media (p=.004), la precisión diagnóstica fue sólo del 63 por ciento al utilizar un puntaje de corte total de 133. La sensibilidad fue del 42 por ciento y la especificidad fue del 79 por ciento. Conclusiones. El MDRS no parece ser una herramienta útil para detectar DCL, ya que presenta numerosos casos mal clasificados. El desarrollo de herramientas más adecuado para detectar DCL resulta fundamental...

Some studies have tried to assess the Mattis Dementia Rating Scale (MDRS) capability to detect incipient dementia or Mild Cognitive Impairment (MCI), but the results are not clear. The aim of this research was to evaluate the sensitivity and specificity of the MDRS, and to localize the optimal cutoff score for MCI. Methodology. A neuropsychological battery that included the MDRS was administered to 60 older adults of both genders (Mean age=68.38, SD=6.80) in Córdoba, Argentina, who were then classified as “Control” (34 cases) or “MCI” (26 cases) according to performance in the neuropsychological evaluation, excluding the MDRS. The criteria used were those stated by the Sociedad Española de Neurología. We performed mean comparisons in order to evaluate if the MDRS was able to detect the group differences. Then, a logistic regression with the MDRS total score as the predictor variable and the group as the criterion variable was performed to determine the cutoff score. Results. Even though the mean comparisons showed a significant difference in the MDRS (p=.004), the diagnostic accuracy was only 63 percent with a 133 points cutoff score. The sensitivity was 42 percent and the specificity was 79 percent. Conclusions. The MDRS does not seem to be a useful tool to detect MCI since it generates numerous misclassified cases. The development of more accurate tools becomes fundamental in order to detect MCI...

Plantas medicinais utilizadas por idosos com diagnóstico de Diabetes mellitus no tratamento dos sintomas da doença / Medicinal plants used by elderly people with Diabetes mellitus in the treatment of the disease symptoms

Este trabalho teve como objetivo investigar as plantas medicinais utilizadas por idosos assistidos em uma Unidade Básica de Saúde de Pelotas-RS, com diagnóstico de Diabetes mellitus, como terapia complementar no tratamento dos sintomas da doença. Caracterizou-se por pesquisa qualitativa, realizada em julho de 2009, no município de Pelotas-RS. Foram entrevistados 18 idosos com idade entre 60 e 77 anos, sendo 14 do sexo feminino. Os participantes citaram 20 plantas medicinais utilizadas como terapia complementar no tratamento do Diabetes mellitus. Entre estas, as mais citadas utilizadas para diminuir os níveis de glicose no sangue foram Sphagneticola trilobata, Bauhinia spp. e Syzygium cumini, sendo que para as duas últimas há comprovação científica do efeito hipoglicemiante. A infusão foi a forma de preparo predominante. Considera-se importante a realização de estudos farmacológicos que investiguem os efeitos das plantas utilizadas pela população, a fim de que o uso proporcione os benefícios desejados e não cause danos à saúde.

This study aimed to investigate medicinal plants used as complementary therapy by the elderly with diabetes mellitus, assisted by a Health Basic Unit in Pelotas (RS, Brazil). This qualitative research was conducted in July 2009. Eighteen 60 to 77 years old elderly (14 of them female) were interviewed. The participants identified 20 medicinal plants used as complementary therapies in the treatment of diabetes mellitus. Among these, the most used ones to reduce the levels of glucose in the blood were Sphagneticola trilobata, Bauhinia spp. and Syzygium cumini. For the last two plants, there are scientific proofs of hypoglycemic effects. The infusion was the predominant form of preparation. Studies to investigate the pharmacological effects of plants used by the population have become very important, for providing scientific information on their possible health benefits and side effects.

