Bone Marrow Transplant

Mucopolysaccharidosis type I-H (MPS I-H) is a rare lysosomal storage disorder caused by α-L-Iduronidase deficiency. Early haematopoietic stem cell transplantation (HSCT) is the sole available therapeutic option to preserve neurocognitive functions. We report long-term follow-up (median 9 years, interquartile range 8-16.5) for 51 MPS I-H patients who underwent HSCT between 1986 and 2018 in France. 4 patients died from complications of HSCT and one from disease progression. Complete chimerism and normal α-L-Iduronidase activity were obtained in 84% and 71% of patients respectively. No difference of outcomes was observed between bone marrow and cord blood stem cell sources. All patients acquired independent walking and 91% and 78% acquired intelligible language or reading and writing. Intelligence Quotient evaluation (n = 23) showed that 69% had IQ ≥ 70 at last follow-up. 58% of patients had normal or remedial schooling and 62% of the 13 adults had good socio-professional insertion. Skeletal dysplasia as well as vision and hearing impairments progressed despite HSCT, with significant disability. These results provide a long-term assessment of HSCT efficacy in MPS I-H and could be useful in the evaluation of novel promising treatments such as gene therapy

Résultats fonctionnels et cosmétiques de la chirurgie du ptosis par suspension frontale avec sonde en silicone (à propos de 56 patients)

LILLE2-BU Santé-Recherche (593502101) / SudocPARIS-BIUM (751062103) / SudocSudocFranceF

Recherche de marqueurs associés à la contrainte en azote et en carbone chez la vigne (vitis vinifera var. Cabernet Sauvignon)

L'enjeu de la viticulture, est de produire des fruits de qualité pouvant être utilisés pour la fabrication du vin. Pour cela, les pratiques culturales portent sur le contrôle de l'apport en azote (engrais azotés) et la disponibilité en carbone (limitation de la surface foliaire). Ce travail de thèse a porté sur la recherche de marqueurs biochimiques et moléculaires associés aux conditions de contraintes en azote et en carbone, chez la vigne (Vitis vinifera var Cabernet Sauvignon). L'étude biochimique (concentration en sucre, acides aminés libres) et écophysiologique (croissance des parties végétatives) de boutures fructifères a montré que la croissance (taille des plants et surface foliaire) est le caractère le plus discriminant entre les plants sous contrainte et les plants témoin, sans toutefois permettre de discriminer la contrainte en azote de la contrainte en carbone. Une étude moléculaire a donc été entreprise par téalisation de banques HSS (Hybridation Soustractive Suppréssive) pour les plantes placées en contrainte azotée vs plantes contrôle. Le criblage de ces banques par macroarrays a mis en évidence 137 clones induits ou réprimés par la contrainte en azote.The stake of the vine growing, is to produce fruits of quality suitable for the manufacture of wine. For that, the growing methods related to the control of the nitrogen contribution (nitrate fertilizers and the availability of carbon (limitation of leaf aera). This thesis work concerned the search for biochemical and molecular markers on grape (Vitis vinifera var Cabernet Sauvignon) associated with nitrogen and carbon constraints. he biochemical (sugar concentration, free amino acids, and ecophysiologic (growth of the vegetative parts) studies of fruit-bearing cuttings showed that the growth (size if the plants and leaf aera) is the more discriminating character between the plants under constraint and control conditions. But they did not allow to disciminate the nitrogen and the carbon constraint. A molecular study was thus undertaken by realization of SSH libraries (Subtractive Suppressive Hybridization) for the plants placed in nitrogenized constraint vs control plants. The screening of these libraries by microarrays highlighted 137 clones induced or repressed by the nitrogen constraint.BORDEAUX2-BU Santé (330632101) / SudocSudocFranceF

Relationships between Growth, Growth Response to Nutrient Supply, and Ion Content Using a Recombinant Inbred Line Population in Arabidopsis1[W][OA]

Growth is an integrative trait that responds to environmental factors and is crucial for plant fitness. A major environmental factor influencing plant growth is nutrient supply. In order to explore this relationship further, we quantified growth-related traits, ion content, and other biochemical traits (protein, hexose, and chlorophyll contents) of a recombinant inbred line population of Arabidopsis (Arabidopsis thaliana) grown on different levels of potassium and phosphate. Performing an all subsets multiple regression analyses revealed a link between growth-related traits and mineral nutrient content. Based on our results, up to 85% of growth variation can be explained by variation in ion content, highlighting the importance of ionomics for a broader understanding of plant growth. In addition, quantitative trait loci (QTLs) were detected for growth-related traits, ion content, further biochemical traits, and their responses to reduced supplies of potassium or phosphate. Colocalization of these QTLs is explored, and candidate genes are discussed. A QTL for rosette weight response to reduced potassium supply was identified on the bottom of chromosome 5, and its effects were validated using selected near isogenic lines. These lines retained over 20% more rosette weight in reduced potassium supply, accompanied by an increase in potassium content in their leaves

