Lipoprotein lipase deficiency is a malfunkction of a key enzyme for lipoprotein metabolism. Lipoprotein lipase deficiency can cause serious episodes of pancreatitis. The deficiency is caused by pathology in the LPL gene. There are many variants in the LPL gene and quite a lot of them are pathogenic.The first gene therapy in Europe was licensed for the treatment of lipoprotein lipase deficienciency using a gain-of-function variant of the LPL gene. A pattern of examination was established to including MLPA, Light SNiP, quantitative real time PCR and sequencing in order to find pacients for the treatment. Three pacients suitable for the gene therapy Alipogene tiparvovec (AAV1-LPL S447X) were found amongst a group of patients with history of pancreatitis.

After introducing the concept of multiple monitors, which is a computer system with a physically partitioned but virtually contiguous display space (a single computer with many monitors attached), we discuss open Human-Computer Interaction multiple-monitor research areas including window management. We argue to conduct a high-level study of window management practices and a low-level study specifically comparing single-monitor and multiple-monitor window management practices. When combined with other field work on multiple monitors, the studies suggest that there is an increasingly crucial distinction between input focus (where the active window is) and user focus (where the user is actually looking on-screen) since multiple monitors encourage users to display reference information in non-active windows to aid interaction in the active window. To further explore this distinction we constructed three tools: Snip; Snap; and Mudibo. We deployed Snip and Snap in a field study, finding that participants used Snip in many of the ways that we expected though Snap did not appear to be as useful. Results from our follow-up laboratory-based study indicated that Snip can provide multiple-monitor users with dramatic time savings for referencing the snipped windows as compared to regular, overlapping windows. A laboratory-based study of Mudibo, a dialog box placement interface, provided further motivation of the tool and uncovered key interface improvements necessary to make Mudibo suitable for everyday multiple-monitor screen interaction. The findings support the original conclusion about the initial field work, namely that understanding the potentially larger gap between input focus and user focus necessitates appropriately targeted user interface development and evaluation.

Made available in DSpace on 2014-12-17T15:16:09Z (GMT). No. of bitstreams: 1 PalommaRSA_DISSERT.pdf: 871286 bytes, checksum: 4918cb8370bc81a4276c15ef2770900e (MD5) Previous issue date: 2010-05-19 / Universidade Federal do Rio Grande do Norte / The strength of respiratory muscle are frequently assessed by maximal inspiratory and expiratory pressure, however, the maneuvers to assess PImax and PEmax are difficult for many patients. The sniff nasal inspiratory pressure (SNIP) is a simple and noninvasive technique use to assess inspiratory muscles strength. Reference values have been previous established for SNIP in adults but no previous studies have provided reference values for SNIP in adult Brazilian population. The main objective of this study were propose reference values of SNIP for Brazilian population through establishment of relationship between anthropometric measurements, physical activity profile and SNIP and at the same time compare the values obtained with reference values previously published. We studied 117 subjects (59 male and 58 female) distributed in different age grouped 20-80 years old. The results showed on significant positive relationship between SNIP and height and negative correlation with age (p<0.05). In the multiple linear regression analysis only age continued to have an independent predictive role for the two dependent variables that correlated with SNIP. The values of SNIP found in Brazilian population were higher when compared with predict values of previous studies. The results of this study provide reference equations of SNIP for health Brazilian population from 20 to 80 years old / Os testes de avalia??o da fun??o muscular respirat?ria como as medidas de press?o respirat?ria m?xima (Press?o Inspirat?ria m?xima - PIm?x e Press?o Expirat?ria m?xima - PEm?x) s?o testes cl?ssicos de for?a muscular respirat?ria, por?m alguns indiv?duos podem expressar certa dificuldade para a execu??o dessas manobras. A Press?o Inspirat?ria Nasal Sniff (Sniff Nasal Inspiratory Pressure - Pnsn), por se tratar de uma t?cnica f?cil e n?o-invasiva, tem sido utilizada para avaliar a for?a muscular inspirat?ria. Alguns estudos determinaram valores de refer?ncia de Pnsn em adultos, por?m n?o h? relatos na popula??o brasileira. Os principais objetivos desse estudo foram propor equa??es de refer?ncia para Pnsn na popula??o brasileira para homens e mulheres, a partir da investiga??o da rela??o entre Pnsn e idade, peso, altura, ?ndice de Massa Corp?rea - IMC e padr?o de atividade f?sica habitual, bem como avaliar a Pnsn numa amostra de volunt?rios saud?veis e comparar com os valores preditos em outras popula??es. A amostra foi composta de 117 indiv?duos (59 homens e 58 mulheres), estratificados em grupos et?rios entre 20-80 anos. Os resultados evidenciaram valores significativamente maiores da Pnsn com o aumento da altura e significativamente menores com o aumento da idade (p<0,05). Ao analisar as equa??es de regress?o linear m?ltipla, apenas a idade permaneceu exercendo influ?ncia na predi??o da Pnsn e os valores obtidos de Pnsn foram superiores quando comparados aos valores preditos em outras popula??es adultas. Nesse contexto, sugere-se equa??es preditivas para Pnsn em indiv?duos brasileiros saud?veis na faixa et?ria entre 20 e 80 anos, com o intuito de minimizar discrep?ncias diagn?sticas ao comparar indiv?duos

