Uruguayan Family Research Articles

Coinnovación y asistencia técnica predial para contribuir a una transición sostenible de la ganadería en Uruguay

Abstract The transformation of the existing agrifood system towards more sustainable systems requires sociotechnical strategies that can boost radical changes. In Uruguay there is a community of practice committed to the sustainable development of family livestock farming which has developed alternative production practices, that improve the sustainability of farms based on ecological intensification, for more than fifteen years. Co-innovation as a modality of intervention was a fundamental aspect in the results achieved, being the work on farms a key factor, with a very special bond between extensionist and family. Taking this community of practice as a case study, this text characterizes co-innovation as a modality of intervention for farm technical assistance, offering a vision to enhance the scaling of the interventions and contribute to the sustainable transformation of livestock farming. Results are presented on: 1) general characteristics of the intervention modality, 2) stages of work and practices on farms, 3) characteristics of the family-extensionist bond and 4) lessons learned. Finally, key aspects are pointed out to scale co-innovation, in order to contribute to a sustainability transition of Uruguayan family livestock farming.

Avaliação multicritério da sustentabilidade de treze sistemas familiares pecuarios no Uruguai

In the context of agrarian intensification and unsustainability of family livestock farming in Uruguay, it is important to understand the critical elements of productive units to guide possible improvement strategies. This study integrates socioeconomic and environmental information collected through a system of records of the project “Improvements in Family Livestock Farming Sustainability in Uruguay” (inia, mgap and the Agricultural Plan Institute). The system evaluated, interpreted and identified critical points for extensive family farming systems. This study presents the constructions of a multicriteria approach of sustainability indicators incorporating environmental, social and productive aspects to evaluate 13 Uruguayan family livestock systems. The results show low relative values in the indicators of the environmental dimension, allowing to direct possible changes in the practices of the productive system. On the other hand, with this case study, the importance of considering a multidimensional vision in the analysis of production systems is evident in order to contemplate all their complexity and identify the critical aspects to take into account.

Closing sustainability gaps on family farms: Combining on-farm co-innovation and model-based explorations

In Uruguay sustainability of family farm systems is threatened by soil degradation, low yields and excessive workloads resulting in low labour productivity, low family income and high erosion rates. The productive and environmental performances of most Uruguayan family farms are well below levels achievable with current resource availability. This paper aims to show the productive and environmental improvements simultaneously possible by addressing resource management and organization of the farm system as a whole. We report results from two learning cycles on 4 case study farms and address their interdependence. The first cycle involved on-farm re-design in a co-innovation process that led to significant improvements in the performance of the case study farms. The insights gained during co-innovation work were used to parameterize a bio-economic whole-farm model to explore the space for further performance improvement and to inform future co-innovation processes. The two learning cycles characterized three farm performance levels: the initial farm performance (IniFP), representing the state of the farm at the start of co-innovation, the improved farm performance (ImpFP) at the end of co-innovation, and the attainable farm performance (AttFP) estimated with the FarmImages model. Difference between ImpFP and AttFP represent the sustainability gap. After three years of co-innovation, family income on the four farms improved by 16 to 350%, while labour productivity increased by 11% to 214%. Model explorations showed that significant further improvement in socio-economic results was possible while maintaining soil erosion under the tolerance level. The strategies identified differed among the four farms depending on their resource endowment and the technologies available, confirming the need for a systemic perspective and tailor-made solutions. We show how an inclusive whole-farm approach comprising co-innovation and model-based explorations contributes to connecting scientific insights with practical contextualization to close sustainability gaps on family farms.

