Enfermedad de Pompe de inicio tardío: análisis de una casuística de 19 pacientes mexicanos / Late onset Pompe disease: an analysis of 19 patients from Mexico

Introducción: La enfermedad de Pompe es una miopatía metabólica rara con espectro clínico heterogéneo, especialmente la de inicio tardío, cuya sintomatología es de progresión más lenta y representa un gran reto diagnóstico. Objetivo: Describir el genotipo y las características clínicas de pacientes mexicanos con Pompe de inicio tardío (LOPD). Material y métodos. Se incluyó a 19 pacientes mexicanos con LOPD confirmada mediante actividad enzimática y estudio molecular del gen GAA. Se evaluaron datos clínicos y se revisaron las mutaciones en bases de datos genómicas. Resultados: La mediana de edad de inicio de los síntomas fue de 19 años (rango: 2-43 años), y la edad de diagnóstico, de 36 años (rango: 9-52 años). Los síntomas más frecuentes fueron debilidad axial y proximal (n = 17; 89,5%), marcha basculante (n = 17; 89,5%) e hiperlordosis (n = 7; 36,8%). A 16 pacientes (84,2%) se les realizó electromiografía; 11 (57,8%) describieron patrón miopático y sólo en cinco pacientes (26%) se incluyó la valoración de los músculos paraespinales. Las variantes patogénicas más frecuentes en nuestra casuística fueron c.-32-13T>G, c.1799G>A y c.1082C>T. Conclusiones: Parecido a lo comunicado en publicaciones internacionales, la LOPD en México es clínicamente heterogénea; los pacientes pueden tardar años en llegar al diagnóstico. La debilidad muscular axial y proximal es el dato clínico más frecuente, por lo que la electromiografía debe incluir valoración de los músculos paraespinales. A excepción de una, las mutaciones encontradas en nuestra serie de casos se encuentran previamente descritas en las bases de datos de enfermedad de Pompe.(AU)

Introduction: Pompe disease (PD) is a rare metabolic myopathy with an ample and heterogeneous clinical spectrum, particularly late onset PD (LOPD), which is characterized by appearance at older age and slower disease progression, leading to diagnostic confirmation difficulty and delay. Aim: To describe the genotype and clinical characteristics of Mexican patients with LOPD. Material and methods: Clinical information from 19 Mexican patients with LOPD confirmed with enzyme activity and GAA gene analysis was reviewed. Genetic information of our population was crossed with international genetic databases. Results: Median age between onset of symptoms and diagnosis was 19 years (range 2-43) and diagnostic confirmation 36 years (range 9-52). Most frequently referred symptoms were proximal axial weakness (n = 17; 89.5%), waddling gait (n = 17; 89.5%) and hyperlordosis (n = 7; 36.8%). Sixteen patients (84.2%) were evaluated with electromyography; a myopathic pattern was reported in 11 (57.8%), but only in 5 patients (26%) paraspinal muscle evaluation was included. The most pathogenic mutations in our group were c.-32-13T>G, c.1799G>A and c.1082C>T. Conclusions: Similar to other international publications, LOPD in Mexico is clinically heterogeneous; patients may delay years before diagnosis is established. Axial and proximal weakness is the most frequent clinical feature; thus, electromyography with paraspinal muscle evaluation is essential. Except for one, the mutations found in our patients have been previously reported in PD genetic databases.(AU)

[Late onset Pompe disease: an analysis of 19 patients from Mexico]. / Enfermedad de Pompe de inicio tardío: análisis de una casuística de 19 pacientes mexicanos.

