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Artigos de revistas sobre o assunto "Maladie de Hurler"

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Imessaoudene, Belaid, Sihem Hallal, Meriem Amina Ghouali e Arezki Berhoune. "La maladie de Hurler: à propos de 30 cas". Revue Francophone des Laboratoires 2011, n.º 436 (novembro de 2011): 73–76. http://dx.doi.org/10.1016/s1773-035x(11)71159-5.

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Dreyfus, JC. "La maladie de Hurler (mucopolysaccharidose type I MPSI). Mutations et polymorphismes." médecine/sciences 9, n.º 11 (1993): 1289. http://dx.doi.org/10.4267/10608/2855.

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Bensaadi, N., A. Tariket, A. Benani, S. Idir, A. Hamzaoui e S. Chalah. "SFP P-053 – Maladie de Hurler a révélation anténatale : ascite isolée." Archives de Pédiatrie 21, n.º 5 (maio de 2014): 763. http://dx.doi.org/10.1016/s0929-693x(14)72023-8.

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Naoufel, B. "Dysostose multiple au cours de la maladie de Hurler à propos 03 cas". La Revue de Médecine Interne 43 (dezembro de 2022): A468. http://dx.doi.org/10.1016/j.revmed.2022.10.219.

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Boulemani, N. "Dysostose multiple au cours de la maladie de Hurler à propos 03 cas". Revue du Rhumatisme 89 (dezembro de 2022): A243—A244. http://dx.doi.org/10.1016/j.rhum.2022.10.381.

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Chabannes, JP. "La psychiatric française et les lois . La loi de décembre 1988 dite « Huriet» relative à la protection des personnes se prêtant à la recherche biomédicale". European Psychiatry 9, S2 (1994): 47–48. http://dx.doi.org/10.1017/s092493380000434x.

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RésuméLa loi française du 20 décembre 1988, dont le rapporteurétait le docteur Huriet, sénateur, a redéfini le cadre législatif des essais biomédicaux. Son objet, plus que de garantir la qualité scientifique d’un travail de recherche, vise à protéger les personnes - saines ou malades-qui seraient sollicitées pour participer à de tels essais. Venant se surajouter aux Bonnes Pratiques Cliniques et aux Directives Européennes qui encadrent la recherche clinique, l’application pratique de la loi Huriet, par certains de ses aspects - en particulier I’obtention du consentement et l’accès aux « documents sources » –, crée des difficultés importantes pour les cliniciens et de nouveaux dangers pour les malades. Des modifications pourraient y être apportées pour la mettre en harmonie avec le devoir de soins et l’éthique médicale.
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Bonakdari, H., G. Tardif, F. Abram, J. P. Pelletier e J. Martel-Pelletier. "FRI0416 COMBINATION OF SERUM ADIPOKINES/RELATED INFLAMMATORY FACTORS AND RATIOS AS PREDICTORS OF INFRAPATELLAR FAT PAD VOLUME IN KNEE OSTEOARTHRITIS PATIENTS: USAGE OF A COMPREHENSIVE MACHINE LEARNING APPROACH". Annals of the Rheumatic Diseases 79, Suppl 1 (junho de 2020): 806.1–807. http://dx.doi.org/10.1136/annrheumdis-2020-eular.1447.