Mobilizing Ecological Processes for Herbivore Production: Farmers and Researchers Learning Together

Grazing plays a key role in reducing the external inputs required for ruminant production and in alleviating feed-food competition. Beyond the production of meat and milk, grassland-based systems provide a wide range of ecosystem services. Agroecology and organic farming aim to reconcile natural resource management and food production, in the long term, based on the management of ecological processes. In this perspective paper, we report what we have learned from case studies with beef cattle, sheep, and dairy cattle across Uruguay and western Europe, in which we have been involved. Multicriteria methods, such as Pareto frontiers and positive deviances, were used to analyze trade-offs and identify win-wins from farm surveys. Long-term farm networks coupled with bioeconomic optimization models revealed fluctuations in farm income and allowed estimating system resilience. Extensive farmlet experiments made it possible to integrate knowledge on animal physiology and grassland ecology in the system redesign process and to test for innovative and risky management options that could lead to unacceptable learning costs in commercial farms. Finally, learning from farmers' local knowledge in teams with researchers and technical advisers can provide positive changes in grazing systems. In Uruguayan family farms, for example, the scientific knowledge gained from farmlet experiments led to advice on management options based on farm-specific diagnosis. Farmers adapted the proposals, with researchers supporting the processes by providing quantitative information on consequences and spaces for reflection. In a French cheese production area, the focus was on farmers' own experience. Games facilitated interactions as participants could challenge each other's reasoning and conclusions in a safe environment. These two case studies illustrate the diversity of co-innovation approaches, but in both cases knowledge sharing between researchers, farmers, and other stakeholders appeared more efficient to help farmers understand and adapt their own system properties than researching best practice solutions for large-scale transfer.

Presencia y desafíos de los personajes femeninos en la obra narrativa de Marisa Silva Schultze: exilio, memoria y olvido

En el marco de las xenografías femeninas interculturales, Marisa Silva Schultze (Montevideo, 1956) es un ejemplo ilustrativo de la vivencia del exilio en Europa a consecuencia de la represión militar en los años 70 y 80 en Latinoamérica. Su novela autobiográfica de ficción, Apenas diez (2006), narra la vida de una familia uruguaya que vive el reencuentro de tres generaciones, la abuela, la hija y la nieta, y cada una percibe la realidad de acuerdo a sus experiencias vitales. Andrea visita a su familia materna en Montevideo donde vivió durante tres años y después se exilió con su madre a Suecia para vivir una vida liberada del dolor del pasado. La oposición memoria vs olvido articula el punto de vista de todos los personajes. Andrea decide regresar a la sociedad europea en la que ha podido desarrollar su vida, siendo la música el espacio de su realización personal.

The –(α)5.2 Deletion Detected in a Uruguayan Family: First Case Report in the Americas

In Uruguay, α-thalassemia (α-thal) mutations were introduced predominantly by Mediterranean European immigrant populations and by slave trade of African populations. A patient with anemia with hypochromia and microcytosis, refractory to iron treatment and with normal hemoglobin (Hb) electrophoresis was analyzed for α-thal mutations by multiplex gap-polymerase chain reaction (gap-PCR), automated sequencing and multiplex ligation-dependent probe amplification (MLPA) analyses. Agarose gel electrophoresis of the multiplex gap-PCR showed a band of unexpected size (approximately 700 bp) in the samples from the proband and mother. Automated sequencing of the amplified fragment showed the presence of the –(α)5.2 deletion (NG_000006.1: g.32867_38062del5196) [an α-thal-1 deletion of 5196 nucleotides (nts)]. The MLPA analysis of the proband’s sample also showed the presence of the –(α)5.2 deletion in heterozygous state. We report here the presence of the –(α)5.2 deletion, for the first time in the Americas, in a Uruguayan family with Italian ancestry, detected with a previously described multiplex gap-PCR.

Comparison of different sample treatments for the determination of As, Cd, Cu, Ni, Pb and Zn in globe artichoke (Cynara cardunculus L. subsp. Cardunculus)

