Dissertations / Theses on the topic 'Maladie de Farber'
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Denard, Jérôme. "Développement d'une approche de thérapie génique pour l'amyotrophie spinale avec épilepsie myoclonique progressive." Electronic Thesis or Diss., université Paris-Saclay, 2023. https://www.biblio.univ-evry.fr/theses/2023/interne/2023UPASL144.pdf.
Full textSpinal muscular atrophies are a heterogeneous group of disorders characterized by spinal cord α-motor neuron degeneration, leading muscle weakness and atrophy. The most common form is associated to mutations in the SMN1 gene, for which a gene therapy product obtained marketing approval. Another form of spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME), is due to mutations in the ASAH1 gene encoding a lysosomal enzyme,the acid ceramidase (ACDase). The life expectancy of patients with SMA-PME does not exceed adolescence. Some mutations in this same gene can cause Farber disease (FD), with the most severe forms causing death of patients before the age of 2 years due to severe multisystemic damage. SMA-PME and FD are ultra-rare lysosomal storage diseases. ACDase catalyzes the bioactive lipid ceramide into sphingosine and fatty acid. Due to the deficiency of enzyme activity, ceramides accumulate inside lysosomes causing serious dysfunctions in several organs. A therapeutic approach based on hematopoietic stem cell transplantation was previously tested in Farber patients but did not prevent neurological deterioration over time. The generation of mouse models of ACDase deficiency, in particular the Asah1P361R/P361R model that recapitulates the signs of Farber disease, has allowed a better understanding of the pathophysiology of acid ceramidase deficiency in tissues and the evaluation of different therapeutic approaches. Enzyme replacement therapy and gene therapy using a lentiviral vector extended the survival of mutant animals by several weeks, but did not correct the neurological signs of the disease. Since there is no curative treatment for patients, the main goal of my thesis project was to develop an efficacious gene therapy approach using an AAV vector. Intravenous administration of an AAV9-ASAH1 vector in Asah1P361R/P361R mice at pre- and symptomatic stages of the disease was able to prolong the lifespan and correct the phenotype. This approach provided proof of concept that generalized restoration of ASAH1 gene expression achieves a therapeutic effect in a severe mouse model of acid ceramidase deficiency. These results prompted us to perform a dose escalation study in Asah1P361R/P361R mice to determine the minimum effective dose of this vector. Three doses of AAV9-ASAH1 were administered intravenously in mutant mice at a late stage of the disease and the effect was analyzed at the clinical, molecular and histological level for a 6-month period. We identified a vector dose able to correct the phenotype and to avoid macrophage infiltrates in tissues, including the central nervous system. Intracerebroventricular administration (ICV) of the AAV9-ASAH1 vector in neonatal mutant mice was also evaluated to investigate the efficacy of this direct route of administration in correcting the neurological signs of the disease. The results show that systemic injection of the AAV9-ASAH1 vector was able to correct the whole-body phenotype of Asah1P361R/P361R mutant mice, whereas preliminary results indicate that ICV administration of the vector is efficacious in preventing mainly the neurological signs of the disease. This thesis work paves the way for clinical translation of this gene therapy in patients with Farber and SMA-PME diseases
Soname, S. O. O. "Effects of malaria on farmers' technical efficiency in Africa." Thesis, University of Reading, 2016. http://centaur.reading.ac.uk/66316/.
Full textROUX, CAIRE LAURENCE. "Diagnostic et traitement des maladies de l'articulation temporo-mandibulaire d'apres farrar et mc carthy." Aix-Marseille 2, 1988. http://www.theses.fr/1988AIX20264.
Full textMunthali, Grace Timanyechi. "Assessing farmers’ willingness-to-way for improved common bean seed varieties in Malawi : a case study of Kasungu and Dedza districts." Diss., University of Pretoria, 2013. http://hdl.handle.net/2263/40344.
Full textDissertation (MSc Agric)--University of Pretoria, 2013.
gm2014
Agricultural Economics, Extension and Rural Development
unrestricted
Musonzo, Charity Priscilla. "Malawi Farm Input Subsidy Programme - impact on income of smallholder farmers." Master's thesis, University of Cape Town, 2015. http://hdl.handle.net/11427/29044.
