Chilto (
Solanum betaceum
Cav.) is a traditional Andean crop, appreciated for its high nutritional and commercial value. Despite it is cultivated in many countries, the information about the ...diversity, and conservation of wild populations is still missing. The objectives of this work were to characterize wild populations of the species in northwestern Argentina, regarding the morphological traits of fruits and seeds, to decompose the observed phenotypic variability, and to look for associations between morphological and geographical distances. Fruit weight, length and equatorial diameter, pericarp thickness, pH, total soluble solids were measured in fruits from nine populations, and then a intra and inter population comparison was performed. The phenotypic variance was decomposed by a nested ANOVA. The associations between geographical and morphological distances were assessed by the Mantel test. A wide variability was found in fruit weight, pericarp thickness, and fruit length (24, 19 and 13% coefficient of variation, respectively). Nested ANOVA revealed significant differences in all fruit and seed traits among and within populations (
p
< 0.001). Fruit weight and length were the traits with the highest total phenotypic variation. The main contribution to phenotypic variance was made by the environmental variance, which includes differences in temperature, precipitation, humidity but also to the experimental error. There were no associations between morphological and geographical distances; although, neighboring populations showed greater similarity. Chilto wild populations have many important characteristics with high potential as a productive regional alternative and as asource for improvement.
Introduction: Seasonally dry tropical forests (SDTF) are one of the most threatened terrestrial ecosystems on the planet as a consequence of global change. They harbor high biodiversity and provide a ...wide range of ecosystem services; therefore, their conservation is a priority worldwide. Climate warming, as well as land use patterns, are leading to species distribution range shifts. Objective: The objective of this work was to study the current and future potential distribution of a SDTF representative tree species (Anadenanthera colubrina) in the Argentinian Sub Andean Piedmont nucleus and to assess the effects of land use and climate changes. Methods: Current and future potential distribution was modeled with Maxent, using 49 presence points and 20 variables. Climate change effects were estimated in four different temperature and carbon dioxide concentration scenarios. Land use changes were determined subtracting the deforested area until 2017 to the current and future potential distribution of the species. Results: A. colubrina current distribution represents 18 % of Northwestern Argentina. Land use changes decreased almost 25 % of it and climate change will probably cause a retraction in the East and a slight expansion towards the West and South of the current distribution. The synergistic effect of land use and climate change projected to the worst scenario would reduce 63 % of its current distribution. Conclusions: Our data demonstrate the central role of distribution range studies to assess the effects of anthropic activities. Climate change and land use change would have a negative and synergistic effect on the distribution of A. colubrina. Although a possible expansion of the Sub Andean Piedmont nucleus of SDTF would occur, this expansion may be limited by the Sub Andean mountain range that could act as an orographic barrier.
Resumen Introducción El glioblastoma es el tumor cerebral más frecuente. A pesar de los avances en su tratamiento, el pronóstico sigue siendo pobre, con una supervivencia media en torno a los 14 ...meses. Los costes directos, aquellos asociados al diagnóstico y el tratamiento de la enfermedad, han sido descritos ampliamente. Los costes indirectos, aquellos derivados de la pérdida de productividad debido a la enfermedad, han sido descritos en escasas ocasiones. Material y método Realizamos un estudio retrospectivo, incluyendo a los pacientes diagnosticados entre el 1 de enero del 2010 y el 31 de diciembre del 2013 de glioblastoma en el Hospital Universitario Donostia. Recogimos datos demográficos, relativos al tratamiento ofertado y la supervivencia. Calculamos los costes indirectos a través del método del capital humano, obteniendo datos de sujetos comparables según sexo y edad, y de mortalidad de la población general a través del Instituto Nacional de Estadística. Los salarios pasados fueron actualizados a euros de 2015 según la tasa de inflación interanual y los salarios futuros fueron descontados en un 3,5% anual en forma de interés compuesto. Resultados Revisamos a 99 pacientes, 46 mujeres (edad media 63,53 años) y 53 hombres (edad media 59,94 años). En 29 pacientes se realizó una biopsia y en los 70 restantes se realizó una cirugía resectiva. La supervivencia global media fue de 18,092 meses. Los costes indirectos totales fueron de 11.080.762 € (2015). El coste indirecto medio por paciente fue de 111.926 € (2015). Discusión A pesar de que el glioblastoma es un tipo relativamente poco frecuente de tumor, que supone el 4% de todos los tipos de cáncer, su mal pronóstico y sus posibles secuelas generan una mortalidad y morbilidad desproporcionadamente altas. Esto se traduce en unos costes indirectos muy elevados. El clínico debe ser consciente del impacto del glioblastoma en la sociedad y los costes indirectos deben ser tenidos en cuenta en los estudios de coste-efectividad para conocer las consecuencias globales de esta enfermedad.
