ABSTRACT Spinal muscular atrophy (SMA) has gained much attention in the last few years because of the approval of the first intrathecal treatment for this neurodegenerative disease. Latin America needs to develop the demographics of SMA, timely access to diagnosis, and appropriate following of the standards of care recommendations for patients. These are essential steps to guide health policies. Methods This was a descriptive study of a cohort of SMA patients from all over Chile. We analyzed the clinical, motor functional, and social data, as well as the care status of nutritional, respiratory and skeletal conditions. We also measured the SMN2 copy number in this population. Results We recruited 92 patients: 50 male; 23 SMA type-1, 36 SMA type-2 and 33 SMA type-3. The median age at genetic diagnosis was 5, 24 and 132 months. We evaluated the SMN2 copy number in 57 patients. The SMA type-1 patients were tracheostomized and fed by gastrostomy in a 69.6 % of cases, 65% of SMA type-2 patients received nocturnal noninvasive ventilation, and 37% of the whole cohort underwent scoliosis surgery. Conclusion Ventilatory care for SMA type-1 is still based mainly on tracheostomy. This Chilean cohort of SMA patients had timely access to genetic diagnosis, ventilatory assistance, nutritional support, and scoliosis surgery. In this series, SMA type-1 is underrepresented, probably due to restrictions in access to early diagnosis and the high and early mortality rate.

La Atrofia Muscular Espinal (AME) ha concitado mucha atención en los últimos 2 años debido a la aprobación del primer tratamiento intratecal para esta enfermedad neurodegenerativa. América Latina necesita desarrollar la demografía de AME, un acceso oportuno al diagnóstico y un seguimiento apropiado de los pacientes que incorporen los estándares de atención recomendados por expertos. Estos son pasos esenciales para orientar las futuras políticas de salud en esta enfermedad. Métodos Este es un estudio descriptivo de una cohorte de pacientes con AME de todo el país. Se analizaron los datos clínicos, motores, funcionales, sociales y el estado nutricional, respiratorio y esquelético de los pacientes. También medimos el número de copias del gen SMN2 en esta población. Resultados se reclutaron 92 pacientes, 50 varones; 23 AME tipo 1, 36 AME tipo 2 y 33 AME tipo 3. La edad media al diagnóstico genético fue de 5, 24 y 132 meses respectivamente. Evaluamos el número de copias de SMN2 en 57 pacientes. Un 69,6% de los pacientes con AME tipo 1 estaban traqueostomízados y gastrostomizados , un 65% de los pacientes con AME tipo 2 usaban ventilación nocturna no invasiva y el 37% de toda la cohorte presentaba una cirugía de escoliosis. Conclusión Esta cohorte chilena de pacientes con AME tuvo acceso oportuno al diagnóstico genético, asistencia ventilatoria, apoyo nutricional y cirugía de escoliosis, sin embargo, la atención ventilatoria para AME tipo 1 continúa aun basándose principalmente en la traqueostomía. En esta serie, AME tipo 1 está subrepresentada, probablemente debido a las restricciones en el acceso al diagnóstico temprano y la tasa de mortalidad alta y temprana.

Hereditary muscular diseases are rare disorders, due to a genetic defect that causes an alteration in the structure or function of the muscle fibers. They may present at any stage of life and their definitive diagnosis usually requires muscle biopsy. While the most frequent hereditary myopathies have a relatively characteristic clinical presentation, there is a substantial part thereof in which the symptoms are non-specific and the definitive diagnosis may take a long time. Magnetic Resonance Imaging (MRI) has earned a place in the diagnostic process of this last group of myopathies, confirming the presence of muscle involvement and raising diagnostic approaches based on its distribution, information that guides the immunohistochemical and/or genetic study necessary for the definitive diagnosis. In this article we review the basic study protocols with MRI of the myopathies and their interpretation, also showing some cases of these diseases.

