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151. Lipodystrophy in HIV-1 infected children in the era of highly active antiretroviral therapy (HAART)

Author

Dzwonek, A., Cole, T., Novelli, V., and Lawson, M.

Subjects
Care and treatment, Research, Health aspects, Highly active antiretroviral therapy -- Health aspects -- Research, HIV infections -- Care and treatment -- Research, Children -- Health aspects -- Research, Lipodystrophy -- Research -- Care and treatment, HIV infection -- Care and treatment -- Research
Abstract

Background: HAART slows the progression of HIV disease and lowers mortality and morbidity in children. Coincident with these advances, an increasing number of reports have identified the emergence of body [...]

Published
2004

153. A family clinic--optimising care for HIV infected children and their families.

Author

Gibb DM, Masters J, Shingadia D, Trickett S, Klein N, Duggan C, Novelli V, Mercey D, Gibb, D M, Masters, J, Shingadia, D, Trickett, S, Klein, N, Duggan, C, Novelli, V, and Mercey, D

Abstract

A family clinic providing specialist paediatric and adult medical, testing, counselling, and terminal care services for families living with HIV was set up at a paediatric tertiary care hospital in London in 1991. During the first five years, until April 1996, 185 children from 149 families attended, including 119 infected children, of whom 32 have died. Only 5% of mothers were born in the UK; the rest were born in 24 different countries, the majority in sub-Saharan Africa. Less than a quarter of children were cared for by both parents, 61% by mothers alone, and 11% by guardians or foster parents. Of the adult attendees, 76% were women, and more than half were untested when they first attended the clinic. Provision of a family planning service within the family clinic was initiated as a result of women presenting with unplanned pregnancies. Shared care with local clinics is increasing, but with the complexity around the management of paediatric HIV infection, particularly with regard to antiretroviral treatments, there is need for continued specialist input. Coordination among specialist and locally based family services is required to provide flexible, accessible, and up to date care for families living with HIV infection in London. [ABSTRACT FROM AUTHOR]

Published
1997
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154. Paediatric HIV infection.

Author

Sharland M, Gibb D, Tudor-Williams G, Walters S, Novelli V, Sharland, M, Gibb, D, Tudor-Williams, G, Walters, S, and Novelli, V

Published
1997
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166. Kaposi's sarcoma and KSHV

Author

Noel, J.C., primary, Shingadia, D., additional, Howard, M.R., additional, Brink, N.S., additional, Gibb, D., additional, Klein, N., additional, Tedder, R., additional, Novelli, V., additional, Ioachim, HarryL., additional, Franceschi, Silvia, additional, and Serraino, Diego, additional

Published
1995
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170. Influence of Ursodeoxycholic Acid on Biliary Lipids

Author

Roda, E., primary, Cipolla, A., additional, Salzetta, A., additional, Marchetto, S., additional, Pezzoli, A., additional, Accogli, E., additional, Novelli, V., additional, Polimeni, C., additional, Cerrè, C., additional, and Mazzella, G., additional

Published
1994
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177. Determination of cadmium and lead in vegetables by stripping chronopotentiometry.

Author

Coco, F. Lo, Monotti, P., Novelli, V., Ceccon, L., Adam, G., and Micali, G.

Subjects
FOOD contamination, CADMIUM, LEAD, SULFURIC acid, METAL ions, THIN films, MERCURY (Element)
Abstract