INTRODUCTION: Pompe disease (PD) is a rare metabolic myopathy with an ample and heterogeneous clinical spectrum, particularly late onset PD (LOPD), which is characterized by appearance at older age and slower disease progression, leading to diagnostic confirmation difficulty and delay. AIM: To describe the genotype and clinical characteristics of Mexican patients with LOPD. MATERIAL AND METHODS: Clinical information from 19 Mexican patients with LOPD confirmed with enzyme activity and GAA gene analysis was reviewed. Genetic information of our population was crossed with international genetic databases. RESULTS: Median age between onset of symptoms and diagnosis was 19 years (range 2-43) and diagnostic confirmation 36 years (range 9-52). Most frequently referred symptoms were proximal axial weakness (n = 17; 89.5%), waddling gait (n = 17; 89.5%) and hyperlordosis (n = 7; 36.8%). Sixteen patients (84.2%) were evaluated with electromyography; a myopathic pattern was reported in 11 (57.8%), but only in 5 patients (26%) paraspinal muscle evaluation was included. The most pathogenic mutations in our group were c.-32-13T>G, c.1799G>A and c.1082C>T. CONCLUSIONS: Similar to other international publications, LOPD in Mexico is clinically heterogeneous; patients may delay years before diagnosis is established. Axial and proximal weakness is the most frequent clinical feature; thus, electromyography with paraspinal muscle evaluation is essential. Except for one, the mutations found in our patients have been previously reported in PD genetic databases.

TITLE: Enfermedad de Pompe de inicio tardío: análisis de una casuística de 19 pacientes mexicanos.Introducción. La enfermedad de Pompe es una miopatía metabólica rara con espectro clínico heterogéneo, especialmente la de inicio tardío, cuya sintomatología es de progresión más lenta y representa un gran reto diagnóstico. Objetivo. Describir el genotipo y las características clínicas de pacientes mexicanos con Pompe de inicio tardío (LOPD). Material y métodos. Se incluyó a 19 pacientes mexicanos con LOPD confirmada mediante actividad enzimática y estudio molecular del gen GAA. Se evaluaron datos clínicos y se revisaron las mutaciones en bases de datos genómicas. Resultados. La mediana de edad de inicio de los síntomas fue de 19 años (rango: 2-43 años), y la edad de diagnóstico, de 36 años (rango: 9-52 años). Los síntomas más frecuentes fueron debilidad axial y proximal (n = 17; 89,5%), marcha basculante (n = 17; 89,5%) e hiperlordosis (n = 7; 36,8%). A 16 pacientes (84,2%) se les realizó electromiografía; 11 (57,8%) describieron patrón miopático y sólo en cinco pacientes (26%) se incluyó la valoración de los músculos paraespinales. Las variantes patogénicas más frecuentes en nuestra casuística fueron c.-32-13T>G, c.1799G>A y c.1082C>T. Conclusiones. Parecido a lo comunicado en publicaciones internacionales, la LOPD en México es clínicamente heterogénea; los pacientes pueden tardar años en llegar al diagnóstico. La debilidad muscular axial y proximal es el dato clínico más frecuente, por lo que la electromiografía debe incluir valoración de los músculos paraespinales. A excepción de una, las mutaciones encontradas en nuestra serie de casos se encuentran previamente descritas en las bases de datos de enfermedad de Pompe.

Effect of flower orientation on the male and female traits of Myrtillocactus geometrizans (Cactaceae).

Intra-individual variation in the production and size of reproductive traits has been documented in columnar cacti, being higher in equator-facing flowers. Such variation is attributed to the high amount of PAR intercepted by stems oriented towards the equator. Most studies focused on this phenomenon have documented the existence of intra-individual variation on traits associated with the female function; however, its impact on traits associated with the male function has been neglected. We tested the hypothesis that equator-facing flowers of Myrtillocactus geometrizans exhibit higher values on traits associated with both male and female functions than flowers facing against it. Number and size of anthers and ovaries, pollen:ovule ratio and number and quality of pollen grains (diameter, germinability, viability and pollen tube length) were estimated from reproductive structures facing north and south, and compared with t-tests between orientations. Number of anthers per flower, number of pollen grains per anther and per floral bud; pollen size, viability and germinability; pollen tube length; ovary length and pollen:ovule ratio were significantly higher in reproductive structures oriented towards the south (i.e. equator). These findings suggest that intra-individual variation in floral traits of M. geometrizans might be associated with different availability of resources in branches with contrasting orientation. Our results provide new evidence of the existence of a response to an orientation-dependent extrinsic gradient. To our knowledge, this is the first study documenting the existence of intra-individual variation on pollen quality and P:O ratio in Cactaceae species.