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Background:One of the hurdles in osteoarthritis (OA) drug discovery and the improvement of therapeutic approaches is the early identification of patients who will progress. It is therefore crucial to find efficient and reliable means of screening OA progressors. Although the main risk factors, age, gender and body mass index (BMI), are important, they alone are poor predictors. However, serum factors could be potential biomarkers for early prediction of knee OA progression.Objectives:In a first step toward finding early reliable predictors of OA progressors, this study aimed to determine, in OA individuals, the optimum combination of serum levels of adipokines/related inflammatory factors, their ratios, and the three main OA risk factors for predicting knee OA infrapatellar fat pad (IPFP) volume, as this tissue has been associated with knee OA onset and progression.Methods:Serum and magnetic resonance images (MRI) were from the Osteoarthritis Initiative at baseline. Variables (48) comprised the 3 main OA risk factors (age, gender, BMI), 6 adipokines, 3 inflammatory factors, and their 36 ratios. IPFP volume was assessed on MRI with a neural network methodology. The best variables and models were identified in Total cohort (n=678), High-BMI (n=341) and Low-BMI (n=337), using an artificial intelligence selection approach: the adaptive neuro-fuzzy inference system embedded with fuzzy c-means clustering (ANFIS-FCM). Performance was validated using uncertainty analyses and statistical indices. Reproducibility was done using 80 OA patients from a clinical trial (female, n=57; male, n=23).Results:For the three groups, 8.44E+14 sub-variables were investigated and 48 models were selected. The best model for each group included five variables: the three risk factors and adipsin/C-reactive protein combined for Total cohort, adipsin/chemerin; High-BMI, chemerin/adiponectin high molecular weight; and Low-BMI, interleukin-8. Data also revealed that the main form of the ratio used for the model was justified, as the use of the inverse form slightly decreased the performance of the model in both training and testing stages. Further investigation indicated that gender improved (13-16%) the prediction results compared to the BMI-based models. For each gender, we then generated a pseudocode (an evolutionary computation equation) with the 5 variables for predicting IPFP volume. Reproducibility experiments were excellent (correlation coefficient: female 0.83, male 0.95).Conclusion:This study demonstrates, for the first time, that the combination of the serum levels of adipokines/inflammatory factors and the three main risk factors of OA could predict IPFP volume with high reproducibility, and superior performance with gender separation. By using the models for each gender and the pseudocodes for OA patients provided in this study, the next step will be to develop a predictive model for OA progressors.Acknowledgments:This work was funded by the Chair in Osteoarthritis of the University of Montreal, the Osteoarthritis Research Unit of the University of Montreal Hospital Research Centre, the Groupe de recherches des maladies rhumatismales du Québec and by ArthroLab Inc., all from Montreal, Quebec, Canada.Disclosure of Interests:Hossein Bonakdari: None declared, Ginette Tardif: None declared, François Abram Employee of: ArthroLab Inc., Jean-Pierre Pelletier Shareholder of: ArthroLab Inc., Grant/research support from: TRB Chemedica, Speakers bureau: TRB Chemedica and Mylan, Johanne Martel-Pelletier Shareholder of: ArthroLab Inc., Grant/research support from: TRB Chemedica
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Trandafir, A., I. Saulescu, A. Balanescu, D. Opris-Belinski, V. Bojinca, F. Berghea, D. Mazilu et al. "AB0690 HOW DID COVID-19 AFFECT PATIENTS WITH RHEUMATIC AND MUSCULOSKELETAL DISEASES TREATED WITH DMARDs – EXPERIENCE FROM A ROMANIAN RHEUMATOLOGY HOSPITAL". Annals of the Rheumatic Diseases 80, Suppl 1 (19 de maio de 2021): 1378. http://dx.doi.org/10.1136/annrheumdis-2021-eular.3092.