Methane-cycling communities in a permafrost-affected soil on Herschel Island, Western Canadian Arctic: active layer profiling of mcrA and pmoA genes

In Arctic wet tundra microbial controls on organic matter decomposition are likely to be altered as a result of climatic disruption. Here we present a study on the activity, diversity and vertical distribution of methane-cycling microbial communities in the active layer of wet polygonal tundra on Herschel Island. We recorded methane production rates from 5 to 40 nmol h-1 g-1 wet soil at 10 °C and significantly higher potential methane oxidation rates reaching values of 6 to 10 µmol h-1 g-1 wet soil. Terminal restriction fragment length polymorphism (T-RFLP) and cloning analyses of mcrA and pmoA genes demonstrated that both communities were stratified along the active layer vertical profile. Similar to other wet Arctic tundra, the methanogenic community hosted hydrogenotrophic (Methanobacterium) as well as acetoclastic (Methanosarcina and Methanosaeta) members. A pronounced shift towards a dominance of acetoclastic methanogens was observed in deeper soil layers. In contrast to related circum-Arctic studies, the methane oxidizing (methanotrophic) community on Herschel Island was dominated by members of the type II group (Methylocystis, Methylosinus, and a cluster related to Methylocapsa). The present study represents the first on methane-cycling communities in the Canadian Western Arctic, thus advancing our understanding on these communities in a changing Arctic

Guidelines for the acute care of severe limb trauma patients

GOAL: To provide healthcare professionals with comprehensive multidisciplinary expert recommendations for the acute care of severe limb trauma patients, both during the prehospital phase and after admission to a Trauma Centre. DESIGN: A consensus committee of 21 experts was formed. A formal conflict-of-interest (COI) policy was developed at the onset of the process and enforced throughout. The entire guidelines process was conducted independently of any industrial funding (i.e., pharmaceutical, medical devices). The authors were advised to follow the rules of the Grading of Recommendations Assessment, Development and Evaluation (GRADE®) system to guide assessment of the quality of evidence. The potential drawbacks of making strong recommendations in the presence of low-quality evidence were emphasised. Few recommendations remained non-graded. METHODS: The committee addressed eleven questions relevant to the patient suffering severe limb trauma: 1) What are the key findings derived from medical history and clinical examination which lead to the patient's prompt referral to a Level 1 or Level 2 Trauma Centre? 2) What are the medical devices that must be implemented in the prehospital setting to reduce blood loss? 3) Which are the clinical findings prompting the performance of injected X-ray examinations? 4) What are the ideal timing and modalities for performing fracture fixation? 5) What are the clinical and operative findings which steer the surgical approach in case of vascular compromise and/or major musculoskeletal attrition? 6) How to best prevent infection? 7) How to best prevent thromboembolic complications? 8) What is the best strategy to precociously detect and treat limb compartment syndrome? 9) How to best and precociously detect post-traumatic rhabdomyolysis and prevent rhabdomyolysis-induced acute kidney injury? 10) What is the best strategy to reduce the incidence of fat emboli syndrome and post-traumatic systemic inflammatory response? 11) What is the best therapeutic strategy to treat acute trauma-induced pain? Every question was formulated in a PICO (Patient Intervention Comparison Outcome) format and the evidence profiles were produced. The literature review and recommendations were made according to the GRADE® methodology. RESULTS: The experts' synthesis work and the application of the GRADE method resulted in 19 recommendations. Among the formalised recommendations, 4 had a high level of evidence (GRADE 1+/-) and 12 had a low level of evidence (GRADE 2+/-). For 3 recommendations, the GRADE method could not be applied, resulting in an expert advice. After two rounds of scoring and one amendment, strong agreement was reached on all the recommendations. CONCLUSIONS: There was significant agreement among experts on strong recommendations to improve practices for severe limb trauma patients

Les cultures intermédiaires pour une production agricole durable

Commanditée par les Ministères de l'Agriculture et de l'Environnement, cette étude vise à évaluer l'efficacité des cultures intermédiaires pour piéger l'azote nitrique du sol durant l'interculture et avant son transfert vers les eaux. Elle synthétise aussi les services agronomiques et écologiques rendus par les cultures intermédiaires (bilan d'eau, érosion, gaz à effet de serre, impacts sur les ravageurs et adventices, etc.)