Glioblastoma is the most common primary brain tumour. Despite advances in treatment, its prognosis remains dismal, with a mean survival time of about 14 months. Many articles have addressed direct ...costs, those associated with the diagnosis and treatment of the disease. Indirect costs, those associated with loss of productivity due to the disease, have seldom been described.
We conducted a retrospective study in patients diagnosed with glioblastoma at Hospital Universitario Donostia between January 1, 2010 and December 31, 2013. We collected demographics, data regarding the treatment received, and survival times. We calculated the indirect costs with the human capital approach, adjusting the mean salaries of comparable individuals by sex and age and obtaining mortality data for the general population from the Spanish National Statistics Institute. Past salaries were updated to 2015 euros according to the annual inflation rate and we applied a discount of 3.5% compounded yearly to future salaries.
We reviewed the records of 99 patients: 46 women (mean age 63.53) and 53 men (mean age 59.94); 29 patients underwent a biopsy and the remaining 70 underwent excisional surgery. Mean survival was 18.092 months for the whole series. The total indirect cost for the series was €11 080 762 (2015). Mean indirect cost per patient was €111 926 (2015).
Although glioblastoma is a relatively uncommon type of tumour, accounting for only 4% of all cancers, its poor prognosis and potential sequelae generate disproportionately large morbidity and mortality rates which translate to high indirect costs. Clinicians should be aware of the societal impact of glioblastoma and indirect costs should be taken into account when cost effectiveness studies are performed to better illustrate the overall consequences of this disease.
We present here the clinical, molecular and biochemical findings from 238 limb-girdle muscular dystrophy type 2A (LGMD2A) patients, representing ∼50% (238 out of 484) of the suspected calpainopathy ...cases referred for the molecular study of the calpain 3 (CAPN3) gene. The mean age at onset of LGMD2A patients was ∼14 years, and the first symptoms occurred between 6 and 18 years of age in 71% of patients. The mean age at which the patients became wheelchair bound was 32.2 years, with 84% requiring the use of a wheelchair between the age of 21 and 40 years. There was no correlation between the age at onset and the time at which the patient became wheelchair bound, nor between the sex of the patient and the risk of becoming wheelchair bound. Of the cases where the CAPN3 gene was not affected, ∼20% were diagnosed as LGMD2I muscular dystrophy, while facioscapulohumeral muscular dystrophy (FSHD) was uncommon in this sample. We identified 105 different mutations in the CAPN3 gene of which 50 have not been described previously. These were distributed throughout the coding region of the gene, although some exons remained free of mutations. The most frequent mutation was 2362AG→TCATCT (exon 22), which was present in 30.7% of the chromosomes analysed (146 chromosomes). Other recurrent mutations described were N50S, 550ΔA, G222R, IVS6-1G→A, A483D, IVS17+1G→T, 2069–2070ΔAC, R748Q and R748X, each of which was found in >5 chromosomes. The type of mutation in the CAPN3 gene does not appear to be a risk factor for becoming dependent on a wheelchair at a determined age. However, in the cases with two null mutations, there were significantly fewer patients that were able to walk than in the group of patients with at least one missense mutation. Despite the fact that the results of phenotyping and western blot might be biased due to multiple referral centres, producing a diagnosis on the basis of the classical phenotype is neither sufficiently sensitive (86.7%) nor specific (69.3%), although western blot proved to be even less sensitive (52.5%) yet more specific (87.8%). In this case LGMD2I was a relevant cause of false-positive diagnoses. Considering both the clinical phenotype and the biochemical information together, the probability of correctly diagnosing a calpainopathy is very high (90.8%). However, if one of the analyses is lacking, the probability varies from 78.3 to 73.7% depending on the information available. When both tests are negative, the probability that the sample comes from a patient with LGMD2A was 12.2%.
