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2. The EUFOREA pocket guide for chronic rhinosinusitis

Author

Hellings, P.W., primary, Fokkens, W.J., additional, Orlandi, R., additional, Adriaensen, G.F., additional, Alobid, I., additional, Baroody, F.M., additional, Bjermer, L., additional, Senior, B.A., additional, Cervin, A., additional, Cohen, N.A., additional, Constantinidis, J., additional, De Corso, E., additional, Desrosiers, M., additional, Diamant, Z., additional, Douglas, R.G., additional, Gane, S., additional, Gevaert, P., additional, Han, J.K., additional, Harvey, R.J., additional, Hopkins, C., additional, Kern, R.C., additional, Landis, B.N., additional, Lee, J.T., additional, Lee, S.E., additional, Leunig, A., additional, Lund, V.J., additional, Manuel-Sprekelsen, B., additional, Mullol, J., additional, Philpott, C., additional, Prokopakis, E., additional, Reitsma, S., additional, Ryan, D., additional, Salmi, S., additional, Scadding, G., additional, Schlosser, R.J., additional, Steinsvik, A., additional, Tomazic, P.V., additional, Van Staeyen, E., additional, Van Zele, T., additional, Vanderveken, O., additional, Viskens, A-S., additional, Conti, D., additional, and Wagenmann, M., additional

Published
2022
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6. European Position Paper on Rhinosinusitis and Nasal Polyps 2020

Author

Fokkens, W.J., primary, Lund, V.J., additional, Hopkins, C., additional, Hellings, P.W., additional, Kern, R., additional, Reitsma, S., additional, Toppila-Salmi, S., additional, Bernal-Sprekelsen, M., additional, Mullol, J., additional, Alobid, I., additional, Terezinha Anselmo-Lima, W., additional, Bachert, C., additional, Baroody, F., additional, von Buchwald, C., additional, Cervin, A., additional, Cohen, N., additional, Constantinidis, J., additional, De Gabory, L., additional, Desrosiers, M., additional, Diamant, Z., additional, Douglas, R.G., additional, Gevaert, P.H., additional, Hafner, A., additional, Harvey, R.J., additional, Joos, G.F., additional, Kalogjera, L., additional, Knill, A., additional, Kocks, J.H., additional, Landis, B.N., additional, Limpens, J., additional, Lebeer, S., additional, Lourenco, O., additional, Matricardi, P.M., additional, Meco, C., additional, O Mahony, L., additional, Philpott, C.M., additional, Ryan, D., additional, Schlosser, R., additional, Senior, B., additional, Smith, T.L., additional, Teeling, T., additional, Tomazic, P.V., additional, Wang, D.Y., additional, Wang, D., additional, Zhang, L., additional, Agius, A.M., additional, Ahlstrom-Emanuelsson, C., additional, Alabri, R., additional, Albu, S., additional, Alhabash, S., additional, Aleksic, A., additional, Aloulah, M., additional, Al-Qudah, M., additional, Alsaleh, S., additional, Baban, M.A., additional, Baudoin, T., additional, Balvers, T., additional, Battaglia, P., additional, Bedoya, J.D., additional, Beule, A., additional, Bofares, K.M., additional, Braverman, I., additional, Brozek-Madry, E., additional, Richard, B., additional, Callejas, C., additional, Carrie, S., additional, Caulley, L., additional, Chussi, D., additional, de Corso, E., additional, Coste, A., additional, Devyani, L., additional, El Hadi, U., additional, Elfarouk, A., additional, Eloy, P.H., additional, Farrokhi, S., additional, Felisati, G., additional, Ferrari, M.D., additional, Fishchuk, R., additional, Grayson, J.W., additional, Goncalves, P.M., additional, Grdinic, B., additional, Grgic, V., additional, Hamizan, A.W., additional, Heinichen, J.V., additional, Husain, S., additional, Ping, T.I., additional, Ivaska, J., additional, Jakimovska, F., additional, Jovancevic, L., additional, Kakande, E., additional, Kamel, R., additional, Karpischenko, S., additional, Kariyawasam, H.H., additional, Kjeldsen, A., additional, Klimek, L., additional, Kim, S.W., additional, Letort, J.J., additional, Lopatin, A., additional, Mahdjoubi, A., additional, Netkovski, J., additional, Tshipukane, D.N., additional, Obando-Valverde, A., additional, Okano, M., additional, Onerci, M., additional, Ong, Y.K., additional, Orlandi, R., additional, Ouennoughy, K., additional, Ozkan, M., additional, Peric, A., additional, Plzak, J., additional, Prokopakis, E., additional, Prepageran, N., additional, Psaltis, A., additional, Pugin, B., additional, Raftopulos, M., additional, Rombaux, P., additional, Sahtout, S., additional, Sarafoleanu, C.-C., additional, Searyoh, K., additional, Rhee, C.-S., additional, Shi, J., additional, Shkoukani, M., additional, Shukuryan, A.K., additional, Sicak, M., additional, Smyth, D., additional, Snidvongs, K., additional, Kosak, T.S., additional, Stjarne, P., additional, Sutikno, B., additional, Steinsvag, S., additional, Tantilipikorn, P., additional, Thanaviratananich, S., additional, Tran, T., additional, Urbancic, J., additional, Valiulis, A., additional, de Aparicio, C.V., additional, Vicheva, D., additional, Virkkula, P.M., additional, Vicente, G., additional, Voegels, R., additional, Wagenmann, M.M., additional, Wardani, R.S., additional, Welge-Lussen, A., additional, Witterick, I., additional, Wright, E., additional, Zabolotniy, D., additional, Zsolt, B., additional, and Zwetsloot, C.P., additional