New and environmentally friendly procedures for the determination of nutritious and harmful elements in highly consumed foodstuffs such as vegetables are needed. Three accurate and efficient methods for the extraction of As, Cd, Cu, Ni, Pb and Zn in globe artichoke were optimized and validated. The sample preparation methodologies developed consisted of extraction with diluted acid assisted by either an ultrasonic probe or an ultrasonic bath, and an ozone-based treatment of the acid solution. The elements were determined by flame atomic absorption spectrometry, electrothermal atomic absorption spectrometry and hydride generation atomic absorption spectrometry. Experimental conditions were optimized by means of multivariate experiments. A comparative study using Student's t-test to establish whether there was a difference between using ultrasound (probe and bath) or ozone was performed. The results showed that the three methods were adequate for the extraction of As, Cd, Cu, Ni, Pb and Zn in globe artichoke. Trueness was verified by analysis (n=6) of a certified reference material and by performing a total digestion with a microwave-assisted procedure. At the 95% significance level, results were statistically equivalent to the certified values and to those obtained by total digestion for all the elements. Analytical precision expressed as relative standard deviation (RSD (%), n=6) was less than 10% in all cases. Samples of globe artichoke from a Uruguayan family farmer were analyzed. Results showed that globe artichoke fruits and leaves are a promising source of Cu and Ni and particularly they are a good source of Zn.Regarding food safety monitoring, the proposed methods can be easily implemented in laboratories for routine analysis of As, Cd and Pb in these crops, with the advantage of being straightforward and in good agreement with Green Chemistry.

FUNCIONAMIENTO FAMILIAR Y TRASTORNOS DE LA CONDUCTA ALIMENTARIA. UNA INVESTIGACIÓN DESDE EL MODELO CIRCUMPLEJO

El objetivo de este trabajo ha sido describir el funcionamiento de las familias con un miembro con Trastorno de la Conducta Alimentaria (TCA) y comparar su funcionamiento con familias normativas según las variables del Modelo Circumplejo. La muestra estuvo conformada por 63 participantes, miembros de 16 familias uruguayas en las que uno de sus miembros se encontraba en tratamiento de rehabilitación específico. Los resultados indicaron que estas familias poseen poca cohesión y flexibilidad en comparación con las familias normativas, mostrándose en su gran mayoría con un funcionamiento caótico, desligado, enmarañado y rígido con mayores dificultades en la comunicación y con baja satisfacción familiar. Considerando el rol, se encontraron diferencias en la percepción del funcionamiento familiar principalmente entre los padres y el resto de los miembros de las familias. Estos resultados plantean a los clínicos la necesidad de trabajar con todo el sistema familiar para abordar la problemática de los TCA.

BRCA1 and BRCA2 Next Generation Sequencingwith methodological improvements in HBOC Uruguayan families.

e12531 Background: Among the hereditary causes of breast cancer, hereditary breast and ovarian cancer (HBOC) syndrome, caused by mutations in the BRCA1 or BRCA2 genes, has been considered the most ...

G.O.8: A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G)

Limb-girdle muscular dystrophies (LGMD) are a heterogeneous group of genetically determined muscle disorders with a primary or predominant involvement of the pelvic or shoulder girdle musculature. More than 20 genes with autosomal recessive (LGMD2A to LGMD2Q) and autosomal dominant inheritance (LGMD1A to LGMD1H) have been mapped/identified to date. Mutations are known for six among the eight mapped autosomal dominant forms: LGMD1A (myotilin), LGMD1B (lamin A/C), LGMD1C (caveolin-3), LGMD1D (desmin), LGMD1E (DNAJB6), and more recently for LGMD1F (transportin-3). Our group previously mapped the LGMD1G gene at 4q21 in a Caucasian-Brazilian family. We now mapped a Uruguayan family with patients displaying a similar LGMD1G phenotype at the same locus. Whole genome sequencing identified, in both families, mutations in the HNRPDL gene. HNRPDL is a heterogeneous ribonucleoprotein (hnRNP) family member, which participates in mRNA biogenesis and metabolism. Functional studies performed in Saccharomyces cerevisiae showed that the loss of HRP1 (yeast orthologue) had pronounced effects on both protein levels and cell localizations, and yeast proteome revealed dramatic reorganization of proteins involved in RNA processing pathways. In vivo analysis showed that hnrpdl is important for muscle development in zebrafish, causing a myopathic phenotype when knocked down. The present study presents a novel association between a muscular disorder and a RNA-related gene and reinforces the importance of RNA binding/processing proteins in muscle development and muscle disease. Understanding the role of these proteins in muscle might open new therapeutic approaches for muscular dystrophies. CEPID-FAPESP, INCT, CNPq and ABDIM/AACD.