A Brazilian family with hereditary inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia

Inclusion body myopathy associated with Paget disease and frontotemporal dementia (IBMPFD) is a progressive and usually misdiagnosed autosomal dominant disorder. It is clinically characterized by a triad of features: proximal and distal myopathy, early onset Paget disease of bone (PDB), and frontotemporal dementia (FTD). It is caused by missense mutations in the valosin-containing protein (VCP) gene. We describe here the clinical and molecular findings of the first Brazilian family identified with IBMPFD. Progressive myopathy affecting the limb girdles was detected by clinical examination followed by muscle biopsy and creatine kinase measurement. PDB was suggested after anatomopathological bone examination and FTD was diagnosed by clinical, neuropsychological and language evaluations. Brain magnetic resonance revealed severe atrophy of the anterior temporal lobes, including the hippocampi. A R93C mutation in VCP was detected by direct sequencing screening in subject W (age 62) and in his mother. Four more individuals diagnosed with "dementia" were reported in this family. We also present a comprehensive genotype-phenotype correlation analysis of mutations in VCP in 182 patients from 29 families described in the literature and show that while IBM is a conspicuously penetrant symptom, PDB has a lower penetrance when associated with mutations in the AAAD1 domain and FTD has a lower penetrance when associated with mutations in the Junction (L1-D1) domain. Furthermore, the R93C mutation is likely to be associated with the penetrance of all the clinical symptoms of the triad.

Fungos veiculados por sementes comerciais de braquiária / Fungi associated to commercial seed of braquiaria grass

Este trabalho objetivou avaliar a qualidade sanitária de 50 lotes comerciais de sementes de braquiária, produzidos em diferentes regiões nas safras de 2004-2005 e 2005-2006. Sementes de Brachiaria brizantha cvs. Marandu e Xaraés, B. decumbens cv. Basilisk, B. humidicola cv. Humidicola e B. ruziziensis cv. Ruziziensis, destinadas ao comércio interno, foram submetidas ao teste de sanidade pelo método de papel de filtro. Adicionalmente, avaliou-se a sanidade de sementes de 'Marandu' (2 lotes) e 'Basilisk' (1 lote) destinadas à exportação. As sementes foram distribuídas sobre papel de filtro acondicionado em gerbox e incubadas a 20º C, com fotoperíodo de 12h, durante sete dias. Os fungos secundários ou de armazenamento (FSA) mais frequentemente detectados nos lotes de braquiária foram Aspergillus sp. e Rhizopus sp. Quanto aos fungos potencialmente patogênicos (FP), constatou-se elevada frequência dos gêneros Bipolaris. Curvularia. Fusarium e Phoma. Em geral, foi elevada a incidência de Bipolaris sp., Fusarium sp. e Phoma sp. nas sementes. A ocorrência de Phoma sp. foi crítica, pois 42% dos lotes registraram índices superiores a 70%. Bipolaris sp., Fusarium sp. e Phoma sp. também foram associados às sementes de braquiária tipo exportação, em alguns casos, com incidência considerável. Os resultados revelaram que as sementes comerciais de braquiária apresentam baixa qualidade sanitária e que, em todas as regiões produtoras, existe pelo menos um fator afetando a sanidade dessas sementes.

This work aimed to evaluate the sanitary quality of 50 commercial lots of seeds of braquiaria grass, produced in different regions in the crop of 2004­2005 and 2005­2006. The lots consisted of seeds of the cultivars Brachiaria brizantha cvs. Marandu and Xaraes, B. decumbens cv. Basilisk, B. humidicola cv. Humidicola and B. ruziziensis cv. Ruziziensis. Additionally, seeds of 'Marandu' (2 lots) and 'Basilisk' (1 lot) for exportation were analyzed. The blotter test was used, at 20º C under alternating light and darkness in a 12h photoperiod, for 7 days. Aspergillus sp. and Rhizopus sp. were the secondary or storage fungi with greatest frequency in lots of seeds. High frequency of potential pathogenic fungi, specifically of the Bipolaris. Curvularia. Fusarium and Phoma genera, was observed. In general, there was a high incidence of Bipolaris sp., Fusarium sp. and Phoma sp. in braquiaria grass seeds. The occurrence of Phoma sp. was severe, because 42% of the lots showed incidence superior to 70%. Bipolaris sp., Fusarium sp. and Phoma sp. were associated to braquiaria grass seeds for exportation, in some cases, with significant incidence. The results evidenced the low sanitary quality of commercial seeds of braquiaria grass, and demonstrated that in all producer regions there is at least one factor affecting the sanitary quality of these seeds.