International Telemetering Conference Proceedings / October 30-November 02, 1989 / Town & Country Hotel & Convention Center, San Diego, California / During the current decade, international cooperation in space projects has become more and more popular and this trend is increasing. Initially, this involved only single missions with agencies flying payloads on other agencies' spacecraft. Later, this trend continued with international ventures, involving different agencies. In the immediate future, even more challenging scenarios are foreseen. The best known example and prime driver for such sophisticated missions will be the Space Station Freedom and its participating partners' spacecraft. Some of the international missions (ESA missions) are described briefly in this paper, in order to set the scene for a better understanding of the complex needs for standards within advanced orbiting systems. These ventures call for efficient means for cooperation and interoperability. Part of these requirements can be met by following international standards for space communications and space data systems. The Consultative Committee for Space Data Systems (CCSDS) undertook the task of integrating the space data systems requirements and developing appropriate recommendations for data systems standards for these Advanced Orbiting Systems (AOS). All international partners in the Space Station Freedom Program participated in the definition, development, and review of the AOS recommendations. The need for better cooperation in space communications via data relay satellite prompted the formation of a three party international panel called the Space Network Interoperability Panel (SNIP). An important aspect is the need for verification and validation of the concept and of the detailed technical recommendations. For the immediate future, special compatibility campaigns, involving the international agencies are planned in order to ensure the smooth application and functioning of the AOS recommendations.

100f. / Submitted by Suelen Reis (suziy.ellen@gmail.com) on 2013-04-05T14:44:32Z No. of bitstreams: 2 Rossanaglovatskiguimaraespt2seg.pdf: 4850365 bytes, checksum: 4581f2bced86a36e9d2c830fd887fd28 (MD5) Rossanaglovatskiguimaraespt1seg.pdf: 3052117 bytes, checksum: 8fabb6a2771c68050e4debf48149fe3b (MD5) / Approved for entry into archive by Lêda Costa(lmrcosta@ufba.br) on 2013-04-18T12:26:48Z (GMT) No. of bitstreams: 2 Rossanaglovatskiguimaraespt2seg.pdf: 4850365 bytes, checksum: 4581f2bced86a36e9d2c830fd887fd28 (MD5) Rossanaglovatskiguimaraespt1seg.pdf: 3052117 bytes, checksum: 8fabb6a2771c68050e4debf48149fe3b (MD5) / Made available in DSpace on 2013-04-18T12:26:48Z (GMT). No. of bitstreams: 2 Rossanaglovatskiguimaraespt2seg.pdf: 4850365 bytes, checksum: 4581f2bced86a36e9d2c830fd887fd28 (MD5) Rossanaglovatskiguimaraespt1seg.pdf: 3052117 bytes, checksum: 8fabb6a2771c68050e4debf48149fe3b (MD5) Previous issue date: 2011 / Esta pesquisa tem como objetivo relacionar cadernos de anotações e trabalho à gênese de obras artísticas. Usados para anotar ideias, ensaios, estudos e esboços como possíveis referências para obras futuras, os cadernos são considerados como documentos de processo e auxiliam na compreensão do processo criativo do artista. Utilizei os registros de um caderno em particular, criado especialmente para este trabalho: Relatos de Viagens - Um Imaginário Desenhante. Foi usada a metodologia informativa e autobiográfica e trabalhos práticos foram desenvolvidos em ateliê, a partir das imagens colhidas neste caderno. Um dos autores presentes nesta pesquisa é Bachelard, com o qual foi possível dialogar através do conceito de devaneio poético proposto por ele. Também foram buscados diálogos com Ângela Grando, José Cirillo e Cecília Almeida Salles como possibilidade de se desvelar o processo criativo. A produção artística resultante, paralela às reflexões conceituais presentes nesta dissertação, foi apresentada no Museu de Arte Contemporânea do Paraná (MAC) no período de 10 de agosto a 23 de outubro de 2011. / Salvador/ Curitiba