Published
2020
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7. Development of an innovative high-temperature gas turbine fuel nozzle

Author

Myers, G.D., Armstrong, J.P., White, C.D., Clouser, S., and Harvey, R.J.

Subjects
Gas-turbines -- Fuel and fuel systems, Nozzles -- Research, Engineering and manufacturing industries, Science and technology
Abstract

The objective of the innovative high-temperature fuel nozzle program was to design, fabricate, and test Propulsion engine fuel nozzles capable of performance despite extreme fuel and air inlet temperatures. Although a variety of both passive and active methods for reducing fuel wetted-surface temperatures were studied, simplE thermal barriers were found to offer the best combination of operability, cycle flexibility, and performance. A separate nozzle material study examined several nonmetallics and coating schemes for evidence of passivating or catalytic tendencies. Two pilotless airblast nozzles were developed by employing finite-element modeling to optimize thermal barriers in the stem and tip. Operability of these prototypes was compared to a current state-of-the art piloted, prefilming airblast nozzle, both on the spray bench and through testing in a can-type combustor. The three nozzles were then equipped with internal thermocouples and operated at 1600 [degrees] F air inlet temperature while injecting marine diesel fuel heated to 350 [degrees] F. Measured and predicted internal temperatures as a function of fuel flow rate were compared. Results show that the thermal barrier systems dramatically reduced wetted-surface temperatures and the potential for coke fouling, even in an extreme environment., A program was established to design and test engine fuel nozzles capable of withstanding high fuel and inlet air temperatures. At extreme fuel and air inlet conditions, thermal barriers were found to be effective in decreasing fuel carrying tip structure temperatures and stem temperatures. Two airblast prototypes with thermal barriers on the stem and tip were tested. Comparing the results with those from existing airblast nozzles demonstrate the effectiveness of using thermal barriers.

Published
1992

14. Clinical and immunologic investigations in patients with stiff-person spectrum disorder

Author

Martinez-Hernandez, E. (Eugenia), Ariño, H. (Helena), McKeon, A. (Andrew), Iizuka, T. (Takahiro), Titulaer, M.J. (Maarten), Simabukuro, M.M. (Mateus M.), Lancaster, E. (Eric), Petit-Pedrol, M. (Mar), Planagumà, J. (Jesú), Blanco, Y. (Y.), Harvey, R.J. (Robert), Saiz, A. (Albert Abe), Graus, F., Dalmau, J. (Josep), Martinez-Hernandez, E. (Eugenia), Ariño, H. (Helena), McKeon, A. (Andrew), Iizuka, T. (Takahiro), Titulaer, M.J. (Maarten), Simabukuro, M.M. (Mateus M.), Lancaster, E. (Eric), Petit-Pedrol, M. (Mar), Planagumà, J. (Jesú), Blanco, Y. (Y.), Harvey, R.J. (Robert), Saiz, A. (Albert Abe), Graus, F., and Dalmau, J. (Josep)

Abstract

IMPORTANCE Symptoms of stiff-person syndrome (SPS), stiff-limb syndrome (SLS), or progressive encephalomyelitis with rigidity, myoclonus, or other symptoms (SPS-plus) can occur with several autoantibodies, but the relative frequency of each antibody, syndrome specificity, and prognostic implications are unclear. OBJECTIVE To report the clinical and immunologic findings of a large cohort of patients with stiff-person spectrum disorder (SPSD), including SPS, SLS, and SPS-plus. DESIGN, SETTING, AND PATIENTS This study retrospectively examined a case series (January 1, 1998, through December 31, 2014) of immunologic investigations performed in a neuroimmunology referral center. The study included 121 patients with clinical features of SPSD. Data analysis was performed from July 1, 2015, through November 1, 2015. MAIN OUTCOMES AND MEASURES Analysis of clinical-immunologic associations, including autoantibodies to 8 proteins expressed in inhibitory synapses. RESULTS The median age of the patients was 51 years (interquartile range, 40-61 years), and 75 (62.0%) were female. Fifty (41