Influence of peak flow changes on the macroinvertebrate drift downstream of a Brazilian hydroelectric dam / Influência de alterações de vazão sobre a deriva de macroinvertebrados a jusante de uma barragem hidrelétrica brasileira

Successive daily peak flows from hydropower plants can disrupt aquatic ecosystems and alter the composition and structure of macroinvertebrates downstream. We evaluated the influence of peak flow changes on macroinvertebrate drift downstream of a hydroelectric plant as a basis for determining ecological flows that might reduce the disturbance of aquatic biota. The aim of this study was to assess the influence of flow fluctuations on the seasonal and daily drift patterns of macroinvertebrates. We collected macroinvertebrates during fixed flow rates (323 m3.s1 in the wet season and 111 m3.s1 in the dry season) and when peak flows fluctuated (378 to 481 m3.s1 in the wet season, and 109 to 173 m3.s1 in the dry season) in 2010. We collected 31,924 organisms belonging to 46 taxa in the four sampling periods. Taxonomic composition and densities of drifting invertebrates differed between fixed and fluctuating flows, in both wet and dry seasons, but family richness varied insignificantly. We conclude that macroinvertebrate assemblages downstream of dams are influenced by daily peak flow fluctuations. When making environmental flow decisions for dams, it would be wise to consider drifting macroinvertebrates because they reflect ecological changes in downstream biological assemblages.

Os sucessivos pulsos diários de vazão decorrentes da operação de usinas hidrelétricas podem perturbar os ecossistemas aquáticos e alterar a composição e estrutura de macroinvertebrados a jusante de barramentos. Nós avaliamos a influência de alterações de vazão sobre a deriva de macroinvertebrados a jusante de uma barragem hidrelétrica como subsídio para a determinação de vazões ecológicas que podem reduzir os distúrbios sobre a biota aquática. O objetivo deste estudo foi avaliar a influência das flutuações de vazão sobre os padrões sazonais e diários de deriva de macroinvertebrados. Nós coletamos os macroinvertebrados durante períodos de vazão fixa (323 m3.s1 na estação de chuvas e 111 m3.s1 na estação seca) e com flutuações de vazão (378 - 481 m3.s1 na estação de chuvas e 109 - 173 m3.s1 na estação seca) no ano de 2010. Foram coletados 31.924 organismos distribuídos em 46 taxa nos quatro períodos amostrais. A composição taxonômica e a densidade de invertebrados a deriva diferiram entre os períodos com vazão fixa e flutuante, tanto na estação de chuvas quanto na seca, mas a riqueza taxonômica não variou significativamente. Em conclusão, as comunidades de macroinvertebrados a jusante de barragens são influenciadas pelas flutuações diárias na vazão. Portanto, os macroinvertebrados a deriva devem ser considerados nos cálculos de vazões ambientais, pois eles claramente refletem as mudanças ecológicas nas comunidades biológicas a jusante de barragens hidrelétricas.

Tratamiento farmacológico de los síntomas del tracto urinario inferior en el hombre: aplicación de las recomendaciones en la práctica clínica / Pharmacological Treatment of Lower Urinary Tract Symptoms in Men: Implementation of Recommendations in Clinical Practice

Contexto: Presentar un documento de consenso sobre el tratamiento farmacológico de los síntomas del tracto urinario inferior (STUI) en el hombre para su aplicación en el ámbito de la urología en atención primaria. Adquisición de evidencia: Este documento de consenso se ha elaborado y consensuado por un comité de expertos en base a las últimas recomendaciones dadas en las Guías Europeas y Americanas, para el tratamiento de STUI en hombres. Además, se ha realizado una revisión bibliográfica de los últimos avances en el abordaje terapéutico de estos pacientes. Síntesis de evidencia: Aunque la prevalencia de STUI y vejiga hiperactiva es alta, y su impacto sobre la calidad de vida y los costes para la sociedad han sido bien documentados, el número de pacientes que reciben tratamiento es bajo. Por otro lado, la práctica clínica actual no concuerda con las Guías y por este motivo se generan ideas equivocadas sobre los tratamientos disponibles. Por ejemplo, los hombres con STUI de llenado son frecuentemente tratados de forma inadecuada con alfa-bloqueantes o inhibidores de la 5-alfa-reductasa, debido a la sospecha de trastornos obstructivos subyacentes. Sin embargo, hoy es sabido que la incidencia real de obstrucción es más bien baja. Las evidencias actuales, aunque limitadas, demuestran que los fármacos antimuscarínicos pueden ser empleados con seguridad clínica en hombres con STUI, no asociándose a incremento de la prevalencia de retención aguda de orina. Conclusión: Se propone un esquema para el manejo de los STUI en hombres en el que se muestran varios niveles de evaluación clínica requeridos para un diagnóstico específico y, también ,para la determinación de un tratamiento con los medicamentos más adecuados (AU)