Association of polymorphisms at the ADIPOR1 regulatory region with type 2 diabetes and body mass index in a Brazilian population with European or African ancestry

Association studies between ADIPOR1 genetic variants and predisposition to type 2 diabetes (DM2) have provided contradictory results. We determined if two single nucleotide polymorphisms (SNP c.-8503G>A and SNP c.10225C>G) in regulatory regions of ADIPOR1 in 567 Brazilian individuals of European (EA; N = 443) or African (AfA; N = 124) ancestry from rural (quilombo remnants; N = 439) and urban (N = 567) areas. We detected a significant effect of ethnicity on the distribution of the allelic frequencies of both SNPs in these populations (EA: -8503A = 0.27; AfA: -8503A = 0.16; P = 0.001 and EA: 10225G = 0.35; AfA: 10225G = 0.51; P < 0.001). Neither of the polymorphisms were associated with DM2 in the case-control study in EA (SNP c.-8503G>A: DM2 group -8503A = 0.26; control group -8503A = 0.30; P = 0.14/SNP 10225C>G: DM2 group 10225G = 0.37; control group 10225G = 0.32; P = 0.40) and AfA populations (SNP c.-8503G>A: DM2 group -8503A = 0.16; control group -8503A = 0.15; P = 0.34/SNP 10225C>G: DM2 group 10225G = 0.51; control group 10225G = 0.52; P = 0.50). Similarly, none of the polymorphisms were associated with metabolic/anthropometric risk factors for DM2 in any of the three populations, except for HDL cholesterol, which was significantly higher in AfA heterozygotes (GC = 53.75 ± 17.26 mg/dL) than in homozygotes. We conclude that ADIPOR1 polymorphisms are unlikely to be major risk factors for DM2 or for metabolic/anthropometric measurements that represent risk factors for DM2 in populations of European and African ancestries.

Effect of polymorphisms of the MTHFR and APOE genes on susceptibility to diabetes and severity of diabetic retinopathy in Brazilian patients

Diabetes mellitus (DM) is a highly prevalent complex genetic disorder. There has been a worldwide effort in the identification of susceptibility genes for DM and its complications, and the 5-10-methylenetetrahydrofolate reductase (MTHFR) and apolipoprotein-E (APOE) genes have been considered good candidate susceptibility genes to this condition. The objectives of the present study were to determine if the 677T MTHFR and epsilon2/epsilon3/epsilon4 APOE alleles are risk factors for DM and for severity of diabetic retinopathy (DR). A total of 248 individuals were studied: 107 healthy individuals and 141 diabetic patients (46 with type 1 diabetes and 95 with type 2 diabetes), who also had DR (81 with non-proliferative DR and 60 with proliferative DR). The polymorphisms were analyzed by PCR followed by digestion with restriction enzyme or the single-nucleotide primer extension method. No evidence of association between the 677TT genotype of MTHFR gene and DM [cases: TT = 10/95 (10.6 percent); controls: TT = 14/107 (13 percent)] or with severity of DR was observed [cases: TT = 5/60 (8.5 percent); controls: TT = 9/81 (11.1 percent); P > 0.05]. We also did not find evidence of an association between APOE alleles and proliferative DR (epsilon2, epsilon3 and epsilon4 in cases: 9, 76, and 15 percent, and in controls: 5, 88, and 12 percent, respectively) but the carriers of epsilon2 allele were more frequent among patients with type 2 DM and DR than in controls [cases: 15/95 (15.8 percent); controls: 7/107 (6.5 percent); P < 0.05]. Therefore, our results suggest that the epsilon2 allele/APOE might be a risk factor for diabetes in the Brazilian population.