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Background:Certainly, the year 2020 changed the healthcare system due to SARS-CoV2 pandemic that affected globally, more than 100 million people, causing more than 2 million of deaths worldwide. The evidence of how this infection impact patients with rheumatic and musculoskeletal diseases treated with disease modifying anti-rheumatic drugs is still an unmet need.Objectives:The main focus of this study is to evaluate the influence of DMARDs therapy on the evolution of COVID-19 disease in patients with RMDs. The second objective is to study and find correlations between the severity of infection in patients with rheumatic diseases.Methods:A retrospective observational study was conducted between June 2020 and January 2021, enrolling 81 patients with rheumatic diseases that went through SARS-CoV2 infection. The data was collected using patients’ clinical documents and through telemedicine, in accordance with EULAR COVID-19 Rheumatological Database.Results:Among the 81 patients, 53 (65,43%) were females and 28 (34,56%) were males. The mean age was 47,9 years old (49,49 years old for females and 45,25 years old for males). The majority lives in urban areas – 62 patients (76,54%).The temporal trends of COVID-19 observed in this cohort was in consonance with the evolution of the pandemic in Romania: one third of cases were recorded between June and October 2020 and two-thirds between November 2020 and January 2021, when the number of COVID-19 cases tripled in the general population.Surprisingly, more than 27% of patients in this study were asymptomatic at the time of COVID-19 diagnosis. They were tested according to the protocol before admission to the hospital. 9,8% of patients also asymptomatic, were tested positive as a screening before leaving the country. The majority (45,6%) were symptomatic or contact with someone infected with SARS-CoV2-and tested positive with RT-PCR.We divided the cohort in 3 groups: patients with mild infection that required no hospitalization (22 patients counting for 27,16%), moderate infection – hospitalization but not in the Intensive Care Unit (52 patients – 64,19%) and severe infection – admission to the ICU/deaths (7 patients in the ICU, 4 deaths – 4,9%).Mild and moderate COVID 19 disease was identified in patients with axial spondyloarthtis (56,7%), with remission or with low disease activity, with a few or no comorbidities, with a mean age of 47,56 years old and also in patients in treatment with MTX (14,86%) or TNF alfa inhibitors (35,13%). 51% of patients stopped the therapy during COVID19 diseases.Factors correlated with severe infection and death were age (the mean age was 62,14), high and moderate disease activity RA, overlap syndromes (RA with SLE or Sjogren Syndrome) and important cardiovascular comorbidities. Two of the deceased patients were in treatment with MTX and RTX (the last infusion was more than 6 months).Conclusion:The data in our study suggests that the use of cs DMARDs (MTX) and TNF alfa inhibitors is associated with better outcomes for patients with RMDs and COVID-19. These results are in accordance with the data found in literature [1,2,3]. The limitation of this study is the little number of patients and the fact that the real number of COVID-19 cases might be higher in reality due to asymptomatic or pauci-symptomatic patients.References:[1]Filière des Maladies Autoimmunes et Autoinflammatoires Rares (FAI2R); Hôpital Huriez, CHU Lille, Univ. Lille, Lille, France, Severity of COVID-19 and survival in patients with rheumatic and inflammatory diseases: data from the French RMD COVID-19 cohort of 694 patients, Annals of the Rheumatic Diseases Published Online First: 02 December 2020[2]Sanchez-Piedra C et al., On behalf of the BIOBADASER study group, et al, Clinical features and outcomes of COVID-19 in patients with rheumatic diseases treated with biological and synthetic targeted therapies,Annals of the Rheumatic Diseases 2020;79:988-990.[3]Hyrich, K.L et al. Rheumatic disease and COVID-19: epidemiology and outcomes. Nat Rev Rheumatol 17, 71–72 (2021)Disclosure of Interests:None declared
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PIRBHAI-JETHA, Neelam, e Pascal BONCOEUR. "Étude d’opinion des Mauricien.nes sur les maladies mentales pouvant être stigmatisantes en particulier concernant les personnes âgées". Trayectorias Humanas Trascontinentales, n.º 12 (7 de dezembro de 2021). http://dx.doi.org/10.25965/trahs.4315.

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Quelle image nous vient-il à l’esprit lorsque l’on pense à une personne atteinte de troubles neurologiques ? Les stéréotypes abondent : soit c’est une personne qui hurle et fracasse tout autour d’elle, soit c’est une personne, assise, silencieuse, sans voix. Pour le premier cas, on l’appellera un fou ou dans le langage mauricien ou le créole « fouca » ou « pagla » ; et pour le deuxième cas, on pense à un vieux, atteint d’Alzheimer. L’Autre, atteint de démence, est souvent perçu comme ayant une identité fragmentée. Il perd ainsi toute sa dignité humaine lorsqu’il est vu comme un personnage inquiétant ou qui fait honte, et lorsqu’il doit être enfermé ou caché de la société. Déconnecté du monde humain, il devient un mort-vivant. Notre étude, toujours dans un état embryonnaire, a pour objectif à court terme de faire un état des lieux des personnes âgées atteintes de troubles neurologiques à Maurice. Nous avons contacté les ONG, des chercheurs travaillant sur le sujet et nous avons aussi fait un sondage sur la perception des Mauriciens sur les personnes âgées atteintes de troubles neurologiques. Les résultats et analyses nous amènent à conclure que davantage d’effort doit être fait pour sensibiliser les gens afin de réduire les stigmates et ainsi créer une société plus inclusive.
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Stein, Talya. "Knowledge Gaps Between Canadian Public Policy and Religious Actors; a New Hurdle for Women in Agunah". Inquiry@Queen's Undergraduate Research Conference Proceedings 16 (2 de maio de 2022). http://dx.doi.org/10.24908/iqurcp15494.

