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1

Råberg, Knut Sigurd. "Nyhavna arkivbibliotek." Thesis, Norges teknisk-naturvitenskapelige universitet, Fakultet for arkitektur og billedkunst, 2014. http://urn.kb.se/resolve?urn=urn:nbn:no:ntnu:diva-26690.

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Sætre, Marie, and Line Myrenget. "Å skifte status : trosnøytralt seremonibygg på Nyhavna." Thesis, Norges teknisk-naturvitenskapelige universitet, Fakultet for arkitektur og billedkunst, 2012. http://urn.kb.se/resolve?urn=urn:nbn:no:ntnu:diva-17648.

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3

Lorenz, Veronika. "Komplexe Veränderungen in der Genexpression der Ecto-Nukleosid-5-Triphosphat-Diphosphohydrolase bei Hypoxanthin-Phosphoribosyltransferase-Defizienz." kostenfrei, 2008. http://www.opus-bayern.de/uni-regensburg/volltexte/2009/1207/.

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4

Galloon, Terry. "Biochemical and genetic properties of HPRT Cape Town." Master's thesis, University of Cape Town, 1987. http://hdl.handle.net/11427/26591.

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An unusual partial HPRT deficient mutant, HPRT Cape Town was observed to have a low activity in erythrocyte lysates at high concentrations of the purine substrates, hypoxanthine and guanine. This substrate inhibition was not observed with the substrate PPRP. The low activity was not associated with changes in the Km or Vmax for any of the substrates (Steyn and Harley, 1984). The kinetics of the proband's enzyme was studied in lymphoblast extracts. The characteristic substrate inhibition was observed which showed that this phenomenon was not confined to erythrocytes but was a more generalized p
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5

Boyd, Marie. "Evaluation of screening strategies for the detection of molecular pathologies." Thesis, University of Glasgow, 1995. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.295318.

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6

Heshka, Timothy William. "Effects of hypoxanthine upon dopamine neurons : an animal model for Lesch-Nyhan disease." Thesis, McGill University, 1989. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=59392.

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In Lesch-Nyhan disease, concentrations of hypoxanthine are elevated especially in the brain and cerebrospinal fluid; dopamine and its metabolites are reduced in the caudate and putamen. Hence we investigated the possibility that hypoxanthine has direct effects on dopamine neurons.<br>Hypoxanthine, adenine or allopurinol was delivered unilaterally into the rat brain. Behavioural effects were monitored by apomorphine-induced rotation; ipsilateral turning was time and dose-dependent. Turning was competitively blocked by a non-specific DA antagonist, suggesting that dopamine neurons were altered.
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7

Bavaresco, Caren Serra. "Efeito in vitro das substâncias acumuladas na doença de Lesch-Nyhan sobre a atividade da Na+,K+-ATPase em estriado de ratos." reponame:Biblioteca Digital de Teses e Dissertações da UFRGS, 2004. http://hdl.handle.net/10183/5764.

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A doença de Lesch-Nyhan é um erro inato do metabolismo das purinas caracterizado pela deficiência na enzima hipoxantina- guanina fosforibosiltransferase. O bloqueio dessa reação resulta no acúmulo tecidual de hipoxantina, xantina e ácido úrico. A doença caracteriza-se por hiperuricemia, variado grau de retardo mental e motor, espasticidade e auto-mutilação. No sistema nervoso central, a Na+, K+ - ATPase é responsável pela manutenção da homeostase dos íons Na+ e K+, regulando o volume celular, a excitabilidade neuronal, o transporte de neurotransmissores e outras moléculas. Evidências na litera
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8

Ruillier, Valentin. "Utilisation des cellules souches pluripotentes pour le criblage à haut débit de molécules thérapeutiques dans la maladie de Lesch-Nyhan." Thesis, Université Paris-Saclay (ComUE), 2019. http://www.theses.fr/2019SACLE011/document.

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Les mutations affectant la fonction d'enzymes impliquées dans le cycle des purines sont responsables d'une multitude de syndromes pédiatriques, caractérisés par des atteintes neurologiques et comportementales. A ce jour, aucune stratégie thérapeutique n'a été réellement efficace pour contrôler ces symptômes. La maladie de Lesch-Nyhan (MLN), associée à la perte de fonction de l'enzyme de recyclage HGPRT, constitue un bon modèle d'étude. Mon travail a consisté à utiliser la technologie des cellules souches induites à la pluripotence, reprogrammées à partir de fibroblastes de patients atteints de
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9

Petitgas, Céline. "Etude des mécanismes pathogéniques de la maladie de Lesch-Nyhan en relation avec le système dopaminergique chez un organisme modèle, Drosophila melanogaster." Thesis, Paris Sciences et Lettres (ComUE), 2019. http://www.theses.fr/2019PSLET049.