A method for the determination of cadmium and lead in vegetables by stripping chronopotentiometric analysis, after digestion of the sample with concentrated sulphuric acid and dry-ashing, is described. Metal ions were concentrated as their amalgams on a glassy carbon-working electrode previously coated with a thin mercury film and then stripped by a suitable oxidant. Potential and time data were digitally derived and E was plotted versus dt/dE-1, thus increasing both the sensitivity of the method and the resolution of the analysis. Quantitative analysis was carried out by the method of standard addition; good linearity was obtained in the range of examined concentrations, as was shown by the determination coefficients, which were 0.998 (n = 4) for cadmium and 0.993 (n = 4) for lead. Recoveries of 85-100% for cadmium and of 84-97% for lead were obtained from a sample spiked at different levels. Accuracy was demonstrated by analysis of a matching reference sample of cabbage. The detection limits were 1.8 ng g-1 of wet mass for cadmium and 5.1 ng g-1 of wet mass for lead. The relative standard deviations (mean of nine determinations), evaluated on a real sample, were 6.7 and 6.2%, respectively. Results obtained on 10 different commercial samples of pepper (Capsicum annuum), and egg plant (Solanum melongena) were not significantly different from those obtained by graphite furnace atomic absorption spectrophotometry technique. The average content was in the range 3.1-18.6 ng g-1 for cadmium and 38.2-64.3 ng g-1 for lead. [ABSTRACT FROM AUTHOR]

Published
2004
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178. Retrospective screening for hepatitis C in a tertiary paediatric referral centre.

Author

McKeown, C., Thaker, U., Cubitt, W. D., and Novelli, V.

Abstract

Presents a study which determined the prevalence of hepatitis C virus (HCV) in children who underwent blood transfusion before 1991 in Great Britain. Development of diagnostic testing protocol for HCV; Progression of infection in HCV RNA positive patients; Assessment of clinical findings.

Published
2003

179. A preliminary investigation of dental disease in children with HIV infection.

Author

Gelbier, M., Lucas, V.S., Zervou, N.E., Robertssurname, G.J., and Novelli, V.

Subjects
DENTAL caries, GINGIVITIS, HIV-positive persons, DENTAL care
Abstract

Objective. To establish the levels of dental caries and gingivitis in a group of HIV-positive children. Study group. The study group comprised 35 children with the Human Immunodeficiency Virus attending The Great Ormond Street Hospital For Children. Outcome measures. Outcome measures included the number of decayed, missing and filled teeth and surfaces in both the primary and permanent dentitions; plaque and gingivitis scores. Results. The children included 18 boys and 17 girls. They were aged from 6 months to 18 years, with 17 aged 5 years or less and 15 aged 6 years or older. Twenty-four of the 35 children had some caries experience. The mean dmft was 4·4 and for those with permanent teeth the mean DMFT was 0·7. Mean plaque and gingivitis scores were 16·7 and 5·1 for plaque and gingivitis adjacent to primary teeth and 8·0 and 5·7 for that related to permanent teeth. Conclusions. There is a significant treatment need for children with HIV. [ABSTRACT FROM AUTHOR]

Published
2000
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180. Cardiovascular abnormalities in Kawasaki disease.

Author

NOVELLI, V. M., GALBRAITH, A., ROBINSON, P. J., SMALLHORN, J. F., and MARSHALL, W. C.

Abstract

Eighteen patients with Kawasaki disease underwent serial, cross sectional echocardiographic examinations to determine the extent and subsequent course of cardiac involvement in this disease. The mean follow up period was 12.3 months. Cardiovascular complications were found in a total of 10 patients (55%). Coronary artery aneurysms were detected in 6 patients (33%), pericardial effusions in two, and one patient had electrocardiographic evidence suggesting inferior myocardial infarction. Coronary artery aneurysms, seen exclusively in infants less than 12 months of age, were found in four to regress over a mean period of 7.5 months (range 1 to 13 months). Electrocardiogram, chest radiographs, and clinical examination were unhelpful in identifying those patients with coronary artery aneurysms. Eight patients (44%) were hypertensive, though only two required treatment. While all patients have survived, serial cross sectional echocardiographs should be performed in children with Kawasaki disease to identify those at risk from potentially fatal complications. [ABSTRACT FROM AUTHOR]

Published
1984
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182. Relationship between Changes in Thymic Emigrants and Cell-Associated HIV-1 Dna in HIV-1-Infected Children Initiating Antiretroviral Therapy