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Knowledge Gaps Between Canadian Public Policy and Religious Actors; a New Hurdle for Women in Agunah This research paper seeks to highlight the harmful social consequences that arise when there are knowledge gaps in Canadian public policy in religious affairs. In order to safeguard the wellbeing of Canadians of faith, Canadian policy makers and adjudicators should operate with a working knowledge of its religious populations and consult religious actors on relevant issues. I will use the Jewish divorce phenomenon, known as agunah, the spiritual chaining of spouses, to illustrate the social consequences that arise once public policy overlooks religious affairs. The kinds of knowledge gaps in Canadian public policy that enables circumstances like agunot, worsens human right’s abuses (Greenberg-Kobrin 1999), and religious and community alienation and the weakening of Canadian institutions (“Bruker v. Marcovitz.”) I will first provide a brief explanation of the agunah phenomenon in order to capture the severity of the religious, as well as spiritual, consequences a refused Jewish divorce leaves in its wake. After an understanding of agunah has been established, I will deconstruct Section 21.2 of the Divorce Act (1990) and exemplify how a situation of agunah could occur by the manipulation of the provision in order to remove barrier to divorce. Lastly, I will employ the 1969 case of “Bruker vs. Markovitz” to explore the instances in which such knowledge gaps weaken Canadian institutions. Though steps have been made by Canadian policy makers and judicial figures in the past to prevent the proliferation of agunah abuse cases, there still lacks sufficient precedent or literature available. This egregious oversight of public policy leaves vulnerable people of faith, most commonly women, to grapple with legal incongruences and spiritual harm alone. An active effort to grasp religious law and legal nuances by public policy makers must be made in order to mitigate social maladies and protect all populations, including the religious populations, of Canada.
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Teses / dissertações sobre o assunto "Maladie de Hurler"

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GUICHARD, EVELYNE. "Greffes allogeniques de moelle osseuse dans les maladies de hurler, hunter et leucodystrophie metachromatique : a propos de cinq cas personnels avec revue de la litterature". Saint-Etienne, 1991. http://www.theses.fr/1991STET6234.

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Dias, Chloé. "Caractérisation des vésicules extracellulaires et étude de leur rôle dans la neuropathologie de la mucopolysaccharidose de type III". Electronic Thesis or Diss., Université de Toulouse (2023-....), 2024. http://www.theses.fr/2024TLSES084.