Full textCanz, Stefan. "Linking small scale farmers to markets : a multi-level analysis with special references to Malawi, Kenya and South Africa /." Weikersheim Margraf, 2005. http://deposit.ddb.de/cgi-bin/dokserv?id=2686372&prov=M&dok_var=1&dok_ext=htm.
Full textChiwona-Karltun, Linley. "A reason to be bitter : cassava classification from the farmers' perspective /." Stockholm : [Karolinska institutets bibl.], 2001. http://diss.kib.ki.se/2001/91-7349-078-4/.
Full textMwangwela, Dennis Lusekelo. "Towards appropriate institutional linkage structures for effective participatory and coordinated agricultural extension in Malawi." Diss., Pretoria : [s.n.], 2006. http://upetd.up.ac.za/thesis/available/etd-07032007-094422.
Full textMazzone, Angelica <1992>. "New advances in molecular epidemiology of emerging enteric parasites in farmed gilthead sea bream (Sparus aurata) and insights into zoonotic parasites of new relevance in Italian freshwater fish." Doctoral thesis, Alma Mater Studiorum - Università di Bologna, 2021. http://amsdottorato.unibo.it/9665/1/angelica_mazzone_tesi.pdf.
Full textVuong, Thao Thi Phuong. "Farmers' perceptions of the "Unleashing the Power of Cassava in Africa in Response to the Food Crisis" (UPoCA) project : Experiences from Malawi." Thesis, Uppsala universitet, Institutionen för geovetenskaper, 2012. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-171455.
Full textQuinion, Ann Farrington. "Contribution of soil fertility replenishment agroforestry technologies to the livelihoods and food security of smallholder farmers in central and southern Malawi." Thesis, Link to the online version, 2008. http://hdl.handle.net/10019/1983.
Full textPfister, Hugo. "Caractérisation des expositions professionnelles des éleveurs laitiers bretons : déterminants professionnels de l’exposition à la fraction thoracique des bioaérosols, à l’ammoniac et à l’acétaldéhyde, et effets inflammatoires des poussières organiques." Thesis, Rennes 1, 2017. http://www.theses.fr/2017REN1B046/document.
Full textDairy farmers have an increased risk of lower airway diseases that is likely related to occupational exposures to airborne contaminants. Nevertheless, occupational determinants of dairy farmers’ exposures remain poorly documented and the biological effects of the contaminants chronically inhaled by farmers need to be fully characterized. In this context, the objectives of this PhD thesis were i) to identify the occupational determinants of exposure to thoracic bio-aerosols (organic dusts, endotoxins, bacteria and moulds), ammonia and acetaldehyde, and ii) to characterize the pro-inflammatory effects of thoracic dusts emitted during the mechanical spreading of straw bedding, a task well-known to generate inhalable dusts. To achieve these goals, we carried out a 112-repeated exposure measurement campaign on 29 dairy farms located in Britany. Using multivariate mixed-effect regression models, we have demonstrated that farmers’ exposures to bio-aerosols were mainly induced by tasks related to bedding material distribution and cow feeding (straw, hay, silage). Exposure levels to ammonia were highly dependent on cow numbers and times spent by the farmers in stable and milking parlour. Acetaldehyde exposure was modulated according to the farm size and times spent to distribute silage. Our work also highlighted that an increase of the area of wall opening significantly reduced exposure to mould, acetaldehyde and ammonia. Finally, our study showed that dusts emitted during mechanical straw spreading have (1) a size small enough to allow them to deposit in the tracheobronchial regions, (2) a complex bacterial and fungal composition, and (3) strong in vitro pro-inflammatory effects that induced TNF-α, IL-1β, IL-6 and IL-8 expression in human macrophages. In conclusion, these results have identified different dairy farm characteristics and occupational tasks that significantly increased the exposure levels to chemical contaminants and thoracic organic dusts. Statistical models built during this research project already allow reconstitution of dairy farmers’ exposure that may of use in future epidemiological studies and to develop new preventive measures
Truong, Dinh bao. "Participatory methods in surveillance and control of foot-and-mouth disease : how to better involve the farmers at local scale ?" Thesis, Toulouse, INPT, 2017. http://www.theses.fr/2017INPT0056/document.