Las enfermedades musculares hereditarias son patologías raras, debidas a un defecto genético que causa una alteración en la estructura o funcionamiento de las fibras musculares. Pueden debutar en cualquier etapa de la vida y su diagnóstico definitivo suele requerir de biopsia muscular. Si bien las miopatías hereditarias más frecuentes tienen una presentación clínica relativamente característica, existe una parte importante de ellas en que los síntomas son poco específicos y su diagnóstico definitivo puede tomar largo tiempo. La Resonancia Magnética (RM) ha ganado un espacio en el proceso diagnóstico de este último grupo de miopatías, confirmando la presencia del compromiso muscular y planteando aproximaciones diagnósticas en base a su distribución, información que acota el estudio inmunohistoquímico y/o genético necesario para el diagnóstico definitivo.En el presente artículo revisaremos los protocolos de estudio básico con RM de las miopatías y su interpretación, mostrando también algunos casos de estas enfermedades.

To explore the effects of deforestation and resulting differences in vegetation and land cover on entomological parameters, such as anopheline species composition, abundance, biting rate, parity and entomological inoculation rate (EIR), three villages were selected in the Lower Caura River Basin, state of Bolívar, Venezuela. All-night mosquito collections were conducted between March 2008-January 2009 using CDC light traps and Mosquito Magnet(r) Liberty Plus. Human landing catches were performed between 06:00 pm-10:00 pm, when anophelines were most active. Four types of vegetation were identified. The Annual Parasite Index was not correlated with the type of vegetation. The least abundantly forested village had the highest anopheline abundance, biting rate and species diversity. Anopheles darlingi and Anopheles nuneztovari were the most abundant species and were collected in all three villages. Both species showed unique biting cycles. The more abundantly forested village of El Palmar reported the highest EIR. The results confirmed previous observations that the impacts of deforestation and resulting changes in vegetation cover on malaria transmission are complex and vary locally.

Se registran por primera vez Anopheles albitarsis F y Anopheles oswaldoi B recolectadas en localidades de los Municipios Sucre y Cedeño del estado Bolívar. Los análisis morfométricos de hembras adultas mostraron que los caracteres analizados en las manchas claras y oscuras de la vena Costa del ala y los tarsómeros de las patas posteriores para An. albitarsis F caen dentro de los rangos reportados para An. marajora sensu lato, mientras que para An. oswaldoi B los rangos de variación de los caracteres medidos están dentro del rango reportado para An. oswaldoi s.l., An. oswaldoi sensu stricto de Brasil y An. konderi. Sin embargo, el análisis de ADN mitocondrial (región código de barras, 658 pb) mostró una divergencia genética entre An. oswaldoi B y An. oswaldoi s.s. de 3,2%, mientras entre An. albirtarsis F y An. marajoara s.s. esta fue de 5,2%, valores que están por encima de los limites propuestos para delimitación de especies.

Anopheles albitarsis F and Anopheles oswaldoi B were first recorded from collections in Sucre and Cedeño Municipalities, Bolivar State. Morphometric analysis of dark and pale spots on wing Costa and hind tarsomeres of adult females, showed that the range of variation for An. albitarsis F are within the reported ranges for An. marajoara sensu latu For An. oswaldoi B the range of variation are within the ranges reported for An. oswaldoi s.l., An. oswaldoi sensu stricto from Brazil and An. konderi. DNA mitochondrial analysis (Barcode region 658 bp) showed 3.2% of genetic divergence between An. oswaldoi B and An. oswaldoi s.s., while this divergence was 5.2% between An. albirtarsis F and An. marajoara s.s. Both these values are above the proposed limits for species delimitation.