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L’adénine phosphoribosyltransférase (APRT) et l’hypoxanthine-guanine phosphoribosyltransférase (HGPRT) sont deux enzymes majeures impliquées dans le recyclage des purines chez les Mammifères, une voie métabolique essentielle permettant la récupération des bases puriques dérivées de l’alimentation ou de la dégradation des nucléotides. La voie de sauvetage des purines est en effet moins coûteuse en énergie que la voie de synthèse de novo et son dysfonctionnement induit diverses pathologies. En particulier, des mutations héréditaires supprimant l’activité de l’HGPRT sont associées à la maladie de
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10

Bavaresco, Caren Serra. "Alterações bioquímicas e comportamentais em ratos submetidos à administração intra-estriatal de hipoxantina." reponame:Biblioteca Digital de Teses e Dissertações da UFRGS, 2008. http://hdl.handle.net/10183/13329.

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A síndrome de Lesch Nyhan é um erro inato do metabolismo das purinas, de característica recessiva, ligado ao sexo. Caracteriza-se, bioquimicamente, pela deficiência na atividade da enzima hipoxantina-guanina fosforribosiltransferase (HGPRT), resultando principalmente no acúmulo tecidual de hipoxantina. O quadro clínico manifestado é bastante característico incluindo alterações motoras e cognitivas, retardo mental, espasticidade e automutilação. Considerando que os mecanismos envolvidos nas alterações cerebrais encontradas nessa síndrome ainda são pouco conhecidos, os objetivos do presente estu
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11

Julita, Emeline. "Modélisation de la dysfonction des neurones dopaminergiques associée à la maladie de Lesch-Nyhan à l'aide des cellules souches induites à la pluripotence." Thesis, Université Paris-Saclay (ComUE), 2016. http://www.theses.fr/2016SACLE047.

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La maladie de Lesch-Nyhan (MLN) est une maladie rare dont la prévalence est estimée à une naissance sur 380 000. Il s’agit d’une maladie métabolique d’origine génétique liée au chromosome X, impliquant le gène de la HGPRT (hypoxanthine-guanine-phosphoribosyl-transférase). Les mutations dans ce gène entrainent un déficit d’activité de l’enzyme qui joue un rôle central dans le métabolisme des purines. Cette baisse d’activité provoque un défaut de fonctionnement de la voie de recyclage des purines induisant l’accumulation d’acide urique dans les articulations (goutte) et les reins (lithiase) qui
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12

Marques, Catarina Sofia Ribeiro. "Oximetria tecidular em doentes com insuficiência cardíaca NYHA classe III/IV." Master's thesis, Universidade da Beira Interior, 2012. http://hdl.handle.net/10400.6/1223.

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Introdução: Este trabalho de investigação pretende testar se a oximetria tecidular detecta a insuficiência cardíaca avançada estável relativamente à população sem doença, se valores mais baixos de oximetria tecidular estarão associados à descompensação da insuficiência cardíaca avançada e se é possível estimar um cut-off de oximetria tecidular abaixo do qual haja previsão de doença. Pretende avaliar se existe alguma correlação entre a oxigenação tecidual e os tipos de Insuficiência Cardíaca. Métodos: De 14 de Novembro de 2011 a 24 de Dezembro de 2011 mediu-se a saturação em oxigénio da hemogl
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13

CASTELLI, ALESSANDRA. "CORRECTION OF AN X-LINKED GENETIC DEFECT BY MICROCELL-MEDIATED CHROMOSOME TRANSFER." Doctoral thesis, Università degli Studi di Milano, 2014. http://hdl.handle.net/2434/229559.

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Several approaches to the correction of genetic defects have been investigated in the last two decades, including those based on retroviral and lentiviral vectors. Although viral vectors are a powerful instrument for gene therapy and are being used in human trials, they present drawbacks such as risk of insertional mutagenesis and limited insert size. Homologous recombination techniques, which has long been applied to mouse stem cell engineering, have recently been used in combination with novel tools exploited the activity of nucleases coupled to targeting methods such those based on zinc fin
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14

Brendler, Helena Biasibetti. "Administração intraestriatal de hipoxantina altera perfil inflamatório e neuroenergético via estresse oxidativo em estriado de ratos." reponame:Biblioteca Digital de Teses e Dissertações da UFRGS, 2017. http://hdl.handle.net/10183/159510.