We report a large family with a temporal partial epilepsy syndrome inherited in an autosomal dominant mode, with a penetrance of about 80%. This epilepsy syndrome is benign, with age of onset in the ...second or third decade of life. It is characterized by rare partial seizures, usually secondarily generalized, arising mostly during sleep, without postictal confusion. There is a good response to the antiepileptic therapy but often a recurrence of seizures after drug withdrawal. The partial component, visual (lights, colors, and simple figures) or auditory (buzzing or “humming like a machine”), the existence of temporo‐occipital interictal electroencephalographic epileptiform abnormalities, and the hypoperfusion in the temporal lobe detected by interictal hexamethylpropyleneamine oxime–technetium 99m (HMPAO‐Tc99m) single‐photon emission computed tomography, strongly suggest a lateral temporal lobe origin. The genetic analysis found linkage to chromosome 10q, and localized a gene in a 15‐cM interval that overlaps a previously found localization for partial epilepsy in a large three‐generation family. This syndrome could be called autosomal dominant lateral temporal epilepsy. Ann Neurol 1999;45:182–188
Glioblastoma is the most common primary brain tumour. Despite advances in treatment, its prognosis remains dismal, with a mean survival time of about 14 months. Many articles have addressed direct ...costs, those associated with the diagnosis and treatment of the disease. Indirect costs, those associated with loss of productivity due to the disease, have seldom been described.
We conducted a retrospective study in patients diagnosed with glioblastoma at Hospital Universitario Donostia between January 1, 2010 and December 31, 2013. We collected demographics, data regarding the treatment received, and survival times. We calculated the indirect costs with the human capital approach, adjusting the mean salaries of comparable individuals by sex and age and obtaining mortality data for the general population from the Spanish National Statistics Institute. Past salaries were updated to 2015 euros according to the annual inflation rate and we applied a discount of 3.5% compounded yearly to future salaries.
We reviewed the records of 99 patients: 46 women (mean age 63.53) and 53 men (mean age 59.94); 29 patients underwent a biopsy and the remaining 70 underwent excisional surgery. Mean survival was 18.092 months for the whole series. The total indirect cost for the series was €11080762 (2015). Mean indirect cost per patient was €111926 (2015).
Although glioblastoma is a relatively uncommon type of tumour, accounting for only 4% of all cancers, its poor prognosis and potential sequelae generate disproportionately large morbidity and mortality rates which translate to high indirect costs. Clinicians should be aware of the societal impact of glioblastoma and indirect costs should be taken into account when cost effectiveness studies are performed to better illustrate the overall consequences of this disease.
El glioblastoma es el tumor cerebral más frecuente. A pesar de los avances en su tratamiento, el pronóstico sigue siendo pobre, con una supervivencia media en torno a los 14 meses. Los costes directos, aquellos asociados al diagnóstico y el tratamiento de la enfermedad, han sido descritos ampliamente. Los costes indirectos, aquellos derivados de la pérdida de productividad debido a la enfermedad, han sido descritos en escasas ocasiones.
Realizamos un estudio retrospectivo, incluyendo a los pacientes diagnosticados entre el 1 de enero del 2010 y el 31 de diciembre del 2013 de glioblastoma en el Hospital Universitario Donostia. Recogimos datos demográficos, relativos al tratamiento ofertado y la supervivencia. Calculamos los costes indirectos a través del método del capital humano, obteniendo datos de sujetos comparables según sexo y edad, y de mortalidad de la población general a través del Instituto Nacional de Estadística. Los salarios pasados fueron actualizados a euros de 2015 según la tasa de inflación interanual y los salarios futuros fueron descontados en un 3,5% anual en forma de interés compuesto.