Author

De Rossi, Anita, Walker, A Sarah, Forni, Davide De, Klein, Nigel, Gibb, Diana M, Aboulker, J-P, Babiker, A, Compagnucci, A, Darbyshire, J, Debré, M, Gersten, M, Giaquinto, C, Gibb, DM, Jones, A, Aboulker, J-P, Babiker, A, Blanche, S, Bohlin, A-B, Butler, K, Castelli-Gattinara, G, Clayden, P, Darbyshire, J, Debré, M, de Groot, R, Faye, A, Giaquinto, C, Gibb, DM, Griscelli, C, Grosch-Wörner, I, Levy, J, Lyall, H, Mellado Pena, M, Nadal, D, Peckham, C, Ramos Amador, JT, Rosado, L, Rudin, C, Scherpbier, H, Sharland, M, Tovo, PA, Valerius, N, Wintergerst, U, Boucher, C, Clerici, M, de Rossi, A, Klein, N, Loveday, C, Muñoz-Fernandez, M, Pillay, D, Rouzioux, C, Babiker, A, Darbyshire, J, Gibb, DM, Harper, L, Johnson, D, Kelleher, P, McGee, L, Poland, A, Walker, AS, Aboulker, J-P, Carrière, I, Compagnucci, A, Debré, M, Eliette, V, Leonardo, S, Moulinier, C, Saidi, Y, Galli, L, Foot, A, Kershaw, H, Caul, O, Tarnow-Mordi, W, Petrie, J, McIntyre, P, Appleyard, K, Gibb, DM, Novelli, V, Klein, N, McGee, L, Ewen, S, Johnson, M, Gibb, DM, Cooper, E, Fisher, T, Barrie, R, Norman, J, King, D, and Larsson-Sciard, E-L

Abstract

Objectives and methods To investigate the relationship between cell-associated HIV-1 dynamics and recent thymic T-cell emigrants, HIV-1 DNA and T-cell receptor rearrangement excision circles (TREC, a marker of recent thymic emigrants) were measured in peripheral blood mononuclear cells in 181 samples from 33 HIV-1-infected children followed for 96 weeks after antiretroviral therapy (ART) initiation.Results At baseline, HIV-1 DNA was higher in children with higher TREC (P=0.02) and was not related to age, CD4 or HIV-1 RNA in multivariate analyses (P>0.3). Overall, TREC increased and HIV-1 DNA decreased significantly after ART initiation, with faster HIV-1 DNA declines in children with higher baseline TREC (P=0.009). The greatest decreases in HIV-1 DNA occurred in children with the smallest increases in TREC levels during ART (P=0.002). However, this inverse relationship between changes in HIV-1 DNA and TREC tended to vary according to the phase of HIV-1 RNA decline (P=0.13); for the same increase in TREC, HIV-1 DNA decline was much smaller during persistent or transient viraemia compared with stable HIV-1 RNA suppression.Conclusions Overall, these findings indicate that TREC levels predict HIV-1 DNA response to ART and suggest that immune repopulation by thymic emigrants adversely affects HIV-1 DNA decline in the absence of persistent viral suppression, possibly by providing a cellular source for viral infection and replication.

Published
2005
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184. Association of rs2200733 at 4q25 with atrial flutter! fibrillation diseases in an Italian population.

Author

Anselmi, C. Viviani, Novelli, V., Roncarati, R., Malovini, A., Bellazzi, R., Bronzini, R., Marchese, G., Condorelli, G., Montenero, A. S., and Puca, A. A.

Subjects
ATRIAL fibrillation, ATRIAL flutter, PATIENTS, HEART conduction system, DISEASES
Abstract

Background: Atrial fibrillation (AF) and atrial flutter (AFL) are common cardiac conduction disorders affecting many people. Recent studies on sporadic cases of AF/AFL showed a significant association of the single nucleotide polymorphism rs22007331 with the disease, suggesting a genetic factor in the development of the disease. Objectives: To determine the association of rs2200733 with AF/AFL derived from an Italian population sample. Subjects: 78 patients with AF/AFL and 348 controls took part in the study. Design: Genetic case-control study. Results: The results indicate that there is a positive, significant association between the rs2200733 T allele and patients with AF/AFL of Italian origin (allelic p<0.001 with OR = 2.17). Conclusion: These results derived from a sample of the Italian population agree with previously reported findings from an Icelandic study, which also found that the minor allele rs2200733 was associated with AF/AFL disease. [ABSTRACT FROM AUTHOR]

Published
2008
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188. High Performance Liquid Chromatographic Determination of 2-Furaldehyde and 5-Hydroxymethyl-2-Furaldehyde in Processed Citrus Juices

Author

Coco, F. Lo, Valentini, C., Novelli, V., and Ceccon, L.

