9 research outputs found

    Die Pflanzenareale : [Welt] : Sammlung kartographischer Darstellungen von Verbreitungsbezirken der lebenden und fossilen Pflanzen-Familien, -Gattungen und -Arten / 1/1 Saxifraga 1 : (Karte 1-3)

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    von A. Engler. Acer L. 1 : (Karten 4-5) / von F. Pax. Casuarina Forst : (Karte 6) / von L. Diels. Die Verbreitung der Arten der Gattung Soldanella L. : (Karte 7-8) / von F. Vierhapper. Pinus Pinea L. : (Karte 9) / von M. Rikli. Genista anglica L. : (Karte 10) / E. HannigExlibrisstempel: "Bibliothek des Botanischen Gartens u. Museums Berlin Dahlem" Exemplar der ETH-BI

    Staphylococcal toxic shock syndrome associated with disseminated intravascular coagulopathy leading to compartment syndrome of the lower extremity

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    We report a case of a 56-year old multimorbid male patient who was transferred to our specialized burn center with a combination of extensive blistering with underlying deep tissue necrosis, disseminated intravascular coagulation and compartment syndrome to the left lower extremity. He was treated with high doses of intravenous antibiotics, above the knee amputation and multiple necrosectomy but died after 51 days due to multi organ failure.We believe that a rare combination of infection causing severe toxic shock syndrome leading to disseminated intravascular coagulation that then caused atraumatic compartment syndrome was responsible for this condition. Keywords: Staphylococcal toxic shock syndrome, Disseminated intravascular coagulopathy, Compartment syndrom

    Carcinoma medular de tireóide: estudo de 15 casos

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    Trabalho de Conclusão de Curso - Universidade Federal de Santa Catarina. Curso de Medicina. Departamento de Clínica Médica

    A De Novo Mutation In Cyp21a2 Gene In A Case Of In Vitro Fertilization

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    Congenital adrenal hyperplasia, one of the most frequent autosome recessive disorders, is caused by defects in steroidogenic enzymes involved in the cortisol biosynthesis. Approximately 95% of the cases are caused by abnormal function of the 21-hydroxylase enzyme. This deficiency leads to androgen excess, consequently, to virilization and rapid somatic growth with accelerated skeletal maturation. Mutations in CYP21A2 are responsible for different forms of 21-hydroxylase deficiency. Mild impairment in the enzymatic activity causes the non-classic or late-onset congenital adrenal hyperplasia that is observed with a prevalence of 1 in 1000 subjects in different populations. The present paper describes a de novo mutation that occurred in the paternal meiosis. The child, who was conceived by in vitro fertilization, presented with precocious puberty and diagnosed with non-classical 21-hydroxylase deficiency. DNA sequencing showed the compound heterozygosis for a de novo CYP21A1P/A2 chimeric gene and the p.Val281Leu mutation inherited from her mother, who was heterozygous for the mutation. The chimeric gene showed pseudogene-derived sequence from 5′-end to intron 3 and CYP21A2 sequences from intron 3 to 3′-end of the gene. Sequencing analysis of the father did not show any mutation. The multiplex ligation-dependent probe amplification (MLPA) assay did not indicate loss of DNA discarding gene deletion but confirmed the chimeric gene. In addition, supernumerary copies of CYP21A1P were observed for both parents and for the affect child. Since paternity has been confirmed, those results suggest that a de novo large gene conversion in the paternal meiosis could have occurred by misalignment of alleles bearing different copy numbers of genes in CYP21 locus. © 2015 The Authors. Published by Elsevier Inc.598102Nimkarn, S., New, M.I., 21-Hydroxylase-deficient congenital adrenal hyperplasia (2013) Gene Reviews®[Internet], , (Last Update: August 29)Nimkarn, S., Lin-Su, K., New, M.I., Steroid 21-hydroxylase deficiency congenital adrenal hyperplasia (2011) Pediatr. Clin. N. Am., 58, pp. 1281-1300White, P.C., Speiser, P.W., Congenital adrenal hyperplasia due to 21-hydroxylase deficiency (2000) Endocr. Rev., 21, pp. 245-291Kamrath, C., Hartmann, M.F., Wudy, S.A., Androgen synthesis in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency (2013) Horm. Metab. Res., 45, pp. 86-91Miller, W.L., Congenital adrenal hyperplasias (1991) Endocrinol. Metab. Clin. N. Am., 20, pp. 721-740Lin-Su, K., Nimkarn, S., New, M.I., Congenital adrenal hyperplasia in adolescents: Diagnosis and management (2008) Ann. N. Y. Acad. Sci., 1135, pp. 95-98Witchel, S.F., Non-classic congenital adrenal hyperplasia (2013) Steroids, 78, pp. 747-750Trakakis, E., Basios, G., Trompoukis, P., Labos, G., Grammatikakis, I., Kassanos, D., An update to 21-hydroxylase deficient congenital adrenal hyperplasia (2009) Gynecol. Endocrinol., 3, pp. 1-9Wedell, A., Molecular genetics of 21-hydroxylase deficiency (2011) Endocr. Dev., 20, pp. 80-87White, P.C., Grossberger, D., Onufer, B.J., Two genes encoding steroid 21-hydroxylase are located near the genes encoding the fourth component of complement in man (1985) Proc. Natl. Acad. Sci. U. S. A., 82, pp. 1089-1093Haglund-Stengler, B., Martin Ritzen, E., Gustafsson, J., Luthman, H., Haplotypes of the steroid 21-hydroxylase gene region encoding mild steroid 21-hydroxylase deficiency (1991) Proc. Natl. Acad. Sci. U. S. 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    Shift work: An occupational health and safety hazard

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    Shift work is a major feature of modern work practices. It involves individuals working at times considered unconventional for most workers, such as at night. Although the community often benefits from such work practices, shift work can be hazardous, for both the workers and the community. The thesis reviews the main problems of shift work, especially when involving night work. These are: an increased risk for accidents and errors; increased sleepiness and fatigue due to difficulties sleeping; increased health problems; and disruption to family and social life. Strategies to limit the risk associated with these hazards are also reviewed, and include using knowledge of circadian principles to plan shift schedules, sleeping schedules and meal times; planned napping; consideration of the work environment; and newer techniques such as using bright lights and melatonin. While this information is known to the research community, it has not filtered down to many shift work workplaces and thus has had little if any positive effect on actual shift work practices. For a change in shift work practices to occur, the research knowledge must become available to every shift work workplace, as must some incentive or motivation to ensure that workplaces make the necessary changes. The Occupational Health and Safety (OHS) laws provide such a framework. Considering shift work as an OHS hazard would ensure that all shift work workplaces identified the hazards of shift work, conducted a risk assessment to identify the risk associated with the hazards, and then implemented the appropriate strategies, from the hierarchy of shift work hazard control measures, for both employers and employees, to fulfil their duty of care to minimise the risks. Considering shift work as an OHS issue would ensure that the research information was used as intended - to improve the safety, performance, and quality of life of all shift workers. The present thesis reviews the shift work research and introduces an OHS perspective as a method to manage shift work effectively
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