La sclérose latérale amyotrophique (SLA) est une maladie neurodégénérative. Une insuffisance diaphragmatique apparaît quand les neurones phréniques sont atteints. La ventilation non-invasive (VNI) est un traitement efficace. Une hyperactivité des muscles inspiratoires extradiaphragmatiques (MIED) est fréquente. C'est un phénomène compensateur vital pour assurer une ventilation correcte mais ses conséquences extraventilatoires restent inconnues. La VNI, mettant au repos les MIED, pourrait avoir d'autres effets bénéfiques que la correction des échanges gazeux. Dans la partie 1, la dépense énergétique (DE) diminue de 7% sous VNI. Dans la partie 2, les tests d'endurance (VMM et PiMAX répétés) ne sont pas adaptés aux patients SLA avec faiblesse diaphragmatique. Une série de 10 SNIP est réussie par 90% d'eux. La réalisation de SNIP répétés suffit à induire une fatigue aux caractéristiques évocatrices de fatigue centrale : la pression chute alors que la vitesse de relaxation normalisée est conservée. La fatigue n'est pas corrélée à la sévérité de la SLA ou à l'utilisation de la VNI. Dans la partie 3, 57% des patients SLA ont un potentiel préinspiratoire (PPI) en ventilation spontanée (VS), réponse corticale au déséquilibre charge-capacité. L'activité corticale préinspiratoire influence l'activité des MIED et la perception de la dyspnée. La VNI inhibe quasi-complètement le PPI. La VNI réduit la DE en soulageant le travail respiratoire imposé aux MIED pour compenser la faiblesse diaphragmatique. Cette contribution métabolique plaide en faveur d'une initiation précoce de la VNI. Juger du moment pour initier la VNI est délicat. La présence d’un PPI en VS peut guider la décision. / Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease. Respiratory failure (RF) develops when phrenic neurons are involved. Noninvasive ventilation (NIV) is the only treatment for diaphragm weakness. Patients with ALS-related RF often exhibit strong activity of inspiratory neck muscles (INM) as a compensatory mechanism to maintain adequate ventilation.In chapter 1 of thesis, resting energy expenditure (REE) is lower under NIV (median decrease of 7%). Chapter 2 confirms that standard tests to measure respiratory muscle endurance (maximal voluntary ventilation and repeated maximal inspiratory pressures) are not adapted to ALS patients with diaphragm involvement while 90 % of them complete a series of 10 maximal sniff pressures (SNIP). This test is sufficient to initiate fatigue in ALS patients with a progressive decrease in sniff amplitude and preserved maximal relaxation rate. These results suggest that central fatigue contribute to RF in ALS. Different tests of respiratory muscle endurance were not linked to ALS severity or NIV use. Chapter 3 shows that 57 % of ALS patients with RF exhibit respiratory-related cortical activity during spontaneous breathing. Pre-inspiratory potentials (PIP) almost disappear on NIV. Presence of PIP interferes with dyspnea and INM activity.NIV can reduce REE probably by alleviating the ventilator burden imposed on INM to compensate ALS-related RF. This positive contribution to a better nutritional equilibrium supports the hypothesis that starting NIV early in the course of ALS could be beneficial. To determine the good timing to initiate NIV stay difficult. Recording PIP could provide a useful tool.