Abstract

The occurrence of 2-furaldehyde (F) and 5-hydroxymethyl-2-furaldehyde (HMF) in processed citrus juices is an indication of quality deterioration. A close relationship between flavor changes and F content exists, while HMF can give rise to browning reactions. Both F and HMF are formed during heat processing or storage at improper temperatures. The detection of these compounds becomes more and more important as aseptic processing and packaging of citrus juices are becoming widespread. Aseptic packaging allows higher temperatures during distribution and storage to be employed without microbial spoilage, but off-flavors develop as citrus products are exposed to these conditions.In this paper a method of determination by high performance liquid chromatography (HPLC) is described. The method is based on the formation of the 2,4-dinitrophenylhydrazones of carbonyl compounds and subsequent reversed-phase separation of these derivatives. Derivatization is carried out by utilizing an acidic solution of 2,4-dinitrophenylhydrazine in acetonitrile. Precipitation of the derivatives of carbonyl compounds is thus avoided, and direct injection of the sample into the HPLC system is allowed. The determination- offers a high specificity and a detection limit of the order of 10-8 mol/1 for both analytes. Recoveries from an orange juice spiked at different levels are quantitative. Reproducibility data are presented.

Published
1994
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189. Chemotherapy and management of tuberculosis in the United Kingdom: recommendations 1998

Author

Ormerod, P., Campbell, I., Novelli, V., Pozniak, A., Davies, P., Skinner, C., Moore-Gillon, J., Darbyshire, J., and Drobniewski, F.

Abstract

Background The guidelines on chemotherapy and management of tuberculosis in the United Kingdom have been reviewed and updated. Methods A subcommittee was appointed by the Joint Tuberculosis Committee (JTC) of the British Thoracic Society to revise the guidelines published in 1990 by the JTC. In preparing the revised guidelines the authors took account of new published evidence and graded the strength of evidence for their recommendations. The guidelines have been approved by the JTC and the Standards of Care Committee of the British Thoracic Society. Recommendations(1) Patients with tuberculosis should be notified. (2) In view of the rising incidence of drug resistance, bacteriological confirmation and drug susceptibility testing should be sought whenever possible. (3) A six month short course regimen, with four drugs in the initial phase, should be used for all forms of tuberculosis, except meningitis, in both adults and children. (4) The fourth drug (ethambutol) in the initial phase can be omitted in certain circumstances. (5) Treatment of all patients should be supervised by physicians with full training in the management of tuberculosis and with direct working access to tuberculosis nurse specialists or health visitors. (6) Advice is given on (a) management in special situations and patient groups, (b) drug interactions, and special precautions and pretreatment screening, (c) chemoprophylaxis for different groups, and (d) the management of single and multiple drug resistance. (7) Advice is given on follow up after treatment and the organisational framework for tuberculosis services. (8) The role of directly observed therapy is discussed. (9) The management of multidrug resistant tuberculosis is explained in outline: such patients should be managed by physicians with special experience and in close liaison with the Mycobacterium Reference Units, and in hospitals with appropriate isolation facilities. (10) Infection control and segregation for such patients and for patients with dual infection with human immunodeficiency virus (HIV) and tuberculosis are covered in an appendix.