Context: Introducing a consensus on pharmacological treatment of male LUTs to be applied to Urology Primary Care. Evidence compilation: The consensus has been created by an expert committee based on the latest recommendations by the European and American Guides for male LUTs treatment. Also, a bibliographic review of the latest advances in the therapeutical approach to these patients has been carried out. Evidence synthesis: Although the prevalence of both LUTs and overactive bladder is high, and its impact on the quality of life and social cost have been widely described, the number of patients treated is low. On the other hand, current clinical practice doesnıt necessarily match the Guides and for this reason false perceptions of the available treatments circulate. For instance, men with storage LUTS are often treated inadequately with alpha-blockers or 5-Alpha-reductaseinhibitors due to underlying obstructive disorders. However, it is known that the incidence of real obstruction tends to be low. Current evidence, though limited, shows that antimuscarinic drugs may be used safely by men with LUTs, and are not associated with an increase in the prevalence of high urinary retention. Conclusion: We propose an algorithm for the management of male LUTs in which various levels of clinical evaluation are shown for a specific diagnose, as well as for choosing the most appropriate treatment (AU)

Influence of peak flow changes on the macroinvertebrate drift downstream of a Brazilian hydroelectric dam.

Successive daily peak flows from hydropower plants can disrupt aquatic ecosystems and alter the composition and structure of macroinvertebrates downstream. We evaluated the influence of peak flow changes on macroinvertebrate drift downstream of a hydroelectric plant as a basis for determining ecological flows that might reduce the disturbance of aquatic biota. The aim of this study was to assess the influence of flow fluctuations on the seasonal and daily drift patterns of macroinvertebrates. We collected macroinvertebrates during fixed flow rates (323 m3.s-1 in the wet season and 111 m3.s-1 in the dry season) and when peak flows fluctuated (378 to 481 m3.s-1 in the wet season, and 109 to 173 m3.s-1 in the dry season) in 2010. We collected 31,924 organisms belonging to 46 taxa in the four sampling periods. Taxonomic composition and densities of drifting invertebrates differed between fixed and fluctuating flows, in both wet and dry seasons, but family richness varied insignificantly. We conclude that macroinvertebrate assemblages downstream of dams are influenced by daily peak flow fluctuations. When making environmental flow decisions for dams, it would be wise to consider drifting macroinvertebrates because they reflect ecological changes in downstream biological assemblages.

Pharmacological treatment of lower urinary tract symptoms in men: implementation of recommendations in clinical practice.

CONTEXT: Introducing a consensus on pharmacological treatment of male LUTs to be applied to Urology Primary Care. EVIDENCE COMPILATION: The consensus has been created by an expert committee based on the latest recommendations by the European and American Guides for male LUTs treatment. Also, a bibliographic review of the latest advances in the therapeutical approach to these patients has been carried out. EVIDENCE SYNTHESIS: Although the prevalence of both LUTs and overactive bladder is high, and its impact on the quality of life and social cost have been widely described, the number of patients treated is low. On the other hand, current clinical practice doesn't necessarily match the Guides and for this reason false perceptions of the available treatments circulate. For instance, men with storage LUTS are often treated inadequately with α-blockers or 5-α-reductase inhibitors due to underlying obstructive disorders. However, it is known that the incidence of real obstruction tends to be low. Current evidence, though limited, shows that antimuscarinic drugs may be used safely by men with LUTs, and are not associated with an increase in the prevalence of high urinary retention. CONCLUSION: We propose an algorithm for the management of male LUTs in which various levels of clinical evaluation are shown for a specific diagnose, as well as for choosing the most appropriate treatment.