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La mucopolysaccharidose de type III (MPS III) ou syndrome de Sanfilippo est une maladie pédiatrique rare, d'origine génétique, dite de surcharge lysosomale (MSL) et causée par le déficit en enzymes impliquées dans la dégradation de l'héparane sulfate. Le diagnostic tardif et l'absence de traitement curatif entrainent le décès de l'enfant avant l'âge adulte. Cependant les derniers essais cliniques de thérapie génique chez des enfants atteints de MPS III de type B ont donné des résultats prometteurs. L'accumulation progressive d'oligosaccharides d'héparane sulfate (HSOs) anormaux et partiellement dégradés dans le milieu extracellulaire, active directement la production de cytokines pro-inflammatoires par les astrocytes et la microglie. La mise en place précoce d'une neuroinflammation chronique conduit progressivement à la mort neuronale, à l'origine de troubles neurodégénératifs sévères et irréversibles. Les mécanismes cellulaires liés à la propagation de la neuroinflammation ne sont pas encore élucidés, et une des hypothèses est qu'elle pourrait être médiée par la sécrétion de vésicules extracellulaires (EVs). Chez l'adulte atteint de troubles neurodégénératifs, des travaux récents ont démontré que les EVs provenant de cellules activées et notamment de la microglie, sont chargées d'un contenu moléculaire pathologique spécifique et suscitent un vif intérêt lié à leur utilisation comme biomarqueurs. L'objectif de mon projet de thèse est d'investiguer la contribution des EVs dans la physiopathologie de la MPS III, par i) l'analyse de la composition en protéines et en ARNs des EVs-MPS III et ii) l'évaluation de la réponse biologique des neurones corticaux primaires naïfs au message transmis par ces EVs-MPS III. Dans ce but, j'ai isolé et étudié les EVs provenant de deux modèles de la maladie, le surnageant d'une lignée microgliale activée avec des HSOs de patients MPS III et les tissus cérébraux du modèle murin MPS IIIB. Par l'analyse de la composition en protéines et micro ARNs des EVs, j'ai pu mettre en évidence que les EVs-MPS III transmettent aux cellules réceptrices du système nerveux central (SNC) un cargo altéré et spécifique impliqué dans la réponse inflammatoire et dans le développement neuronal. Ensuite, grâce à des expériences de transmission des EVs-MPS III sur des neurones sauvages corticaux primaires, j'ai pu démontrer, par microscopie à fluorescence, que la morphologie des compartiments somato-dendritiques est fortement altérée. Ensuite, en utilisant des EVs isolés de cerveaux de souris MPS IIIB âgées de 1 mois, 4 mois et 8 mois, j'ai montré que les EVs induisaient une signature transcriptionnelle des neurones différente en fonction des stades de la maladie. En résumé, ces résultats suggèrent fortement que chez les patients atteints du syndrome de Sanfilippo, les EVs participent activement à la progression de la pathologie et au dysfonctionnement des neurones, certainement par la propagation de l'inflammation et l'altération des mécanismes de neurotransmission. Mon travail de thèse a permis de décrire dans nos modèles, que les EVs-MPS III transportent un contenu spécifique et caractéristique de la pathologie et de son évolution. Ces découvertes offrent la perspective d'utilisation des EVs comme biomarqueurs d'évaluation de l'efficacité thérapeutique pour les patients inclus dans les futurs essais cliniques
Mucopolysaccharidosis type III (MPS III) or Sanfilippo syndrome is a rare pediatric inherited disease classified as a lysosomal storage disorder (LSD), caused by the deficiency of enzymes involved in the degradation of heparan sulfate (HS). Late diagnosis and lack of curative treatment lead to the death of the child before adulthood. However, the latest gene therapy clinical trial in children affected by MPS III type B have showed promising results. The progressive accumulation of abnormal and partially degraded heparan sulphate oligosaccharides (HSOs) in the extracellular space, directly activates the production of pro-inflammatory cytokines by astrocytes and microglia. The early onset of neuroinflammation leads progressively to neuronal death, causing severe and irreversible neurodegenerative deficiencies. The cellular mechanisms involved in the propagation of the neuroinflammation remains to be elucidated, and one hypothesis is that it could be mediated through the secretion of extracellular vesicles (EVs). In adults with neurodegenerative disorders, recent works demonstrated that EVs, derived from activated cells and in particular from microglia, are loaded with specific pathological molecular content and are arousing great interest for their use as biomarkers. The objective of my PhD is to investigate the contribution of EVs in the pathophysiology of MPS III, by i) analyzing the composition in proteins and RNAs of MPS III-EVs and ii) studying the biological response of naïve primary cortical neurons to the message transmitted by these MPS III-EVs. For this purpose, I isolated and studied EVs from two models of the disease, the supernatant of a microglia cell line activated by HSOs of MPS III patients and the brain tissues of the MPS IIIB mouse model. By analyzing the proteins and micro RNAs composition of EVs, I was able to demonstrate that MPS III-EVs transmit to the recipient cell of the central nervous system (CNS) a specific and altered cargo involved in inflammatory response and in neuronal development. Then, through transmission experiments of MPS III-EVs to wild-type primary cortical neurons, I was able to demonstrate by fluorescence microscopy, that the morphology of somato-dendritic compartment is strongly altered. Then, using MPS III-EVs isolated from MPS IIIB brains of mice aged of 1 month, 4 months and 8 months, I showed that EVs induced a different transcriptional signature of neuron depending on the stages of the disease. To summarize, these results strongly suggest that in patients with Sanfilippo syndrome, EVs actively participate to the neuron pathology and dysfunction, certainly through the spreading of inflammation and the alteration of neurotransmission mechanisms. My PhD work is the first report on the content of EVs released by MPS III microglia and reveals a disease-associated signature, providing a framework for future studies on biomarkers to evaluate efficiency of emerging therapies
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PENNA, SARA. "Development of novel cell based therapeutic approaches to correct primary and secondary bone defects". Doctoral thesis, Università degli Studi di Milano-Bicocca, 2021. http://hdl.handle.net/10281/304794.