Published
1998

190. Surfactant adjunctive therapy for Pneumocystis carinii pneumonitis in an infant with acute lymphoblastic leukaemia.

Author

Slater, A., Nichani, S., Macrae, D., Wilkinson, K., Novelli, V., Tasker, R., Slater, A J, Nichani, S H, Wilkinson, K A, and Tasker, R C

Abstract

We report successful treatment of adult respiratory distress syndrome (ARDS) with artificial surfactant (40mg/kg, Colfosceril Palmitate, 'Exosurf', Wellcome) in an infant with severe Pneumocystis carinii pneumonitis. [ABSTRACT FROM AUTHOR]

Published
1995
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191. ASP for architectonic asset preservation

Author

Novelli, V., De Vos, M., Padget, J., and D'Ayala, D.

Abstract

To preserve our cultural heritage, it is important to preserve our architectonic assets, comprising buildings, their decorations and the spaces they encompass. In some geographical areas, occasional natural disasters, specifically earthquakes, damage these cultural assets. Perpetuate is a European Union funded project aimed at establishing a methodology for the classification of the damage to these buildings, expressed as "collapse mechanisms". Structural engineering research has identified 17 different collapse mechanisms for masonry buildings damaged by earthquakes. Following established structural engineering practice, paper-based decisions trees have been specified to encode the recognition process for each of the various collapse mechanisms. In this paper, we report on how answer set programming has been applied to the construction of a machine-processable representation of these collapse mechanisms as an alternative for these decision-trees and their subsequent verification and application to building records from L'Aquila, Algiers and Rhodes. As a result, we advocate that structural engineers do not require the time-consuming and error-prone method of decisions trees, but can instead specify the properties of collapse mechanisms directly as an answer set program.

192. Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients

Author

Prattichizzo, C, Macca, M, Novelli, V, Giorgio, G, Barra, A, Franco, B, OFDI COLLABORATIVE GROUP ABDULLA F, ORAL FACIAL DIGITAL TYPE I., Abramowicz, M, Amy, S, Schafer, I, Bankier, A, White, S, Barcina, Mg, Bartoshesky, Le, Jenny, K, Beemer, Fa, Benke, P, Betz, Rc, Bianchini, G, Garavelli, L, Bigoni, S, Bird, L, Chibuk, J, MASSER FRYE, D, Brunetti, N, Scarcella, A, Brunner, Hg, Burn, J, Carmi, R, Castellan, C, Castelluccio, P, Castle, B, Chiong, Ma, Cutiongco, Em, Collins, F, Couchon, E, Curry, A, Pastore, M, Curry, C, Swenerton, A, Treisman, T, Dean, J, Devriendt, K, Matthijs, G, Dunlap, Jw, Shashi, V, Elcioglu, N, Farndon, P, Ferrero, Gb, Ferrier, R, Foulds, N, Friedman, Jm, Gal, A, Orth, U, Gardner, M, Gerola, O, GILLESSEN KAESBACH, G, Giuliano, F, TURC CAREL, C, Gödde, E, Graber, V, Graham, Ge, Gurrieri, F, Harbour, L, Henderson, A, Jones, E, Heran, H, Homfray, T, Taylor, R, Iwarsson, E, Jensen, P, JEZELA STANEK, A, Joss, S, Taylor, G, Keeling, Sl, Klatt, R, Teebi, A, KLEHR MARTINELLI, M, Kotzot, D, Lees, M, Loughlin, S, Lhotta, K, Macdonald, F, Mari, Francesca, Renieri, Alessandra, Marlin, S, Mcgaughran, J, Mckenzie, F, Mcleod, Dr, Megarbane, A, Mota, Cr, Mucke, J, Tzschach, A, Obersztyn, E, Okhowat, R, Shinzel, A, Pfau, R, Pober, B, Raymond, Fl, Reich, E, Reimschisel, T, Robertson, J, Roggenbuck, J, Sabato, A, SANCHEZ DEL POZO, J, SCHELL APACIK, C, Schwaab, E, Selicorni, A, Sell, S, Smithson, S, STRAY PEDERSEN, A, Tan, T, Thiese, H, Tol, J, Toprak, O, Trump, D, Whittaker, J, Williams, D, Zelante, L, and Zoll, B.