Revisamos a 99 pacientes, 46 mujeres (edad media 63,53 años) y 53 hombres (edad media 59,94 años). En 29 pacientes se realizó una biopsia y en los 70 restantes se realizó una cirugía resectiva. La supervivencia global media fue de 18,092 meses. Los costes indirectos totales fueron de 11.080.762 € (2015). El coste indirecto medio por paciente fue de 111.926 € (2015).
A pesar de que el glioblastoma es un tipo relativamente poco frecuente de tumor, que supone el 4% de todos los tipos de cáncer, su mal pronóstico y sus posibles secuelas generan una mortalidad y morbilidad desproporcionadamente altas. Esto se traduce en unos costes indirectos muy elevados. El clínico debe ser consciente del impacto del glioblastoma en la sociedad y los costes indirectos deben ser tenidos en cuenta en los estudios de coste-efectividad para conocer las consecuencias globales de esta enfermedad.
El chilto o tomate de árbol, Solanum betaceum Cav., considerado un cultivo "subutilizado", es un árbol frutal de los Andes subtropicales, posiblemente con origen en las yungas de Bolivia y Argentina ...y domesticación prehispánica. A pesar de que su cultivo se ha difundido a otros países, como Nueva Zelanda que lo produce y exporta, es necesaria la conservación in situ, dirigida al mantenimiento y recuperación de poblaciones viables en el entorno donde han evolucionado sus caracteres distintivos. En Argentina, algunas comunidades lo cultivan en huertas y recolectan frutos de pequeñas poblaciones silvestres. Actualmente se realizan acciones para promover su producción y consumo, aunque su expansión se vería beneficiada con la diferenciación de variedades y la mejora en la calidad de la fruta, lo que requiere contar con información de la diversidad disponible. Se caracterizaron poblaciones de Salta y Jujuy con descriptores morfológicos de fruto y semilla y se evaluó la transferibilidad de marcadores SSR de Solanum lycopersicum L. al chilto. Se estudiaron aspectos de la biología floral y realizaron experimentos de polinización controlada. Se encontró amplia variabilidad fenotípica dentro y entre poblaciones, especialmente en relación al tamaño y color de los frutos. Se seleccionaron marcadores SSR para estudiar la diversidad genética. Se observó la existencia de autocompatibilidad, aunque requiere de un agente polinizador. La información obtenida, además de importante para la conservación del chilto, es valiosa para la selección de materiales destinados a una colección con fines de mejoramiento
Friedreich's ataxia is caused by mutations in the FRDA gene that encodes frataxin, a nuclear-encoded mitochondrial protein. Most patients are homozygous for the expansion of a GAA triplet repeat ...within the FRDA gene, but a few patients show compound heterozygosity for a point mutation and the GAA-repeat expansion. We analyzed DNA samples from a cohort of 241 patients with autosomal recessive or isolated spinocerebellar ataxia for the GAA triplet expansion. Patients heterozygous for the GAA expansion were screened for point mutations within the FRDA coding region. Molecular analyses included the single-strand conformation polymorphism analysis, direct sequencing, and linkage analysis with FRDA locus flanking markers. Seven compound heterozygous patients were identified. In four patients, a point mutation that predicts a truncated frataxin was detected. Three of them associated classic early-onset Friedreich's ataxia with an expanded GAA allele greater than 800 repeats. The other patient associated late-onset disease at the age of 29 years with a 350-GAA repeat expansion. In two patients manifesting the classical phenotype, no changes were observed by single-strand conformation polymorphism (SSCP) analysis. Linkage analysis in a family with two children affected by an ataxic syndrome, one of them showing heterozygosity for the GAA expansion, confirmed no linkage to the FRDA locus. Most point mutations in compound heterozygous Friedreich's ataxia patients are null mutations. In the present patients, clinical phenotype seems to be related to the GAA repeat number in the expanded allele. Complete molecular definition in these patients is required for clinical diagnosis and genetic counseling.
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