A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G)

Limb-girdle muscular dystrophies (LGMD) are a heterogeneous group of genetically determined muscle disorders with a primary or predominant involvement of the pelvic or shoulder girdle musculature. More than 20 genes with autosomal recessive (LGMD2A to LGMD2Q) and autosomal dominant inheritance (LGMD1A to LGMD1H) have been mapped/identified to date. Mutations are known for six among the eight mapped autosomal dominant forms: LGMD1A (myotilin), LGMD1B (lamin A/C), LGMD1C (caveolin-3), LGMD1D (desmin), LGMD1E (DNAJB6), and more recently for LGMD1F (transportin-3). Our group previously mapped the LGMD1G gene at 4q21 in a Caucasian-Brazilian family. We now mapped a Uruguayan family with patients displaying a similar LGMD1G phenotype at the same locus. Whole genome sequencing identified, in both families, mutations in the HNRPDL gene. HNRPDL is a heterogeneous ribonucleoprotein family member, which participates in mRNA biogenesis and metabolism. Functional studies performed in S. cerevisiae showed that the loss of HRP1 (yeast orthologue) had pronounced effects on both protein levels and cell localizations, and yeast proteome revealed dramatic reorganization of proteins involved in RNA-processing pathways. In vivo analysis showed that hnrpdl is important for muscle development in zebrafish, causing a myopathic phenotype when knocked down. The present study presents a novel association between a muscular disorder and a RNA-related gene and reinforces the importance of RNA binding/processing proteins in muscle development and muscle disease. Understanding the role of these proteins in muscle might open new therapeutic approaches for muscular dystrophies.

Orígenes y posibilidades de desarrollo de la medicina familiar y comunitaria en Uruguay

Family and community medicine (FCM) in Uruguay recognizes two historical references that, in the context of the struggle against the dictatorship, spawned a people-oriented and scientifically-driven medicine. The Integrated National Health System (SNIS), created in 2007, is based on primary care and is consistent with curriculum reform undertaken in the medical career, which was reoriented towards people and students. The FCM residency was established in 1997 and has had a rapid expansion but is still insufficient for the needs of the model proposed by the NHIS. The policy to reprofile doctors’ role in the primary care level has not occurred. Since 2010, the Teaching and Clinical Care Units were set up in the public subsector in order to potentiate health services and to conduct research and teaching in primary care. In 2011, the Uruguayan Family and Community Society was created as an expression of the strengthening and growth of family medicine in the country. Notwithstanding, the road is still fraught with difficulties.

A new β0‐thalassemia frameshift mutation [β 48 (‐T)] in a Uruguayan family

SummaryWe describe here a new frameshift mutation of β‐thalassemia in a Uruguayan family with Italian ancestry [β48 (‐T); HBB:c.146delT]. This frameshift results in formation of premature stop codon (TGA) 40 bp downstream and in a short unstable product that is degraded in the cell.

BRCA1 and BRCA2 germline mutations in Uruguayan breast and breast–ovarian cancer families. Identification of novel mutations and unclassified variants