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Le malattie scheletriche pediatriche compromettono fortemente la durata della vita. Disturbi monogenici rari e gravi come l'osteopetrosi autosomica recessiva (ARO) e la mucopolisaccaridosi di tipo 1 Hurler (MPSIH) sono causati rispettivamente da difetti ossei primari e secondari. In particolare, i pazienti con ARO soffrono di elevata densità e fragilità ossea, difetti neurologici e fibrosi del midollo osseo che portano ad un aumento del numero di cellule CD34+ circolanti. La forma più frequente di ARO è dovuta alle mutazioni del gene TCIRG1, che codifica per una pompa protonica necessaria per l'attività di riassorbimento osseo degli osteoclasti. La sindrome MPSIH è uno dei disturbi da accumulo lisosomiale più frequenti, causato da mutazioni del gene IDUA, che codifica per l'enzima alfa-L-iduronidasi. L'enzima IDUA difettoso causa un ingolfamento lisosomiale dovuto al ridotto turnover dei glicosaminoglicani (GAG), portando a gravi disfunzioni degli organi e ad anomalie scheletriche. La patogenesi dei difetti ossei in MPSIH è ancora ampiamente dibattuta. Il trapianto allogenico di cellule staminali ematopoietiche (HSCT) è l'approccio standard per i pazienti ARO e MPSIH, ma l'alta incidenza di esiti avversi e la scarsa disponibilità di donatori compatibili, aprono la strada allo sviluppo di strategie di terapia genica (GT) per curare queste malattie. Nella presente tesi abbiamo sviluppato una nuova strategia di GT basata su vettori lentivirali clinicamente ottimizzati esprimenti il gene TCIRG1. Abbiamo testato il nostro protocollo di GT sul modello di topo oc/oc, molto simile alla malattia umana, con un'aspettativa di vita di 2-3 settimane. I topi GT hanno raggiunto fino a quattro mesi di età, mostrando un miglioramento del fenotipo osseo e dello stato clinico generale. In parallelo, le cellule CD34+ isolate dal sangue di pazienti ARO sono state caratterizzate fenotipicamente in termini di composizione di cellule staminali e progenitori ematopoietici e analizzate dal punto di vista del trascrittoma. Inoltre, le cellule CD34+ circolanti di pazienti ARO sono state trasdotte ed espanse, applicando un protocollo che consente il mantenimento della staminalità. Abbiamo inoltre eseguito test in vitro per valutare la capacità di riassorbimento degli osteoclasti derivati dai pazienti ARO e abbiamo valutato il potenziale di ripopolamento multi-lineage a lungo termine delle cellule CD34+ espanse mediante trapianto primario e secondario in topi NSG. Per quanto riguarda MPSIH, la sperimentazione clinica per la GT è in corso presso SR-Tiget (NCT03488394), e ha mostrato miglioramenti nei difetti scheletrici e nell'attività dell’enziama IDUA dei pazienti MPSIH. Abbiamo studiato la funzionalità degli osteoclasti e il loro ruolo nel fornire l'enzima IDUA nel microambiente osseo, correggendo le cellule stromali mesenchimali e la loro progenie dopo la GT. A tal fine, abbiamo differenziato gli osteoclasti dal sangue o dal midollo osseo di pazienti con MPSIH pre e post-GT, osservando che gli osteoclasti trasdotti producono livelli sovrafisiologici di IDUA, creando così un modello per lo studio del cross talk osteoblasto-osteoclasto. I nostri risultati suggeriscono che la GT rappresenta un trattamento alternativo possibile ed efficace per la cura dell’osteopetrosi TCIRG1-dipendente e della sindrome di Hurler.