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A hipoxantina, principal oxipurina envolvida na via de salvação das purinas no cérebro, acumula-se na doença de Lesch-Nyhan, um erro inato do metabolismo das purinas. Os sintomas clínicos manifestam-se precocemente na vida dos pacientes, incluindo alterações motoras e cognitivas, retardo mental e automutilação. Embora os mecanismos subjacentes da disfunção cerebral na doença de Lesch-Nyhan sejam pouco compreendidos, o acúmulo de hipoxantina parece contribuir para os danos neurológicos. O objetivo deste estudo foi investigar os efeitos da administração intraestriatal de hipoxantina em ratos inf
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15

Carlsson, Eric, and Kristoffer Falstad. "Patienters vardagliga upplevelse av att leva med kronisk hjärtsvikt : En litteraturöversikt." Thesis, Hälsohögskolan, Högskolan i Jönköping, HHJ, Avd. för omvårdnad, 2017. http://urn.kb.se/resolve?urn=urn:nbn:se:hj:diva-35719.

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Bakgrund: Hjärtsvikt är vanligt förekommande, ca 26 miljoner i världen och 250 000 i Sverige lever med diagnosen. Hjärtsvikt är ett komplext tillstånd med påverkan på många olika delar av livet. Behandlingen för hjärtsvikt är även detta komplext och att se individens situation är viktigt för framgångsrik behandling. Syfte: Att beskriva patienters upplevelse av att leva med kronisk hjärtsvikt i vardagen. Metod: En litteraturöversikt med 13 kvalitativa artiklar inkluderade de har analyserats med Fribergs femstegsmodell. Resultat: Resultatet visar på hur patienter med hjärtsvikt upplever att dera
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16

Svensson, Helena, and Hilda Melander. "Fatigue i fem dimensioner : en enkätstudie om fatigue i relation till kön, NYHA-klass och EF-kategori hos personer med hjärtsvikt." Thesis, Sophiahemmet Högskola, 2020. http://urn.kb.se/resolve?urn=urn:nbn:se:shh:diva-3635.

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Antalet personer som lever med hjärtsvikt ökar. Fatigue är ett av de vanligaste symtomen vid hjärtsvikt och kan beskrivas som en överväldigande fysisk, kognitiv och känslomässig trötthet som inte kan lindras med normala återhämtningsmetoder. Trots att fatigue har stor negativ påverkan på livskvalitet och egenvård uppmärksammas det sällan i lika stor utsträckning som övriga symtom vid hjärtsvikt. För att sjuksköterskor ska kunna erbjuda personcentrerad omvårdnad till denna komplexa och växande patientgrupp krävs ökad kunskap om hur fatigue tar sig uttryck hos personer med hjärtsvikt. Syftet med
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17

Salman, Ali MD. "Depressive Symptoms, Quality of Life, and Vitamin Supplements in Ambulatory Heart Failure Patients." Case Western Reserve University School of Graduate Studies / OhioLINK, 2008. http://rave.ohiolink.edu/etdc/view?acc_num=case1212769869.

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18

Del, Rio Reina. "Quality of Life and Hospital Readmissions among Patients with NYHA Class III Heart Failure Following Implantation of Cardiomems(TM) Sensor| A Mixed Methods Study." Thesis, Sage Graduate School, 2018. http://pqdtopen.proquest.com/#viewpdf?dispub=10974669.

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<p> Heart failure is a disease with high morbidity and mortality in the U.S. and globally. There are about 5.7 million people in the U.S with heart failure, and about 10 million in Europe. The disease is present more frequently in patients over 65 years old. Data from the ongoing Framingham Heart Study has shown that the one-year mortality rate is 22% and the 5-year mortality rate is 42%. While there have been significant advancements in the care of patients with heart failure, there is still no cure. In addition, Medicare has estimated that the number one cause for hospital admissions in the
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19

Buck-Müller, Nina. "Einfluss des beta-Rezeptorantagonisten Nebivolol auf hämodynamische Parameter, Verträglichkeit und Lebensqualität bei Patienten mit chronischer Herzinsuffizienz der NYHA-Klasse II und III zur Basistherapie (Herzglykosid, ACE-Inhibitor, Diuretikum)." [S.l. : s.n.], 2002. http://www.bsz-bw.de/cgi-bin/xvms.cgi?SWB10236389.

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20

Lein, Fong-Ron, and 連峰榮. "The Effects of HPRT on Lesch-Nyhan Syndrome." Thesis, 1996. http://ndltd.ncl.edu.tw/handle/07650896623502684674.

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21

Hobman, Tom C. "Molecular studies in two unrelated Lesch-Nyhan Syndrome families." 1987. http://hdl.handle.net/1993/24438.