Subjects
Male, Adolescent, Genotype, Genetics and epigenetic pathways of disease [NCMLS 6], primary ciliary dysfunction, DNA Mutational Analysis, Molecular Sequence Data, Nonsense mutation, Biology, X-linked dominant male lethal, medicine.disease_cause, Bioinformatics, Frameshift mutation, Cohort Studies, Genomic disorders and inherited multi-system disorders [IGMD 3], 03 medical and health sciences, Cystic kidney disease, OFDI, Genetics, medicine, Humans, Missense mutation, Amino Acid Sequence, Child, mutation analysis, Genetics (clinical), 030304 developmental biology, 0303 health sciences, Mutation, Cilium, 030305 genetics & heredity, Genetic disorder, Proteins, OFD1, Orofaciodigital Syndromes, medicine.disease, 3. Good health, Developmental disorder, Phenotype, Genetic defects of metabolism [UMCN 5.1], Mutation analysis OFD1 OFDI Primary ciliary dysfunction X-linked dominant male lethal, Female, Sequence Alignment, Immunity, infection and tissue repair [NCMLS 1]
Abstract

Contains fulltext : 70803.pdf (Publisher’s version ) (Closed access) Oral-facial-digital type I (OFDI) syndrome is a male-lethal X-linked dominant developmental disorder belonging to the heterogeneous group of oral-facial-digital syndromes (OFDS). OFDI is characterized by malformations of the face, oral cavity, and digits. Central nervous system (CNS) abnormalities and cystic kidney disease can also be part of this condition. This rare genetic disorder is due to mutations in the OFD1 gene that encodes a centrosome/basal body protein necessary for primary cilium assembly and for left-right axis determination, thus ascribing OFDI to the growing number of disorders associated to ciliary dysfunction. We now report a mutation analysis study in a cohort of 100 unrelated affected individuals collected worldwide. Putative disease-causing mutations were identified in 81 patients (81%). We describe 67 different mutations, 64 of which represent novel mutations, including 36 frameshift, nine missense, 11 splice-site, and 11 nonsense mutations. Most of them concentrate in exons 3, 8, 9, 12, 13, and 16, suggesting that these exons may represent mutational hotspots. Phenotypic characterization of the patients provided a better definition of the clinical features of OFDI syndrome. Our results indicate that renal cystic disease is present in 60% of cases >18 years of age. Genotype-phenotype correlation did not reveal significant associations apart for the high-arched/cleft palate most frequently associated to missense and splice-site mutations. Our results contribute to further expand our knowledge on the molecular basis of OFDI syndrome.

