Identification Of The Mutations Associated With Hereditary Hyperferritinemia Cataract Syndrome And Hemochromatosis In A Brazilian Family

[No abstract available]792189192McGill, J.R., Naylor, S.L., Sakaguchi, A.Y., Human ferritin H and L sequences lie on ten different chromosomes. (1987) Hum Genet, 76, pp. 66-72Girelli, D., Olivieri, O., De Franceschi, L., A linkage between hereditary hyperferritinemia not related to iron overload and autosomal dominant congenital cataract. (1995) Br J Haematol, 90, pp. 931-934Beaumont, C., Leneuve, P., Devaux, I., Mutation in the iron responsive element of the L-ferritin mRNA in a family with dominant hyperferritinemia and cataract. (1995) Nat Genet, 90, pp. 444-446Cazzola, M., Skoda, R.C., Translational pathophysiology: a novel molecular mechanism of human disease. (2000) Blood, 95, pp. 3280-3288Ferrari, F., Foglieni, B., Arosio, P., Microelectronic DNA chip for hereditary hyperferritinemia cataract syndrome, a model for large-scale analysis of disorders of iron metabolism. (2006) Hum Mutat, 27, pp. 201-208Ladero, J.M., Hiperferritinemia hereditaria y sobrecarga férrica: no son sinónimos. (2006) Med Clin (Barc), 127, pp. 53-54García-Erce, J.A., Cortés, T., Cremonesi, L., Hiperferritinemia familiar y cataratas congénitas asociadas a mutación del gen HFE. Dos nuevas familias españolas y una nueva mutación (A37T: "Zaragoza"). (2006) Med Clin (Barc), 127, pp. 55-58Papanikolaou, G., Chandrinou, H., Bouzas, E., Hereditary hyperferritinemia cataract syndrome in three unrelated families of Western Greek origin caused by the C39>G mutation of L-ferritin IRE. (2006) Blood Cell Mol Dis, 36, pp. 33-40Vanita, V., Hejtmancik, J.F., Hennies, H.C., Sutural cataract associated with a mutation in the ferritin light chain gene (FTL) in a family of Indian origin. (2006) Mol Vis, 12, pp. 93-99Ruedaa, A.C., Ruanob, M.L.F., Síndrome hereditario de hiperferritinemia y cataratas en una familia española con la mutación A40G (París) en el gen de la L-ferritina (FTL) asociada a la mutación H63D en el gen HFE. (2007) Med Clin (Barc), 129, pp. 414-417Beutler, E., Gelbart, T., West, C., Mutation analysis in hereditary hemochromatosis. (1996) Blood Cell Mol Dis, 22, pp. 187-194Barton, J.C., Shih, W.W.H., Sawada-Hirai, R., Genetic and clinical description of hemochromatosis probands and heterozygotes: evidence that multiple genes linked to the major histocompatibility complex are responsible for hemochromatosis. (1997) Blood Cell Mol Dis, 23, pp. 135-145Adams, P.C., Reboussin, D.M., Barton, J.C., Hemochromatosis and iron-overload screening in a racially diverse population. (2005) N Engl J Med, 352, pp. 1769-1778Lachlan, K.L., Temple, I.K., Mumford, A.D., Clinical features and molecular analysis of seven British kindreds with hereditary hyperferritinaemia cataract syndrome. (2004) Eur J Hum Genet, 12, pp. 790-796Girelli, D., Corrocher, R., Bisceglia, L., Molecular basis for the recently described hereditary hyperferritinemia-cataract syndrome: a mutation in the iron responsive element of ferritin L-subunit gene (the "Verona mutation"). (1995) Blood, 86, pp. 4050-405

Parameters controlling liquid plasma spraying: Solutions, sols, or suspensions

International audienceThis article presents what is our present knowledge in plasma spraying of suspension, sol, and solution in order to achieve finely or nano-structured coatings. First, it describes the different plasma torches used, the way liquid jet is injected, and the different measurements techniques. Then, drops or jet fragmentation is discussed with especially the influence of arc root fluctuations for direct current plasma jets. The heat treatment of drops and droplets is described successively for suspensions, sols, and solutions both in direct current or radio-frequency plasmas, with a special emphasize on the heat treatment, during spraying, of beads and passes deposited. The resulting coating morphologies are commented and finally examples of applications presented: Solid Oxide Fuel Cells, Thermal Barrier coatings, photocatalytic titania, hydroxyapatite, WC-Co, complex oxides or metastable phases, and functional materials coatings

Lifetime measurements in 138^{138}Nd

International audienceLifetimes of several short-lived excited states in Nd138 were measured with the ROSPHERE array at IFIN-HH, Bucharest, using the recoil-distance Doppler shift technique following the Sb123(F19,4n) reaction. The resulting electromagnetic transition probabilities are compared to large-scale shell model calculations and to constrained Hartree-Fock-Bogoliubov calculations with the Gogny D1S interaction, configuration mixing, and a five-dimensional collective Hamiltonian formalism. The onset of collectivity in Nd isotopes below the N=82 shell closure and the deformation induced by the alignment of protons and neutron holes in the h11/2 orbitals are discussed