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Shao, Shiao-Wen, and 邵筱雯. "The illness representation mediate the relationship between NYHA functional classification and quality of life in heart failure patients." Thesis, 2018. http://ndltd.ncl.edu.tw/handle/53myy5.

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碩士<br>國立陽明大學<br>臨床暨社區護理研究所<br>106<br>Heart failure (HF) is the final common sign of all kinds of heart diseases, and the prevalence is continuously elevated followed by aging and medical progression. Along with the development of medical profession, the goal of treatments is no longer extending human lives, but alleviating symptoms and improving functions, thus enhancing the quality of life (QoL). There are more and more investigations for the QoL of people with HF, but in those researches studying the related factors of improving QoL, the effectiveness is still not good enough. Therefore, we
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23

Klein, Anne-Kathrin [Verfasser]. "Humane autologe intrakoronare Stammzelltransplantation zur Myokardregeneration bei dilatativer Kardiomyopathie (NYHA-Stadium II bis III) / vorgelegt von Anne-Kathrin Klein." 2010. http://d-nb.info/1010986678/34.

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Durstewitz, Kathleen. "Einfluss von typischen Komorbiditäten auf die Ausprägung der Symptomatik bei Herzinsuffizienz mit eingeschränkter und erhaltener linksventrikulärer Funktion." Doctoral thesis, 2012. http://hdl.handle.net/11858/00-1735-0000-000D-F02A-D.

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Cardoso, Bárbara de Pinho. "Clínicas de insuficiência cardíaca : indicações e resultados." Master's thesis, 2009. http://hdl.handle.net/10316/33594.

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Trabalho final do 6º ano médico com vista à atribuição do grau de mestre no âmbito do ciclo de estudos de mestrado integrado em medicina da Faculdade de Medicina de Coimbra.<br>A. Introdução: Numerosos estudos são unânimes ao demonstrar o impacto das Clínicas de insuficiência cardíaca na melhoria da qualidade de vida e estado funcional de doentes com insuficiência cardíaca grave, a par da redução das suas taxas de re-hospitalização e dos custos. B. Objectivos: Verificação, em duas Clínicas de insuficiência cardíaca portuguesas, do impacto positivo descrito na literatura internacional relat
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Hodapp, Antonia [Verfasser]. "Einfluss einer strukturierten, multimodalen, stationären Rehabilitations-Intervention auf NT-proBNP-Werte bei Patienten mit chronischer Herzinsuffizienz NYHA II-III : eine Multi-Center 6-Monats-Studie / vorgelegt von Antonia Hodapp geb. Schandelmeyer." 2009. http://d-nb.info/1003555195/34.

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Mušálková, Dita. "Molekulárně genetické a biochemické studie vybraných dědičných metabolických onemocnění, vývoj a aplikace nových metod." Doctoral thesis, 2016. http://www.nusl.cz/ntk/nusl-265169.

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Inherited metabolic disorders (IMD) form a diverse group of several hundred different diseases with a relatively high cumulative incidence (stated up to 1:600). They are associated with accumulation of the substrates and lack of the products in specific metabolic pathways, which is caused by deficiency of the enzyme or its activator, or dysfunction of the transport protein. However, the underlying cause is at the DNA level. The grounds for different phenotype manifestation in patients with the same genotype are often not known. During my work at the Institute of Inherited Metabolic Disorders,
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28

Buck-Müller, Nina [Verfasser]. "Einfluss des β-Rezeptorantagonisten [Beta-Rezeptorantagonisten] Nebivolol auf hämodynamische Parameter, Verträglichkeit und Lebensqualität bei Patienten mit chronischer Herzinsuffizienz der NYHA-Klasse II und III zur Basistherapie (Herzglykosid, ACE-Inhibitor, Diuretikum) / vorgelegt von Nina Buck-Müller". 2002. http://d-nb.info/965291502/34.

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29

Horduna, Irina. "La qualité de vie et la capacité fonctionnelle chez les patients atteints de fibrillation auriculaire et d'insuffisance cardiaque congestive." Thèse, 2011. http://hdl.handle.net/1866/6082.

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De déterminer si une stratégie de contrôle du rythme améliore la qualité de vie et / ou la capacité fonctionnelle par rapport à une stratégie de contrôle de la fréquence cardiaque chez les patients atteints de fibrillation auriculaire et d'insuffisance cardiaque congestive. Méthode: Pour évaluer la qualité de vie, le questionnaire SF-36 a été administré à l'inclusion et à 4 mois chez 749 patients de l’étude AF-CHF. Les paramètres de capacité fonctionnelle évalués ont été la classe fonctionnelle NYHA (1376 patients) et la distance de marche de six minutes (1099 patients). Résultats: Le type du
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