Pediatric skeletal diseases strongly impair the lifespan of young children. Rare and severe monogenic disorders like Autosomal Recessive osteopetrosis (ARO) and Mucopolysaccharidosis type 1 Hurler (MPSIH) are caused by primary and secondary bone defects, respectively. In particular, ARO patients suffer from high bone density and fragility, neurological defects and bone marrow fibrosis leading to increased number of circulating CD34+ cells. The most frequent form of ARO is due to mutations in TCIRG1 gene, that encodes for a proton pump necessary for bone resorptive activity of osteoclasts. MPSIH syndrome is one of the most frequent lysosomal storage disorders, caused by mutations of IDUA gene, that encodes for the alpha-L-iduronidase enzyme. Defective IDUA enzyme causes lysosomal engulfment due to impaired turnover of glycosaminoglycans (GAGs), leading to severe organ dysfunctions and skeletal abnormalities. The pathogenesis of bone defects in MPSIH is still largely debated. Allogeneic haematopoietic stem cells transplantation (HSCT) is the standard approach for ARO and MPSIH patients, but the high incidence of adverse outcomes and the low availability of compatible donors, pave the way for the development of gene therapy (GT) strategies to cure these diseases. In the present thesis we developed a novel GT strategy based on clinically-optimized lentiviral vectors, driving TCIRG1 expression. We tested our GT protocol on the oc/oc mouse model, closely resembling the human disease, with a life expectancy of 2-3 weeks. GT mice reached up to four months of age, showing an amelioration of the bone phenotype and an improved clinical status. In parallel, CD34+ cells isolated from the blood of ARO patients were phenotypically characterized in terms of hematopoietic stem and progenitor cells composition and analysed for transcriptome profile. Moreover, ARO circulating CD34+ were transduced and expanded, applying a protocol that allows stemness maintenance. We performed in vitro assays to evaluate resorption capacity of patient-derived osteoclasts and we evaluated the long-term multilineage repopulating potential of expanded CD34+ cells by primary and secondary transplant into NSG mice. With regard to MPSIH, GT clinical trial is ongoing at SR-Tiget (NCT03488394), ameliorating skeletal defects and rescuing IDUA activity of MPSIH patients. We investigated the functionality of osteoclasts and their role in delivering IDUA enzyme in the bone microenvironment, cross-correcting mesenchymal stromal cells and their progeny after GT. To this end, we differentiated osteoclasts from the blood or bone marrow of MPSIH patients pre- and post-GT, observing that transduced osteoclasts produce supraphysiological levels of IDUA thus modulating osteoblast-osteoclast cross talk. Our results suggest that GT represents a feasible alternative treatment for TCIRG1-dependent ARO and Hurler syndrome.
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Katchon, Cossi. "Recherche biomédicale, loi Huriet et information des malades en oncologie médicale : résultats d'une enquête nationale auprès des oncologues médicaux". Bordeaux 2, 1996. http://www.theses.fr/1996BOR2M146.