Changes in the fecal concentrations of cortisol and androgen metabolites in captive male jaguars (Panthera onca) in response to stress

In the present study we determined the efficacy of the measurement of fecal cortisol and androgen metabolite concentrations to monitor adrenal and testicular activity in the jaguar (Panthera onca). Three captive male jaguars were chemically restrained and electroejaculated once or twice within a period of two months. Fecal samples were collected daily for 5 days before and 5 days after the procedure and stored at -20ºC until extraction. Variations in the concentrations of cortisol and androgen metabolites before and after the procedure were determined by solid phase cortisol and testosterone radioimmunoassay and feces dry weight was determined by drying at 37ºC for 24 h under vacuum. On four occasions, fecal cortisol metabolite levels were elevated above baseline (307.8 ± 17.5 ng/g dry feces) in the first fecal sample collected after the procedure (100 to 350 percent above baseline). On one occasion, we did not detect any variation. Mean (± SEM) fecal androgen concentration did not change after chemical restraint and electroejaculation (before: 131.1 ± 26.7, after: 213.7 ± 43.6 ng/g dry feces). These data show that determination of fecal cortisol and androgen metabolites can be very useful for a noninvasive assessment of animal well-being and as a complement to behavioral, physiological, and pathological studies. It can also be useful for the study of the relationship between adrenal activity and reproductive performance in the jaguar.

Análise retrospectiva do Tumor Venéreo Transmissível (TVT) em cadelas, durante os anos de 1996 a 2002. Avaliação da resposta ao tratamento quimioterápico

O artigo não apresenta resumo.

Daño hematologico provocado por la radiación en el personal profesional que trabaja en el servicio de diagnostico por imagenes del hospital N° 1 de la caja Nacional de Salud / Is there a wbc decrease in the imaging diagnosis service's personal " Hospital Obrero n° 1 La Paz " after exposure to ionizing iradiation

Pregunta de investigación.- ¿Existirá disminución en el recuento de glóbulos blancos en el personal médico y en los técnicos radiólogos del Servicio de Diagnóstico por Imágenes del Hospital Obrero N° 1 de la Caja Nacional de Salud, de la ciudad de La Paz, por su frecuente exposición a las radiaciones ionizantes?Objetivo. Evaluar las modificaciones que sufre el recuento de gñóbulos blancos en los médicos y técnicos radiólogos que trabajan en el Servicio de Diagnoóstico por Imágenes del Hospital Obrero N° 1 de la Caja Nacional de Salud, (La Paz). Diseño Descriptivo, corte transversal. Lugar.- Servicio de Diagnóstico por Imagenes del Hospital Obrero N° 1 Caja Nacional de Salud ( La Paz-Bolivia). Participantes.- Médicos especialistas en Radiología, médicos residentes de Radiología y Técnicos radiólogos. Resultados.- Existe correlación negativa entre la cantidad de leucocitos y el tiempo de exposición a la radiación medido en horas semanales, esto quiere decir que a mayor tiempo de exposición, menor cantidad de leucocitos, encontrándose un valor de corrleación (rho=-0.66) y un valor p de la prueba de Spearman p>0.0030 (significativo), lo cual confirma que sí existe correlación negativa.

Diagnostico y tratamiento del sangrado uterino durante TRE/TRH / Abnormal uterine bleeding and HRT

La Terapia de Reemplazo Hormonal (TRH) produce evidentes efectos benéficos durante la postmenopausia. Su administración es, en general, bien tolerada. Sin embargo, uno de los principales efectos adversos de la TRH, es el sangrado irregular, el cual produce ansiedad tanto en la paciente como en el médico. Existen diversos compuestos y esquemas de administración de TRH, los cuales se describen y analizan al igual como las alternativas de manejo del sangrado

Los SERM en el manejo actual de la menopausia / The SERM for treatament of menopause

Los efectos adversos de la THS han estimulado la búsqueda de nuevos compuestos para la prevención y tratamiento de los síntomas postmenopáusicos. Entre otros varios compuestos, los SERM representan un grupo nuevo de drogas para el manejo de aspectos específicos de la menopausia. Hasta ahora, raloxifeno es el SERM más ampliamente conocido y usado para la prevención y tratamiento de la osteoporosis postmenopáusica. Sus efectos benéficos sobre el sistema cardiovascular y sobre la función cerebral, aún se investigan. Los mecanismos íntimos de acción de los SERM, aún se desconocen. Se cree que pueden actuar por diferentes vías, en el ámbito de la unión ligando-receptor o por activación de las secuencias promotoras de genes, diferente del elemento de respuesta estrogénica (ERE). En todos los casos, para lograr los mayores beneficios del empleo de un medicamento, su uso debe hacerse acorde con su propio perfil farmacológico y con el perfil de riesgos de cada paciente. Con este propósito, los SERM representan un elemento valioso para el manejo de la osteporosis postmenopáusica y de otras patologías asociadas con la menopausia