The aim of the present study was to analyze BRCA1 and BRCA2 mutations in Uruguayan families with breast and breast/ovarian cancer. Probands from 42 families with at least three cases of female breast cancer (BC) or two cases and subcriteria (paternal transmission, ovarian cancer, bilateral BC, male BC, Ashkenazi Jewish ancestry) in the same lineage, at least one diagnosed before age 50, were screened for germline mutations. PCR amplification of all exons and intron-exon boundaries were performed, followed by protein truncation test, heteroduplex analysis, and direct sequencing. We identified seven different truncating mutations in seven families, five in BRCA2 (three in site-specific BC families and two in breast-ovarian cancer families) and two in BRCA1 (one in a site-specific BC family and the other in a breast-ovarian cancer family). Both BRCA1 mutations (5583insT and 2687T>G) and one of the five BRCA2 mutations (3829insTdel35) were not previously reported. We also detected ten sequence variants of unknown significance, five of them not described before. The low frequency of BRCA1/2 mutations (0.17) is in agreement with that reported in studies which included families with similar selection criteria. However, the observed predominance of BRCA2 (0.12) over BRCA1 mutations (0.05) is in contrast with the higher proportion of BRCA1 mutations communicated for most previous studies, even those with a predominance of site-specific BC families. Meanwhile, it has been described in one Chilean and some Spanish and Italian reports, highlighting the strong dependence between the mutational spectra and the ethnicity of the population analyzed.

Desmin myopathy with severe cardiomyopathy in a Uruguayan family due to a codon deletion in a new location within the desmin 1A rod domain

Desmin myopathy is a heterogeneous neuromuscular disorder characterized by skeletal myopathy and cardiomyopathy, inherited mostly in an autosomal dominant pattern. We report a five generation Uruguayan family with severe cardiomyopathy and skeletal myopathy. Its most striking features are: atrial dilation, arrhythmia, conduction block and sudden death due to conduction impairment. Affected skeletal muscle shows alteration of mitochondria with paracrystallin inclusions and granulofilamentous material scattered in the muscle fibres. This family carries an unusual deletion p.E114del within the 1A rod domain of desmin. Transfected cells expressing the mutated desmin show punctuated and speckled cytoplasmic aggregates. The mutation causes a local conformational change in heptads a/d residues and charge positions. These findings lead to the hypothesis that coiled-coil interactions may be impaired, resulting in severe alterations in the desmin network. This is the first time that a mutation affecting this domain in the desmin molecule is described in a desminopathy.

Family history of breast cancer (BC) and biological and clinicopathologic features in Uruguayan BC patients

e11622 Background: Hereditary BC can have a distinct phenotype and behavior in comparison to sporadic BC. The aim of the present study was to investigate if there is any difference in the age at diagnosis, disease extension and biological profile in BC patients (pts) with or without a significant family history of BC. Methods: We retrospectively reviewed clinical charts of BC pts, stage 0- III who had surgery between March 2006 and March 2008. We included pts with known estrogen receptor (ER), progesterone receptor (PR) and HER2 status. The family history was obtained from the clinical charts and confirmed by a telephone interview with a standardized questionnaire. A significant family history of BC was defined by the presence of one of the following criteria: (1) 3 or more BC cases among close relatives, at least one diagnosed before 50 years (2) 2 BC cases among close relatives, at least one diagnosed before 50 years and one of the following: bilateral BC, ovarian cancer diagnosed in the family, male BC, father´s inheritance, Ashkenazi Jewish ancestry Results: 435 pts were identified, with available data on ER/PR and HER2 status in 197 pts. Family history was evaluated in 136 pts (69%) and was classified as significant in 18 (13.2%). Between pts with and without a significant family history of BC cancer there were no difference in the proportion of pts < 50 years old at diagnosis (0.36 vs. 0.39), T3/T4 tumours (0.08 vs. 0.11), axillary node positivity (0.55 vs 0.66), ER/PR+ (0.77 vs. 0.72), HER2 + (0.11 vs. 0.11) and triple negative tumors (0.19 vs 0.17). Conclusions: our data does not show any difference in the main prognostic and predictive factors between operable BC pts with and without a significant family history of BC. These findings are concordant with previous published data about a greater prevalence of BRCA2 mutations in Uruguayan families. No significant financial relationships to disclose.