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Reymondier, Anne. "Information relative au médicament pour essai clinique". Paris 5, 1997. http://www.theses.fr/1997PA05P202.

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Capítulos de livros sobre o assunto "Maladie de Hurler"

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Mhlanga, Nikiwe, e Hendriëtte Van der Walt. "Malaria Diagnostics". In Malaria - Recent Advances, and New Perspectives [Working Title]. IntechOpen, 2022. http://dx.doi.org/10.5772/intechopen.106631.

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The imminent scenario of malaria burden on endemic regions burdens healthcare and is a threat to non-endemic regions. Microscopy and rapid diagnostic tests (RDTs) remain the gold standard for malaria detection in resource-constrained regions. They still present low sensitivity at low parasite density, however, with microscopy also requiring trained personnel, expensive and time consuming. Affordable, rapid, specific, sensitive and simple malaria diagnostics remain elusive. Molecular-based diagnostics, polymerase chain reaction and loop-mediated isothermal amplification, although highly sensitive even at low parasitemia, still have challenges hindering their use in resource-constrained regions. This chapter discusses the conventional microscopy, spectroscopy, RDTs and molecular platforms in malaria detection. It also highlights current interventions on mitigations of their existing hurdles and adaptability to developing regions. Such inventions include the amalgamation of different techniques, nanotechnology and artificial intelligence.
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2

Kaponda, Tendai, e Option Takunda Chiwaridzo. "Empowering Smallholder Farmers Through Community-Based Marketing Initiatives in Promoting Sustainable Agriculture". In Emerging Technologies and Marketing Strategies for Sustainable Agriculture, 101–27. IGI Global, 2024. http://dx.doi.org/10.4018/979-8-3693-4864-2.ch006.

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This review paints a nuanced picture of community-based marketing initiatives (CBMIs) in Zimbabwe, Malawi, and South Africa, highlighting their potential to empower smallholder farmers and contribute to sustainable agriculture. Diverse organisational structures, from centralised models offering efficiency to decentralised ones fostering ownership, provide pathways to market access, fair prices, and reduced dependence on intermediaries. Initiatives like Mbare Musika Market, Blantyre Farmers Market, and Farm in the Veld exemplify this potential, connecting farmers directly to consumers and promoting sustainable practices. Beyond economics, CBMIs foster knowledge sharing, community engagement, and a sense of ownership. This collaborative spirit empowers not just individuals but entire communities. However, challenges like fluctuating demand and regulatory hurdles persist. The road ahead requires continued research, investment, and support, but the potential rewards—thriving farmers, resilient communities, and a flourishing food system—make it a pursuit worth striving for.
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3

Sahoo, Bimal Kumar, Mahesh Pathak, Sushruta Boruah e Kasturi Sarmah. "BIO-ENGINEERED DEFENDERS: CRISPR-CAS9 UNLEASHING DISEASE-RESISTANT INSECTS TO CURB VECTOR-BORNE DISEASES". In Futuristic Trends in Agriculture Engineering & Food Sciences Volume 3 Book 6, 42–52. Iterative International Publisher, Selfypage Developers Pvt Ltd, 2024. http://dx.doi.org/10.58532/v3bcag6p1ch5.

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Vector-borne diseases, such as malaria, dengue fever, and Zika virus, continue to pose significant threats to global public health. Conventional vector control methods often face challenges due to insecticide resistance and unintended ecological consequences. The emergence of the CRISPR-Cas9 gene editing technology offers a groundbreaking opportunity to combat vector-borne diseases through the creation of disease-resistant insects. In this paper, the current state of research and prospects in utilizing CRISPR-Cas9 to engineer insect populations for disease resistance are reviewed. The successes and challenges observed in real-world deployments are discussed, with a focus on containment strategies, ethical considerations, and regulatory hurdles. Additionally, the potential benefits of gene drive systems, species-specific approaches, and combining CRISPR-Cas9 with other vector control methods are explored. Lastly, the importance of public engagement, international collaboration, and a One Health approach to ensure responsible and sustainable implementation is highlighted. By critically analysing the advancements and limitations of bio-engineered defenders, this paper seeks to shed light on the transformative potential of CRISPR-Cas9 in curbing vector-borne diseases and shaping a healthier and safer future.
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