Abstract Paper aims The paper proposes an enhancement to a focal company in the dairy supply chain, in order to support sustainable performance. Originality The authors conclude that previous life cycle assessment (LCA) studies did not recommend for dairy supply chain or use this approach to assess the environmental impacts in this chain. Research method A cradle-to-gate attributional life cycle assessment (LCA) study performed in a focal company and considering its transport and processing stages, and three scenarios were proposed as suitable. Main findings The impacts derive from energy use and transportation of feedstocks, and the use of cleaning products and certain types of packaging materials. A decrease of 46.5% of the impact in the photochemical oxidant formation category was achieved. Implications for theory and practice The results can identify the different impacts throughout the dairy chain associated with the main product’s life cycle, and the possibility of mitigating them.

The most frequent epigenetic alterations in Wilms tumor (WT) occur at WT2, assigned to 11p15. WT2 consists of two domains: telomeric domain 1 (DMRH19) that contains the IGF2 gene and an imprinted maternally expressed transcript (H19) and centromeric domain 2 (KvDMR) that contains the genes KCNQ1, KCNQ1OT1 and CDKN1C. In this work, we used pyrosequencing and MS-MLPA to compare the methylation patterns of DMRH19/KvDMR in blood and tumor samples from 40 WT patients. Normal constitutional KvDMR methylation indicated that most of the epigenetic alterations in WT occur at DMRH19. Constitutional DMRH19 hypermethylation (HM DMRH19) was observed in two patients with Beckwith-Wiedemann syndrome. Pyrosequencing and MS-MLPA showed HM DMRH19 in 28/34 tumor samples: 16/34 with isolated HM DMRH19 and 12/34 with concomitant HM DMRH19 and KvDMR hypomethylation, indicating paternal uniparental disomy. With the exception of one blood sample, the MS-MLPA and pyrosequencing findings were concordant. Diffuse or focal anaplasia was present in five tumor samples and was associated with isolated somatic HM DMRH19 in four of them. Constitutional 11p15 methylation abnormalities were present in 5% of the samples and somatic abnormalities in the majority of tumors. Combined analysis of DMRH19/KvDMR by pyrosequencing and MS-MLPA is beneficial for characterizing epigenetic anomalies in WT, and MS-MLPA is useful and reliable for estimation of DNA methylation in a clinical setting.

Com base em entrevista com José Carlos Cabral de Almeida, o artigo aborda a investigação que culminou no estabelecimento da etiologia genética da síndrome de Turner. Além de discutir especificamente esse processo, do qual fez parte, o entrevistado discorre sobre outros trabalhos que, em sua avaliação, marcaram as origens da citogenética. O artigo apresenta ainda a visão atual de Cabral sobre o desenvolvimento da genética clínica e a importância da citogenética em prover meios mais precisos de diagnose, prognóstico e controle das doenças genéticas. A conclusão aponta os trabalhos referidos como pioneiros e, até hoje, relevantes para a genética médica, especialmente no estudo dos cromossomos humanos, aspecto ainda fundamental para o sucesso da correlação de genética humana e processos de adoecimento.

Based on an interview with José Carlos Cabral de Almeida, who took part in the investigative process, the article explores the research that culminated in the establishment of the genetic etiology of Turner syndrome. Cabral de Almeida also discusses other work that he sees as landmarks in the birth of cytogenetics and offers his current view of the development of clinical genetics and the important role played by cytogenetics, which affords more precise means of diagnosis, prognosis, and control of genetic disorders. In its conclusion, the article points to pioneer work that continues to impact medical genetics, especially the study of human chromosomes, still fundamental to the success of linking human genetics and disease processes.

Partindo de uma abordagem etnográfica, realizada no Ambulatório de Síndrome de Down do Centro de Genética Médica José Carlos Cabral de Almeida, do Departamento de Genética do Instituto Fernandes Figueira, unidade materno-infantil da Fundação Oswaldo Cruz, este artigo objetiva explorar como o discurso médico e leigo tornam-se inteligíveis via o uso de figuras de linguagem, e articulando-se constroem uma idéia social homogênea da criança com síndrome de Down.

This article explores how medical and lay discourses make themselves intelligible by using figures of speech and jointly constructing a socially homogeneous idea of children with Down syndrome, based on an ethnographic study performed at the Down Syndrome Out-Patient Clinic in the José Carlos Cabral de Almeida Center for Clinical Genetics, part of the Department of Genetics at the Fernandes Figueira Institute, a Federal reference hospital for maternal and child health belonging to the Oswaldo Cruz Foundation.

Partindo de uma abordagem etnográfica, realizada no Ambulatório de Síndrome de Down do Centro de Genética Médica José Carlos Cabral de Almeida, do Departamento de Genética do Instituto Fernandes Figueira, unidade materno-infantil da Fundação Oswaldo Cruz, este artigo objetiva explorar como o discurso médico e leigo tornam-se inteligíveis via o uso de figuras de linguagem, e articulando-se constroem uma idéia social homogênea da criança com síndrome de Down.

This article explores how medical and lay discourses make themselves intelligible by using figures of speech and jointly constructing a socially homogeneous idea of children with Down syndrome, based on an ethnographic study performed at the Down Syndrome Out-Patient Clinic in the José Carlos Cabral de Almeida Center for Clinical Genetics, part of the Department of Genetics at the Fernandes Figueira Institute, a Federal reference hospital for maternal and child health belonging to the Oswaldo Cruz Foundation.