The efficiency of the Mosquito Magnet Liberty PlusTM (MMLP) trap was evaluated in comparison to human-landing catches (HLCs) to sample anopheline populations in Jabillal, state of Bolivar, southern Venezuela. The village comprised 37 houses and a population of 101; malaria in this village is primarily due to Plasmodium vivax and the Annual Parasite Index is 316.8 per 1,000 population. A longitudinal study was conducted between June 2008-January 2009 for three nights per month every two months between 17:30 pm-21:30 pm, a time when biting mosquitoes are most active. Anopheles darlingi and Anopheles nuneztovari were the most common species collected by both methods, whereas Anopheles marajoara was more abundant according to the HLC method. The MMLP trap was more efficient for collecting An. nuneztovari [63%, confidence interval (CI): 2.53] than for collecting An. darlingi (31%, CI: 1.57). There were significant correlations (p < 0.01) between the two methods for An. darlingi [Pearson correlation (R²) = 0.65] and An. nuneztovari (R² = 0.48). These preliminary results are encouraging for further investigations of the use of the MMLP trap for monitoring anopheline populations in remote malaria-endemic areas in the Amazon Basin.

Los mapas de riesgo de malaria se han usado para apoyar la optimización de recursos humanos, materiales y financieros disponibles para la prevención y control de la enfermedad. En Venezuela, estos mapas se basan en el Índice Parasitario Anual donde se clasifican municipios en diferentes intervalos de riesgo. Los mismos tienen poca resolución espacial, usan intervalos de riesgo muy amplios y no consideran múltiples factores de riesgo tales como comportamiento biológico de parásitos y vectores, condiciones favorables al contacto hombre-vector y para la prevención y control de la enfermedad. El objetivo del trabajo es identificar áreas de riesgo de malaria en la cuenca del río Caura, estado Bolívar, Guayana venezolana, basado en una evaluación multicriterio de variables ambientales y antrópicas favorables para la transmisión de la malaria. Los criterios de riesgo se expresaron en capas de imágenes raster usando reglas de decisión y se normalizaron usando lógica difusa. La combinación de los criterios produjo un mapa síntesis de valores continuos de riesgo de transmisión de malaria basado en índices de: a) conveniencia climática para la viabilidad de Anopheles darlingi y Plasmodium spp.; b) conveniencia geomorfológica y de vegetación para la formación de criaderos; c) preferencias de ocupación humana y, d) vulnerabilidad de las comunidades. El mapa se reclasificó en niveles de riesgo y se evaluó superponiendo sobre éste el número de casos de malaria acumulados por nivel de riesgo entre 2000 y 2010, y se discute su importancia para la vigilancia epidemiológica en la región.

Malaria risk maps have been used to support the optimization of the use of human, material and financial resources for the prevention and control of the disease. In Venezuela, these maps are based on annual parasite index, where municipalities are classified using different risk intervals. These maps have low spatial resolution, use risk intervals too broad and do not consider multiple risk factors and their different spatial and temporal scales (eg. biological behavior of parasites and vectors, conditions conducive to man-vector contact and potentially favorable conditions to the prevention and control of the disease). The aim of this study was to identify risk areas of malaria in the Caura River Basin (Venezuelan Guayana), based in a multi-criteria evaluation of climatic, geographical and anthropogenic variables and their suitability for malaria transmission. The risk criteria were expressed spatially as raster image layers using decision rules and normalized using fuzzy logic. The combination of different criteria produced a synthesis map of continuous values of risk of malaria transmission based on the following indexes: a) climatic suitability for the viability of Anopheles darlingi and Plasmodium spp., b) geomorphologic and vegetation suitability for vector hatcheries; c) human occupation preferences and d) vulnerability of communities. The resultant map was reclassified in levels of risk and it was evaluated overlaying the number of cases accumulated per level of risk between 2000 and 2010, and its epidemiological surveillance importance is discussed for the region.