Influence of farm resource endowment on possibilities for sustainable development: A case study for vegetable farms in South Uruguay

In different parts of the world, there is an urgent need for redesigning and innovating farming systems. Such a process may be supported by model-based explorations that enable ex-ante evaluation of a broad range of alternatives. Since a variety of viable patterns of farm development exists related to farm resource endowment and farmer's strategy, model-based explorations should be able to capture the existing variation in resource endowment and strategies in order to have impact on strategic farm management. In this paper, we present an overview of the model-based explorative method based on the MILP model Farm Images, applied to explore options for sustainable development of vegetable farms in Canelón Grande, Uruguay. The method is used to gain insight into the impact of current farm resource endowment on the possibilities for sustainable development and on the resource use efficiency at farm scale. We maximized farm income for 128 different farm types in an environment-oriented scenario and in an income-oriented scenario. Farm types were defined by combining 4 farm sizes, 2 labor endowments, 4 irrigation endowments, 2 soil quality combinations and 2 mechanization levels. The results demonstrate a strong impact of farm resource endowment on possibilities for sustainable development, as well as synergy between labor, land and irrigated area on resource-use efficiency at farm scale. Farms with 10 ha of land or less, representing 47% of the farms in the Canelón Grande region, could only achieve a family income higher than the average income of Uruguayan families when the irrigated area was ca. 40% of the farm area. The achievement of environmental targets was less costly in terms of income on farms with a low rather than high labor availability per unit area and on farms with irrigation facilities.

A novel mutation (G114V) in the prion protein gene in a family with inherited prion disease

Inherited prion diseases are characterized by mutations in the PRNP gene encoding the prion protein (PrP). We report a novel missense mutation in the PRNP gene (resulting in a G114V mutation in PrP) in members of a Uruguayan family with clinical and histopathologic features of prion disease. Affected individuals were characterized by an early age at onset, initial neuropsychiatric symptoms, late dementia with prominent pyramidal and extrapyramidal symptoms, and long disease duration.

(GCG) 11 founder mutation in the PABPN1 gene of OPMD Uruguayan families

The dominant oculo-pharyngeal muscular dystrophy mutation consists of an expanded (GCN) 12–17 in the coding region of the PolyA Binding Protein Nuclear 1 gene. A founder effect has been demonstrated in Canadian and Bukhara Jewish populations with relatively high prevalence of this disease. Since the oculo-pharyngeal muscular dystrophy prevalence was remarkably high in Southern Uruguay, a founder effect was hypothesized. To identify the ancestral haplotype we determined the (GCN) repeat number and the variants of four intragenic SNPs in Uruguayan OPMD families and a control sample. All families carrying the mutation (GCG) 11(GCA) 3(GCG) shared a common ancestral haplotype and the age of the mutation was estimated in 37–53 generations by a composite likelihood method. One family carrying the (GCG) 9(GCA) 3(GCG) allele had a different haplotype. The genealogical and molecular data suggested that the common ancestors were Canary Islands' settlers that arrived in Uruguay in the XIX century.

Hereditary nonpolyposis colorectal cancer (Lynch syndrome II) in Uruguay.

We updated an Uruguayan family with hereditary nonpolyposis colorectal cancer first described in 1977, incorporating knowledge of how the hMLH1 germline mutation has been established and shown to segregate in accord with the expected autosomal dominant mode of genetic transmission. DNA-based molecular genetic testing was performed in conjunction with genetic counseling. Individuals were provided with their genetic test results, so that at-risk family members would be able to benefit from targeted management programs. We counseled 19 members of this kindred, 13 of whom were positive for the hMLH1 germline mutation. Specific recommendations for surveillance and management were provided. We were able to describe follow-up, including anecdotal cancer survival and pathology findings extending from the initial 1977 report of this family to the present. A remarkable sibship within this kindred was comprised of eight siblings, six of whom underwent resections for colorectal carcinoma between 1963 and 1971. Colon carcinomas before 1977 in this sibship were treated with classic hemicolectomies. Of those who had hemicolectomies for their first primary colorectal cancers, two had a second colon cancer primary, and two had a third colon cancer primary. Attention given to this extended family with hereditary nonpolyposis colorectal cancer has had a positive impact on the physician community in Uruguay, leading to the identification of additional families with hereditary nonpolyposis colorectal cancer.