194. Genetic analysis suggests lysosomal and immune system involvement in frontotemporal dementia

Author

Ferrari, R., Hernandez, D. G., Nalls, M. A., Rohrer, J. D., Ramasamy, A., Kwok, J. B. J., Dobson-Stone, C., Brooks, W. S., Eld, P. R. Schofi, Halliday, G. M., Hodges, J. R., Piguet, O., Bartley, L., Thompson, E., Haan, E., Hernandez, I., Ruiz, A., Boada, M., Borroni, B., Padovani, A., Cruchaga, C., Cairns, N. J., Benussi, L., Binetti, G., Ghidoni, R., Forloni, G., Galimberti, D., Fenoglio, C., Serpente, M., Scarpini, E., Clarimon, J., Lleo, A., Blesa, R., Waldoe, M. Landqvist, Nilsson, K., Nilsson, C., Mackenzie, I. R. A., Hsiung, G., Mann, D. M. A., Grafman, J., Morris, C. M., Attems, J., Ths, T. D. Griffi, Mckeith, I. G., Thomas, A. J., Pietrini, P., Huey, E. D., Wassermann, E. M., Baborie, A., Jaros, E., Tierney, M. C., Pastor, P., Razquin, C., Ortega-Cubero, S., Alonso, E., Perneczky, R., Diehl-Schmid, J., Alexopoulos, P., Kurz, A., Rubino, I. Rainero E., Pinessi, L., Rogaeva, E., St George-Hyslop, P., Rossi, G., Tagliavini, F., Giaccone, G., Rowe, J. B., Schlachetzki, J. C. M., Uphill, J., Collinge, J., Mead, S., Danek, A., Deerlin, V. M., Grossman, M., Trojanowski, J. Q., Zee, J., Deschamps, W., Langenhove, T., Cruts, M., Broeckhoven, C., Cappa, S. F., Le Ber, I., Hannequin, D., Golfier, V., Vercelletto, M., Alexis Brice, Nacmias, B., Sorbi, S., Bagnoli, S., Piaceri, I., Nielsen, J. E., Hjermind, L. E., Riemenschneider, M., Mayhaus, M., Ibach, B., Gasparoni, G., Pichler, S., Gu, W., Rossor, M. N., Fox, N. C., Warren, J. D., Spillantini, M. G., Morris, H. R., Rizzu, P., Heutink, P., Snowden, J. S., Rollinson, S., Richardson, A., Gerhard, A., Bruni, A. C., Maletta, R., Frangipane, F., Cupidi, C., Bernardi, L., Anfossi, M., Gallo, M., Conidi, M. E., Smirne, N., Rademakers, R., Baker, M., Dickson, D. W., Graff-Radford, N. R., Petersen, R. C., Knopman, D., Josephs, K. A., Boeve, B. F., Parisi, J. E., Seeley, W. W., Miller, B. L., Karydas, A. M., Rosen, H., Swieten, J. C., Dopper, E. G. P., Seelaar, H., Pijnenburg, Y. A., Scheltens, P., Logroscino, G., Capozzo, R., Novelli, V., Puca, A. A., Franceschi, M., Postiglione, A., Milan, G., Sorrentino, P., Kristiansen, M., Chiang, H. H., Graff, C., Pasquier, F., Rollin, A., Deramecourt, V., Lebert, F., Kapogiannis, D., Ferrucci, L., Pickering-Brown, S., Hardy, J., Momeni, P., and Singleton, A. B.

199. Genetic variation across RNA metabolism and cell death gene networks is implicated in the semantic variant of primary progressive aphasia

Author

Bonham, Luke W., Steele, Natasha Z. R., Karch, Celeste M., Broce, Iris, Geier, Ethan G., Wen, Natalie L., Momeni, Parastoo, Hardy, John, Miller, Zachary A., Gorno-Tempini, Maria Luisa, Hess, Christopher P., Lewis, Patrick, Miller, Bruce L., Seeley, William W., Manzoni, Claudia, Desikan, Rahul S., Baranzini, Sergio E., Ferrari, Raffaele, Yokoyama, Jennifer S., Hernandez, D. G., Nalls, M. A., Rohrer, J. D., Ramasamy, A., Kwok, J. B. J., Dobson-Stone, C., Schofield, P. R., Halliday, G. M., Hodges, J. R., Piguet, O., Bartley, L., Thompson, E., Haan, E., Hernández, I., Ruiz, A., Boada, M., Borroni, B., Padovani, A., Cruchaga, C., Cairns, N. J., Benussi, L., Binetti, G., Ghidoni, R., Forloni, G., Albani, D., Galimberti, D., Fenoglio, C., Serpente, M., Scarpini, E., Clarimón, J., Lleó, A., Blesa, R., Landqvist Waldö, M., Nilsson, K., Nilsson, C., Mackenzie, I. R. A., Hsiung, G. -Y. R., Mann, D. M. A., Grafman, J., Morris, C. M., Attems, J., Griffiths, T. D., McKeith, I. G., Thomas, A. J., Pietrini, P., Huey, E. D., Wassermann, E. M., Baborie, A., Jaros, E., Tierney, M. C., Pastor, P., Razquin, C., Ortega-Cubero, S., Alonso, E., Perneczky, R., Diehl-Schmid, J., Alexopoulos, P., Kurz, A., Rainero, I., Rubino, E., Pinessi, L., Rogaeva, E., St George-Hyslop, P., Rossi, G., Tagliavini, F., Giaccone, G., Rowe, J. B., Schlachetzki, J. C. M., Uphill, J., Collinge, J., Mead, S., Danek, A., Van Deerlin, V. M., Grossman, M., Trojanowski, J. Q., Van Der Zee, J., Cruts, M., Van Broeckhoven, C., Cappa, S. F., Leber, I., Hannequin, D., Golfier, V., Vercelletto, M., Brice, A., Nacmias, B., Sorbi, S., Bagnoli, S., Piaceri, I., Nielsen, J. E., Hjermind, L. E., Riemenschneider, M., Mayhaus, M., Ibach, B., Gasparoni, G., Pichler, S., Gu, W., Rossor, M. N., Fox, N. C., Warren, J. D., Spillantini, M. G., Morris, H. R., Rizzu, P., Heutink, P., Snowden, J. S., Rollinson, S., Richardson, A., Gerhard, A., Bruni, A. C., Maletta, R., Frangipane, F., Cupidi, C., Bernardi, L., Anfossi, M., Gallo, M., Conidi, M. E., Smirne, N., Rademakers, R., Baker, M., Dickson, D. W., Graff-Radford, N. R., Petersen, R. C., Knopman, D., Josephs, K. A., Boeve, B. F., Parisi, J. E., Karydas, A. M., Rosen, H., Van Swieten, J. C., Dopper, E. G. P., Seelaar, H., Pijnenburg, Y. A. L., Scheltens, P., Logroscino, G., Capozzo, R., Novelli, V., Puca, A. A., Franceschi, M., Postiglione, A., Milan, G., Sorrentino, P., Kristiansen, M., Chiang, H. -H., Graff, C., Pasquier, F., Rollin, A., Deramecourt, V., Lebouvier, T., Kapogiannis, D., Ferrucci, L., Pickering-Brown, S., and Singleton, A. B.