Full textThis PhD thesis aimed at evaluating the contribution of participatory epidemiology (PE) to improve the foot-and-mouth disease (FMD) surveillance and control activities, especially the involvement of farmers at local level. The first objective aimed at assessing the effectiveness of the FMD surveillance and vaccination strategy at local level by using PE approach. The second objective aimed at assessing the feasibility of applying PE tools to improve the involvement of farmers in the FMD surveillance in Vietnam. PE methods performed in our study included informal interviews (focus group and individual), scoring tools (pairwise ranking, proportional pilling, disease impact matrix scoring and disease signs matrix scoring), visualization tools (mapping, timeline, flow chart) and sociological tools called Q methodology. 122 focus groups, 467 individual interviews, 339 questionnaire surveys were performed during two field studies in 2014 and 2015. 409 sera and 152 probang samples were taken. Conventional questionnaire surveys, Bayesian modelling and laboratory test (ELISA and rtRT-PCR) was used to validate the performance of PE in FMD surveillance. Disease was considered as the most important issues in animal production. FMD was the most important disease for dairy cattle production, followed by haemorrhagic septicaemia. For beef cattle production, it was recorded in reverse order. The most important disease for pig production was porcine reproductive and respiratory syndrome while FMD was ranked fourth. Farmers showed their abilities in differential diagnostic of important diseases based on its clinical symptoms. Sero-prevalence of FMD were estimated at 23% for population 1 (bordering with Cambodia) and 31% for population 2 (locating far from the border), respectively. Sensitivity and Specificity of PE were found to be 59% and 81%, respectively. The positive and negative predictive value were found to be 48% and 86% for population 1 and 58% and 81% for population 2, respectively. The presence of serotype A, lineage A/Asia/Sea-97 and serotype O with two separate lineages, O/ME-SA/PanAsia and O/SEA/Mya-98 supported virus circulation through trans-boundary animal movement activities. Dairy farms frequently applied quarantine, disinfection and vaccination as prevention methods. Beef farms preferred cleanliness and good husbandry management practices. Pig farms considered that all prevention methods had the same importance. Three distinct discourses “Believe”, “Confidence”, “Challenge”, representing common perceptions among farmers and accounting for 57.3 % of the variance, were identified based on Q methodology. Farmers take vaccination decisions themselves without being influenced by other stakeholders and feel more secure after FMD vaccination campaigns. However, part of the studied population did not consider vaccination to be the first choice of prevention strategy. The benefitcost ratio of FMD vaccination for dairy cow production in large-scale and in small-scale and meat cattle production were 37.2, 30.0 and 7.3, respectively. The sensibility analysis showed that FMD vaccination was profitable for all of production types even through the increase of vaccine cost and decrease of market price of milk and slaughter cattle. From the focus groups organized at sentinel villages, 18 new villages were identified as potentially infected by FMD. 77 suspected animals were confirmed positive for FMD, with viral serotypes O and A. Sensitivity and specificity of participatory surveillance were recorded at 0.75 and 0.65, respectively. The effectiveness of PE in FMD surveillance system to detect outbreak in Vietnam was demonstrated. It was demonstrated that vaccination was the most effective and economic method to prevent FMD. Through the application of simple, adaptive tools which facilitate direct and active participation of farmers, PE allowed to reach a better acceptability of surveillance and to obtain qualified information
Chylinski, Caroline. "Qu'est ce qui fait le succès des nématodes gastro-intestinaux chez leur hôte ? : Etude du rôle des nématodes, des moutons et des éleveurs." Thesis, Tours, 2014. http://www.theses.fr/2014TOUR4028/document.