Safety and efficacy of non-steroidal anti-inflammatory drugs to reduce ileus after colorectal surgery

Background: Ileus is common after elective colorectal surgery, and is associated with increased adverse events and prolonged hospital stay. The aim was to assess the role of non-steroidal anti-inflammatory drugs (NSAIDs) for reducing ileus after surgery. Methods: A prospective multicentre cohort study was delivered by an international, student- and trainee-led collaborative group. Adult patients undergoing elective colorectal resection between January and April 2018 were included. The primary outcome was time to gastrointestinal recovery, measured using a composite measure of bowel function and tolerance to oral intake. The impact of NSAIDs was explored using Cox regression analyses, including the results of a centre-specific survey of compliance to enhanced recovery principles. Secondary safety outcomes included anastomotic leak rate and acute kidney injury. Results: A total of 4164 patients were included, with a median age of 68 (i.q.r. 57\u201375) years (54\ub79 per cent men). Some 1153 (27\ub77 per cent) received NSAIDs on postoperative days 1\u20133, of whom 1061 (92\ub70 per cent) received non-selective cyclo-oxygenase inhibitors. After adjustment for baseline differences, the mean time to gastrointestinal recovery did not differ significantly between patients who received NSAIDs and those who did not (4\ub76 versus 4\ub78 days; hazard ratio 1\ub704, 95 per cent c.i. 0\ub796 to 1\ub712; P = 0\ub7360). There were no significant differences in anastomotic leak rate (5\ub74 versus 4\ub76 per cent; P = 0\ub7349) or acute kidney injury (14\ub73 versus 13\ub78 per cent; P = 0\ub7666) between the groups. Significantly fewer patients receiving NSAIDs required strong opioid analgesia (35\ub73 versus 56\ub77 per cent; P < 0\ub7001). Conclusion: NSAIDs did not reduce the time for gastrointestinal recovery after colorectal surgery, but they were safe and associated with reduced postoperative opioid requirement

Safety of hospital discharge before return of bowel function after elective colorectal surgery

Background: Ileus is common after colorectal surgery and is associated with an increased risk of postoperative complications. Identifying features of normal bowel recovery and the appropriateness for hospital discharge is challenging. This study explored the safety of hospital discharge before the return of bowel function. Methods: A prospective, multicentre cohort study was undertaken across an international collaborative network. Adult patients undergoing elective colorectal resection between January and April 2018 were included. The main outcome of interest was readmission to hospital within 30 days of surgery. The impact of discharge timing according to the return of bowel function was explored using multivariable regression analysis. Other outcomes were postoperative complications within 30 days of surgery, measured using the Clavien\u2013Dindo classification system. Results: A total of 3288 patients were included in the analysis, of whom 301 (9\ub72 per cent) were discharged before the return of bowel function. The median duration of hospital stay for patients discharged before and after return of bowel function was 5 (i.q.r. 4\u20137) and 7 (6\u20138) days respectively (P < 0\ub7001). There were no significant differences in rates of readmission between these groups (6\ub76 versus 8\ub70 per cent; P = 0\ub7499), and this remained the case after multivariable adjustment for baseline differences (odds ratio 0\ub790, 95 per cent c.i. 0\ub755 to 1\ub746; P = 0\ub7659). Rates of postoperative complications were also similar in those discharged before versus after return of bowel function (minor: 34\ub77 versus 39\ub75 per cent; major 3\ub73 versus 3\ub74 per cent; P = 0\ub7110). Conclusion: Discharge before return of bowel function after elective colorectal surgery appears to be safe in appropriately selected patients

Safety of hospital discharge before return of bowel function after elective colorectal surgery

© 2020 BJS Society Ltd Published by John Wiley & Sons LtdBackground: Ileus is common after colorectal surgery and is associated with an increased risk of postoperative complications. Identifying features of normal bowel recovery and the appropriateness for hospital discharge is challenging. This study explored the safety of hospital discharge before the return of bowel function. Methods: A prospective, multicentre cohort study was undertaken across an international collaborative network. Adult patients undergoing elective colorectal resection between January and April 2018 were included. The main outcome of interest was readmission to hospital within 30 days of surgery. The impact of discharge timing according to the return of bowel function was explored using multivariable regression analysis. Other outcomes were postoperative complications within 30 days of surgery, measured using the Clavien–Dindo classification system. Results: A total of 3288 patients were included in the analysis, of whom 301 (9·2 per cent) were discharged before the return of bowel function. The median duration of hospital stay for patients discharged before and after return of bowel function was 5 (i.q.r. 4–7) and 7 (6–8) days respectively (P < 0·001). There were no significant differences in rates of readmission between these groups (6·6 versus 8·0 per cent; P = 0·499), and this remained the case after multivariable adjustment for baseline differences (odds ratio 0·90, 95 per cent c.i. 0·55 to 1·46; P = 0·659). Rates of postoperative complications were also similar in those discharged before versus after return of bowel function (minor: 34·7 versus 39·5 per cent; major 3·3 versus 3·4 per cent; P = 0·110). Conclusion: Discharge before return of bowel function after elective colorectal surgery appears to be safe in appropriately selected patients