Type I myotonic dystrophy or Steinert's disease (DM1, OMIM 160900), is an autosomal dominant mulsystem disease of variable expresión caused by a (CTG)n, expansion mutation in the gene encoding for the myotonic dystrophy protein kinase (DMPK) in 19ql3. The disease is characterized by a phenomenon of anticipation, resulting in a more severe expression of the disease in successive generations, in correlation with the size of the triplet expansion. The congenital form of the disease, ussually of maternal transmisión, may cause polyhidramnios, foetal or neonatal death, or a sever neonatal floppy infant syndrome charaterized by facial diplegia, dysphagia, respiratory distress syndrome and a variable degree of mental retardation in 60% of the cases. The aim of this report is to describe a DM1 affecting a 35 years old woman and her fetus of 28 weeks of gestation at the moment of diagnosis. We describe the evolution of the pregnancy and her neonate, we discuss the reciprocal influence between pregnancy and the disease, enhacing the antenatal and neonatal complications.

La distrofia miotónica de Steinert o tipo I (DM1, OMIM 160900), es una enfermedad multisistémica, autosómica dominante de penetrancia variable, causada por la expansión del tupíete (CTG)n, en el gen que codifica para la proteína kinasa de la distrofia miotónica (DMPK) en el cromosoma 19ql3. La enfermedad se caracteriza por un fenómeno de anticipación, producto del cual su expresión es mayor en generaciones sucesivas y correlaciona con la talla de la expansión. La forma congénita de la enfermedad, habitualmente de transmisión materna puede producir polthidramnios, muerte fetal o neonatal o un síndrome hipotónico neonatal severo con diplegia facial, disfagia, distress respiratorio y retardo mental de grado variable en un 60% de los casos. El presente reporte tiene por objeto comunicar un caso de DM1 en una mujer de 35 años y en su feto de 28 semanas de gestación al momento del diagnóstico. Describimos la evolución del embarazo y del neonato, se discute la influencia recíproca entre la enfermedad y el embarazo, con énfasis en las complicaciones antenatales y neonatales.

Se reporta por primera vez una lista de especies de anofelinos y culicinos presentes en el territorio indígena del Bajo Caura, estado Bolívar. Entre larvas y adultos se colectaron en total ocho especies de anofelinos pertenecientes a los subgéneros Anopheles Meigen, Lophopodomyia Antunes, Stethomyia Theobald, Nyssorhynchus Blanchard del género Anopheles Meigen y Chagasia bathana Dyar y 10 géneros de culicinos entre los cuales se identificaron siete especies. Se identificaron y caracterizaron los criaderos con base a la hidrología en arroyo, caño, manantial, laguna, pantano y charco. En colectas de estadíos inmaduros la especie más abundante fue Anopheles triannulatus (Neiva & Pinto), mientras que en colectas de adultos con cebos humanos y trampas CDC la especie más abundante fue el vector de malaria An. darlingi Root. Las trampas de luz ultravioleta resultaron ineficientes para capturar anofelinos y culicinos. Se reporta por primera vez para el estado Bolívar los géneros Coquillettidia Dyar y Johnbelkinia Zavortink, así como las especies Aedes (Ochlerotatus) fulvus (Wiedemann) y Ae. (Och.) serratus (Theobald).

This is the first report of anophelines and culicines species in the indigenous territory of the Lower Caura River, Bolívar State. A total of 8 species of anophelines belonging to the subgenus Anopheles Meigen, Lophopodomyia Antunes, Stethomyia Theobald, Nyssorhynchus Blanchard of the genus Anopheles Meigen and Chagasia bathana Dyar and 10 genera of culicines were collected and 7 species identified. Larval habitats were identified and characterized based on the hidrology in stream, small river, spring, lagoon, swamp and pool. Culicines were also collected in artificial and natural containers. The most abundant species in collections of inmature stages was Anopheles triannulatus (Neiva & Pinto), while in adult collections on human landing catches and CDC light traps the most abundant species was the malaria vector An. darling Root. Ultra violet up draft light traps were inefficient to collect anophelines and culicines. It is reported for the first time the presence in Bolívar State of the genus Coquillettidia Dyar and Johnbelkinia Zavortink, and the species Aedes (Ochlerotatus) fulvus (Wiedemann) and Ae. (Och.) serratus (Theobald).