Full textThe success of gastrointestinal nematodes in their sheep hosts is so extensive that they present one of the leading threats to ruminant health and production throughout the globe. This thesis research identified three key factors which influence their success including the gastrointestinal nematode biology, the sheep host protective response and the farmers control decisions. Using Haemonchus contortus as a model species, we demonstrated that the success of GIN biology is aided by their capacity to overcome numerous selective pressures that target both parasitic and free-living stages in their life cycle. This was achieved by amplifying life-history traits following challenge to recoup any costs in survival and reproduction. In turn, high levels of fitness were maintained and they remained stable in the face of numerous selective pressures. Sheep have the capacity to exert almost perfect control over GIN success by blocking their life cycle through via protective responses
Dandachi, Iman. "Multi drug resistant organisms in Lebanese livestock." Thesis, Aix-Marseille, 2018. http://www.theses.fr/2018AIXM0286/document.
Full textNowadays, the epidemiology of multi-drug resistance has changed and is no more confined to the hospital settings. Food producing animals are increasingly regarded as potent reservoirs of multi-drug resistant organisms i.e. beta lactamase producers and colistin-resistant Gram-negative bacilli. The emergence of multi-drug resistance in animals is thought to be mainly driven by the overuse of antibiotics as growth promoters and prophylaxis. The dissemination of resistant organisms in animals is sparked by the concern of being transferred to humans where they can be candidates for infections with limited therapeutic options. The zoonotic transmission of resistant organisms from animals to humans occurs mainly via direct/indirect contact but also via environmental routes. In Lebanon, several studies were conducted in hospitals and showed a high prevalence of multi-drug resistance; unlikely, these studies are scarce in animals. The aim of this thesis research was thus to describe the epidemiology of multi-drug resistant organisms in Lebanese Livestock Multi-locus sequence typing and whole genome sequencing were used to describe the prevalence of multi-drug resistant organisms and the corresponding mechanisms of resistance in the isolated strains from chicken, pigs, farmers and environment. Chicken and swine farms showed to be potent reservoirs of ESBL and mcr-1 genes in Lebanon. The dissemination of multi-drug resistance appears to be multi-clonal and related to the spread of plasmid carrying resistance genes. Colistin use in veterinary medicine in Lebanon should be banned
Cipolla, M. "ONE COMMUNICATION AND ONE HEALTH: COMMUNICATION IN VETERINARY MEDICINE TO IMPROVE HUMAN HEALTH." Doctoral thesis, Università degli Studi di Milano, 2014. http://hdl.handle.net/2434/232569.
Full textKambauwa, Gertrude J. "A policy implementation analysis of soil conservation practices by shallholder farmers in the Blantyre agricultural development division of Malawi." Thesis, 2003. http://hdl.handle.net/10413/4165.
Full textThesis (M.Sc.)-University of Natal, Durban, 2003.
Nakhumwa, T. O. (Teddie Oliver). "Dynamic costs of soil degradation and determinants of adoption of soil conservation technologies by smallholder farmers in Malawi." Thesis, 2004. http://hdl.handle.net/2263/25032.
Full textThesis (PhD (Agricultural Economics))--University of Pretoria, 2006.
Agricultural Economics, Extension and Rural Development
unrestricted
"A case study of the impact of irrigation on household food security in two villages in Chingale, Malawi." Thesis, 2008. http://hdl.handle.net/10413/737.
Full textThesis (M.Sc..)-University of KwaZulu-Natal, Pietermaritzburg, 2008.
Serajuddin, Umar. "The influence of neighbors in technology adoption: evidence from farmers in Pakistan and Malawi." Thesis, 2006. http://hdl.handle.net/2152/2643.
Full textMzengeza, Tenyson. "Genetic studies of grain and morphological traits in early generation crosses of Malawi rice (Oryza sativa L.) Landraces and NERICA varieties." Thesis, 2010. http://hdl.handle.net/10413/728.
Full textThesis (Ph.D.)-University of KwaZulu-Natal, Pietermaritzburg, 2010.
Thesis (Ph.D.)-University of KwaZulu-Natal, Pietermaritzburg, 2010.
Chideya-Phiri, Grace. "The diversity of smallholder farmers and their adoption of the sustainable intensification practices in Malawi." Thesis, 2018. http://hdl.handle.net/1959.7/uws:46684.
Full textKoppmair, Stefan. "Determinants and livelihood impacts of natural resource management strategies among smallholder farmers in Malawi." Doctoral thesis, 2016. http://hdl.handle.net/11858/00-1735-0000-0028-8765-0.
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