Pollen:ovule ratio and its relationship with other floral traits in Papilionoideae (Leguminosae): an evaluation with Argentine species.

The pollen:ovule ratio (P/O) has traditionally been used as a rough estimator of plant breeding systems. It has been shown that plant breeding systems are associated with particular floral traits. In this study, we determined the P/O in 21 Leguminosae species from Argentina and explored relationships between P/O and taxonomic position, flower size, floral rewards, pollen presentation and pollination mechanisms. According to the results, 15 out of the 21 species classified were obligate xenogamous, although some of them have been recorded as facultative xenogamous in previous studies. There was a significant effect of taxonomic position (genus), reward type and pollination mechanism on P/O. Species offering only nectar as a floral reward (which were species with a brush mechanism) had a significantly lower P/O than species offering pollen or pollen and nectar. Species with the brush pollination mechanism had the lowest P/O, while species with valvular and pump mechanism had the highest P/O. However, pollen presentation (primary and secondary) and flower size did not have a significant effect on P/O. Our results demonstrate that P/O variability is determined by taxonomic position and pollination mechanism in this plant group.

Hemicorea-hemibalismo asociado a hiperglucemia no cetósica con hiperintensidad estriatal / Hemichorea-hemiballism associated to non-ketonic hyperglycemia with striatal hyperintensity

No disponible

No disponible

Seroprevalence of Taenia solium cysticercosis in pigs in a rural community of Honduras.

Several retrospective studies have shown that human Taenia solium cysticercosis is endemic in Honduras, but very few reports of porcine cysticercosis in rural communities have been published. To determine the local prevalence of this disease in pigs, a serological survey has been undertaken in a rural community, Salamá, in the Department of Olancho in central Honduras. Eighty-five families raising pigs in the community were randomly selected and sera were obtained from pigs older than one month of age. The sera were examined by the enzyme-linked immunoelectrotransfer blot assay (EITB). Of 192 porcine sera, 27.1% (52) were positive by the EITB. Seropositivity did not correlate with age and sex by statistical analysis. With respect to the number and the frequency of recognition of the seven diagnostic glycoprotein bands in the EITB, 67.3% of the positive serum specimens recognized only one band and 80.8% of them recognized GP42-39. Since recognition of GP42-39 has been reported as a characteristic of late infection, these results suggest that most of the seropositive pigs were in the late stage of infection (more than 5-8 weeks postinfection). It seems that pigs in this community may be infected with this parasite soon after the birth and be in a hyperendemic steady state. In view of a high prevalence of antibodies to T. solium in pigs or characteristics of the antigen detected by the EITB, the infection pressure of T. solium appears to be very high in this community. This is probably the case in most of the communities in Honduras.

Modelo de atencao integral a saude do adolescente: Projeto MAISA II - Unidade Clinica de Adolescentes - UERJ / Model of integral attention to Realth of the adolescent: Project MAISA II - Unit clinic of adolescents - UERJ

A Unidade Clinica de Adolescentes da Universidade do Estado do Rio de Janeiro, atraves do Projeto Modelo de Atencao Integral a Saude do Adolescente (Projeto MAISA II), apoiado pela Fundacao W.K.Kellogg, vem desenvolvendo uma experiencia de integracao das unidades de servico de saude nas comunidades proximas ao Campus Universitario. Para tal, vem se articulando com escolas do1o. e 2o. Graus, empresas, com o Camp vila Isabel, do Programa de Patrulheirismo; com algumas instituicoes de saude e organizacoes comunitarias. Este artigo traz os primeiros resultados deste projeto, demonstrando a importancia de se garantir a populacao adolescente, formas resolutivas e desburocratizadas na atencao a sua saude .

Cliking syndrome (a proposito de estudo eletro-oculografico). / Cliking syndrome: an electro-oculographic study

Os autores relatam um caso de sindrome de Brown intermitente. Fazem registro fotografico e eletro-oculografico. Chamam a atencao do upshoot em aducao e supraducao do olho afetado