La malaria está resurgiendo en Venezuela, especialmente al sur del país a pesar de los esfuerzos de prevención y control. En el estado Bolívar representó el 71,2 % de los 42.067 casos de malaria diagnosticados en el país para el año 2007, con una Incidencia Parasitaria Anual de 19,3 casos por cada 1.000 habitantes. Las comunidades indígenas en zonas remotas del estado Bolívar (cuenca del río Caura), consideran que la malaria representa uno de los problemas más importantes de salud pública y perciben la enfermedad como “últimamente incontrolable”, que genera costos socioeconómicos e impacta sus esfuerzos de desarrollo y conservación de sus hábitats tradicionales. En el 2005 se inicia el Proyecto Wesoichay dirigido a formular un modelo de gestión pública para controlar la malaria en la cuenca del Caura y, fortalecer las capacidades del gobierno y comunidades para instrumentarlo. Este trabajo presenta los resultados parciales de dicho proyecto. Los principales hallazgos evidencian vacíos de información pertinentes para la planificación y evaluación de la malaria; capacidad limitada de atención sanitaria y de investigación; aumento de las oportunidades de contacto hombre-vector promovido por la transformación de los ecosistemas alrededor de las comunidades y patrones de movilización de la población, dentro y fuera de su territorio tradicional y, baja participación comunitaria para identificar y adecuar respuestas a la prevención y el combate de la malaria.

Malaria is reemerging in Venezuela, especially in the south of the country despite prevention and control efforts. In 2007, the State of Bolívar represented 71.2% of the 29,940 cases of malaria diagnosed in the country, with an Annual Parasitic Index of 19.3 cases per 1,000 inhabitants. For indigenous communities that inhabit remote areas in the State of Bolívar (Caura river basin), malaria represents one of the most important problems of public health and they perceive the illness as “ultimately uncontrollable”, generating socioeconomic costs and affecting their development and conservation efforts of their traditional habitat. The Wesoichay Project started in 2005 to formulate a public management model for the control the malaria in the Caura river basin and to strengthen the capacity of the government and local communities to implement it. The main findings show information gaps pertinent for the planning and evaluation of malaria; limited health provision and research capacity; increase in human-vector contact opportunities due to the transformation of ecosystems around communities and population migration patterns inside and out of their traditional territory, and; low community participation to identify and adapt answers for malaria prevention and control.

Sediment samples from Tietê river were submitted to chemical and sequential extractions of heavy metals (Cd, Cr, Cu, Ni, Pb and Zn). It was followed a single extraction by using 0.1 mol L-1 hydrochloric acid and a sequential procedure to evaluate possible chemical associations described as exchangeable, carbonate, reducible oxides, sulfide, organic matter and residual fractions. High concentrations of heavy metals were determined at Pirapora reservoir, which is closer to the Metropolitan Area of São Paulo while for Barra Bonita reservoir, the results showed low concentrations for such elements. Acid volatile sulfides, grain size distribution and carbon contents were also determined.

Disulfiram is widely used for aversive treatment of alcoholism. Although it is well tolerated in most patients, one in 15,000 patients will develop peripheral neuropathy every year, which is frequently misdiagnosed as alcoholic neuropathy. Disulfiram neuropathy can be mild or severe, depending on diverse factors such as time of exposure and the dosage. Most patients will present with a motor-sensory neuropathy of the lower limbs, which tends to improve as disulfiram administration ceases, however some cases may remain with permanent sequelae. We report the clinical, laboratory and electrophysiological features of three patients who developed disulfiram neuropathy during treatment of alcoholism. Recovery was incomplete at 8 weeks after treatment cessation in all of them. No other findings justified the clinical features described in these patients. Considering the incidence of alcoholism and the wide use of disulfiram treatment in Chile, we suggest that disulfiram neuropathy is being underdiagnosed. We also stress the fact that disulfiram neuropathy could be avoided by using lower doses (Rev Méd Chile 2002; 130: 1037-42).