Este trabalho objetiva contribuir para a discussão acerca das características narrativas do discurso clínico. Para tanto parte de uma revisão bibliográfica e da análise semiótica de prontuários do Centro de Genética Médica José Carlos Cabral de Almeida, do Departamento de Genética, do Instituto Fernandes Figueira, unidade materno-infantil da Fundação Oswaldo Cruz. Todos os prontuários utilizados são referentes a portadores da síndrome de Down atendidos no Ambulatório Especializado de Síndrome de Down da referida unidade. O artigo aborda: a questão da possível oposição entre narrativa e ciência; a apresentação dos principais autores e de seus trabalhos que versam sobre narrativa e conhecimento médico; a exemplificação da epistemologia narrativa embutida no discurso médico, via a apresentação de um prontuário, assim como de um heredograma. A conclusão enfatiza a importância da narrativa para o processo de diagnose e tratamento, assim como a construção de um enredo por parte do médico onde se fazem presentes complexas interações biológicas, culturais e sociais.

This study aims to discuss the narrative epistemology contained in the medical practice. It was based upon a bibliographic review and a semiotic analysis of medical charts belonging to The Medical Genetic Center José Carlos Cabral de Almeida/Genetic Department/Fernandes Figueira Institute, a maternal-infant care unity of The Oswaldo Cruz Foundation. All the analysed charts referred to children diagnosed with Down syndrome that are being or were attended in the Down's Syndrome Outpatient of the above cited unity. The article appraises: the question concerning the possible opposition between narrative and science; a review of multiple authors and their works about narrative and medical knowledge; the narrative epistemology contained in the clinical discourse, using as example of such assumption one chart and one pedigree. The conclusion highlights how narrative is important to the process of diagnosis and treatment, and affirms the construction of a plot, by the physician, where biological, social and cultural interactions make themselves present.

Este trabalho objetiva contribuir para a discussão acerca das características narrativas do discurso clínico. Para tanto parte de uma revisão bibliográfica e da análise semiótica de prontuários do Centro de Genética Médica José Carlos Cabral de Almeida, do Departamento de Genética, do Instituto Fernandes Figueira, unidade materno-infantil da Fundação Oswaldo Cruz. Todos os prontuários utilizados são referentes a portadores da síndrome de Down atendidos no Ambulatório Especializado de Síndrome de Down da referida unidade. O artigo aborda: a questão da possível oposição entre narrativa e ciência; a apresentação dos principais autores e de seus trabalhos que versam sobre narrativa e conhecimento médico; a exemplificação da epistemologia narrativa embutida no discurso médico, via a apresentação de um prontuário, assim como de um heredograma. A conclusão enfatiza a importância da narrativa para o processo de diagnose e tratamento, assim como a construção de um enredo por parte do médico onde se fazem presentes complexas interações biológicas, culturais e sociais.

This study aims to discuss the narrative epistemology contained in the medical practice. It was based upon a bibliographic review and a semiotic analysis of medical charts belonging to The Medical Genetic Center José Carlos Cabral de Almeida/Genetic Department/Fernandes Figueira Institute, a maternal-infant care unity of The Oswaldo Cruz Foundation. All the analysed charts referred to children diagnosed with Down syndrome that are being or were attended in the Down's Syndrome Outpatient of the above cited unity. The article appraises: the question concerning the possible opposition between narrative and science; a review of multiple authors and their works about narrative and medical knowledge; the narrative epistemology contained in the clinical discourse, using as example of such assumption one chart and one pedigree. The conclusion highlights how narrative is important to the process of diagnosis and treatment, and affirms the construction of a plot, by the physician, where biological, social and cultural interactions make themselves present.

Os autores descrevem dois novos casos de displasia Geleofísica em irmãos, uma doença autossômica recessiva rara do metabolismo de glicoproteínas cujo defeito básico ainda não foi determinado.

The authors describe two additional cases of Geleophysic dysplasia in siblings, which is a rare autosomal recessive disorder of glycoprotein metabolism whose basic defects remain to be determined.

Os autores descrevem um novo caso de monossomia parcial do braço longo do cromossomo 6 [46,XY,del (6)(q22 <font SIZE="3" face="Symbol">®</font> qter)]. A ocorrência de retardo psicomotor severo é esperada em função do paciente apresentar um dos maiores segmentos deletados além da banda 6q25.

The authors report an additional case of partial monosomy of the long arm of chromosome 6 [46,XY,del (6)(q22 <font SIZE="3" face="Symbol">®</font> qter)]. Our patient has a large segment beyond 6q25 deleted, then severe psychomotor retardation is expected to occur.

Qualitative samples of flora and fauna were collected in several points, from the supralittoral fringe down to 30 m, using mainly aqualungs. Species distribution and abundance were determined along four transects, up to 200 m long, in selected places. Samples were taken from 25 x 25 cm quadrats positioned at fixed intervals along the transects down to a variable depth, depending on algal percentage cover and their substrate. The intertidal zone was populated essentially by molluscs. The subtidal was covered predominantly by macroalgae. Montastrea cavernosa, Siderastrea stellata and Mussismillia hispida were the only animal species with a significant percentage cover within the quadrats. Dictyopteris justii, D. plagiograma, Dictyota cervicornis, D. linearis, D. mertensii, Sargassum platycarpum, Sargassum sp, and Stypopodium zonale were the plants with the highest biomass and/or percentage cover, along with Amphiroa fragilissima, Caulerpa verticillata, and crustose corallines. The scarcity of sea urchins, along with the dominance of algae known to produce chemical feeding deterrents or to have a calcareous nature, points towards a strong pressure by predators, with fishes probably playing a key role in the maintenance of the structure of this subtidal community.