Clinical and molecular analysis of spinal muscular atrophy in brazilian patients

As amiotrofias espinhais progressivas (SMAs) constituem as doenças degenerativas de origem genética letais mais comuns do sistema nervoso central e mais freqüentes dentre as doenças autossômicas recessivas após a mucoviscidose. A incidência estimada das SMAs e de aproximadamente 1:10.000 nativivos. Clinicamente, as SMAs säo classificadas em mais grave (doença de Werdnig-Hoffmann, tipo I), intermediária (tipo II) e tardia e benigna (doença de Kugelberg-Welander, tipo III). O gene para os três tipos de SMAs foi mapeado no cromossomo 5q11.2-13.3. Foram identificados dois genes candidatos na mesma regiäo: SMN (sobrevida do neurônio motor) e NAIP (proteína inibidora de apoptose neuronal). Estudamos ambos genes em 87 pacientes brasileiros (20 tipo I, 14 tipo II e 53 tipo III) pertencentes a 74 famílias, utilizando as técnicas de PCR e SSCP. Foi encontrada deleçäo nos exons 7 e/ou 8 do gene SMN em 69 por cento das famílias: 16/20 na tipo I, 9/12 na tipo II e 26/42 na tipo III. Dentre as 51 famílias com deleçäo, 44 tiveram deleçäo no exon 5 do gene NAIP foi encontrada em 7/20 na tipo I, 2/12 na tipo II e 1/42 na tipo III. Näo foi encontrada deleçäo nos genes SMN e NAIP nos 112 progenitores, 26 irmandades assintomáticas e 104 controles normais. Näo houve correlaçäo entre deleçäo de um ou ambos genes com a gravidade do quadro clínico.

Application of isotope-selective non-dispersive infrared spectrometry for the evaluation of the 13C-urea breath test: comparison with three concordant methods

The aim of this work was to compare the performance of isotope-selective non-dispersive infrared spectrometry (IRIS) for the 13C-urea breath test with the combination of the 14C-urea breath test (14C-UBT), urease test and histologic examination for the diagnosis of H. pylori (HP) infection. Fifty-three duodenal ulcer patients were studied. All patients were submitted to gastroscopy to detect HP by the urease test, histologic examination and 14C-UBT. To be included in the study the results of the 3 tests had to be concordant. Within one month after admission to the study the patients were submitted to IRIS with breath samples collected before and 30 min after the ingestion of 75 mg 13C-urea dissolved in 200 ml of orange juice. The samples were mailed and analyzed 11.5 (4-21) days after collection. Data were analyzed statistically by the chi-square and Mann-Whitney test and by the Spearman correlation coefficient. Twenty-six patients were HP positive and 27 negative. There was 100 per cent agreement between the IRIS results and the HP status determined by the other three methods. Using a cutoff value of delta-over-baseline (DOB) above 4.0 the IRIS showed a mean value of 19.38 (minimum = 4.2, maximum = 41.3, SD = 10.9) for HP-positive patients and a mean value of 0.88 (minimum = 0.10, maximum = 2.5, SD = 0.71) for negative patients. Using a cutoff value corresponding to 0.800 per cent CO2/weight (kg), the 14C-UBT showed a mean value of 2.78 (minimum = 0.89, maximum = 5.22, SD = 1.18) in HP-positive patients. HP-negative patients showed a mean value of 0.37 (minimum = 0.13, maximum = 0.77, SD = 0.17). IRIS is a low-cost, easy to manage, highly sensitive and specific test for H. pylori detection. Storing and mailing the samples did not interfere with the performance of the test.