Subjects
631/208/199, 692/617/375/132, 692/617/375/365, article, 38/39, 631/208/205, 3. Good health
Abstract

The semantic variant of primary progressive aphasia (svPPA) is a clinical syndrome characterized by neurodegeneration and progressive loss of semantic knowledge. Unlike many other forms of frontotemporal lobar degeneration (FTLD), svPPA has a highly consistent underlying pathology composed of TDP-43 (a regulator of RNA and DNA transcription metabolism). Previous genetic studies of svPPA are limited by small sample sizes and a paucity of common risk variants. Despite this, svPPA’s relatively homogenous clinicopathologic phenotype makes it an ideal investigative model to examine genetic processes that may drive neurodegenerative disease. In this study, we used GWAS metadata, tissue samples from pathologically confirmed frontotemporal lobar degeneration, and in silico techniques to identify and characterize protein interaction networks associated with svPPA risk. We identified 64 svPPA risk genes that interact at the protein level. The protein pathways represented in this svPPA gene network are critical regulators of RNA metabolism and cell death, such as SMAD proteins and NOTCH1. Many of the genes in this network are involved in TDP-43 metabolism. Contrary to the conventional notion that svPPA is a clinical syndrome with few genetic risk factors, our analyses show that svPPA risk is complex and polygenic in nature. Risk for svPPA is likely driven by multiple common variants in genes interacting with TDP-43, along with cell death,x` working in combination to promote neurodegeneration.

200. Strength of materials and masonry structures in Malawi

Author

Kloukinas, P., Kafodya, I., Ngoma, I., Novelli, V., Macdonald, J., Goda, K., Kloukinas, P., Kafodya, I., Ngoma, I., Novelli, V., Macdonald, J., and Goda, K.

Abstract

Strength properties of masonry materials commonly used for housing construction in formal and informal settlements in Malawi are investigated by means of laboratory testing, conducted on masonry prisms and panels. The tests are aimed at simulating actual field conditions and construction practices in the country. Based on observations from previous field surveys, specimens were prepared by local artisans using local commercially-produced bricks and various mortar types which were cured in uncontrolled conditions. The results reveal that the behaviour of the masonry in compression is governed by the low compressive strength of the bricks. It was also found that it is the quality of the brick-mortar bonding that governs the in-plane shear and out-ofplane flexural behaviour, which are critical for the resistance to horizontal loading, such as the earthquake action.

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