Published
2016
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15. Novel missense mutation A789V in IQSEC2 underlies X-linked intellectual disability in the MRX78 family

Author

Kalscheuer, V.M. (Vera), James, V.M. (Victoria M.), Himeiright, M.L. (Miranda L.), Long, P. (Philip), Oegema, R. (Renske), Jensen, C. (Corinna), Bienek, M. (Melanie), Hu, H. (Hao), Haas, S.A. (Stefan A.), Topi, M. (Maya), Hoogeboom, A.J.M. (Jeannette), Harvey, K. (Kirsten), Walikonis, R. (Randall), Harvey, R.J. (Robert), Kalscheuer, V.M. (Vera), James, V.M. (Victoria M.), Himeiright, M.L. (Miranda L.), Long, P. (Philip), Oegema, R. (Renske), Jensen, C. (Corinna), Bienek, M. (Melanie), Hu, H. (Hao), Haas, S.A. (Stefan A.), Topi, M. (Maya), Hoogeboom, A.J.M. (Jeannette), Harvey, K. (Kirsten), Walikonis, R. (Randall), and Harvey, R.J. (Robert)

Abstract

Disease gene discovery in neurodevelopmental disorders, including X-linked intellectual disability (XLID) has recently been accelerated by next-generation DNA sequencing approaches. To date, more than 100 human X chromosome genes involved in neuronal signaling pathways and networks implicated in cognitive function have been identified. Despite these advances, the mutations underlying disease in a large number of XLID families remained unresolved. We report the resolution of MRX78, a large family with six affected males and seven affected females, showing X-linked inheritance. Although a previous linkage study had mapped the locus to the short arm of chromosome X (Xp11.4-p11.23), this region contained too many candidate genes to be analyzed using conventional approaches. However, our X-chromosome exome resequencing, bioinformatics analysis and inheritance testing revealed a missense mutation (c.C2366T, p.A789V) in IQSEC2, encoding a neuronal GDP-GTP exchange factor for Arf family GTPases (ArfGEF) previously implicated in XLID. Molecular modeling of IQSEC2 revealed that the A789V substitution results in the insertion of a larger side-chain into a hydrophobic pocket in the catalytic Sec7 domain of IQSEC2. The A789V change is predicted to result in numerous clashes with adjacent amino acids and disruption of local folding of the Sec7 domain. Consistent with this finding, functional assays

Published
2016
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19. Thioridazine for elderly patients with dementia

Author

Kirchner, V., Kelly, C.A., and Harvey, R.J.

Subjects
Thioridazine -- Evaluation, Senile dementia -- Drug therapy, Health, Drug therapy, Evaluation
Abstract

Question Is thioridazine effective and safe, and does it improve cognitive outcomes in elderly patients with dementia? Data sources Studies were identified by searching MEDLINE, EMBASE/Excerpta Medica, PsycLIT, CINAHL, and [...]

Published
1999

20. Surveillance implications for oesophageal adenocarcinoma using Lagergren criteria for risk

Author

East, J.E. and Harvey, R.J.

Subjects
Adenocarcinoma -- Care and treatment -- Research, Barrett's esophagus -- Care and treatment -- Research, Esophageal cancer -- Care and treatment -- Research, Health, Care and treatment, Research
Abstract

Background and Aims: Severe and longstanding reflux is a significant risk factor (up to 40 times) for oesophageal adenocarcinoma (OA). This risk may be independent of the presence of Barrett's [...]

Published
2004

22. The GDP-GTP exchange factor collybistin: an essential determinant of neuronal gephyrin clustering

Author

Harvey, K., Duguid, I.C., Alldred, M.J., Beatty, S.E., Ward, H., Keep, Nicholas H., Lingenfelter, S.E., Pearce, B.R., Lundgren, J.D., Owens, Max J., Smart, T.G., Luscher, B., Rees, M.I., and Harvey, R.J.

Subjects
bcs
Abstract

Glycine receptors (GlyRs) and specific subtypes of GABA(A) receptors are clustered at synapses by the multidomain protein gephyrin, which in turn is translocated to the cell membrane by the GDP-GTP exchange factor collybistin. We report the characterization of several new variants of collybistin, which are created by alternative splicing of exons encoding an N-terminal src homology 3 (SH3) domain and three alternate C termini (CB1, CB2, and CB3). The presence of the SH3 domain negatively regulates the ability of collybistin to translocate gephyrin to submembrane microaggregates in transfected mammalian cells. Because the majority of native collybistin isoforms appear to harbor the SH3 domain, this suggests that collybistin activity may be regulated by protein-protein interactions at the SH3 domain. We localized the binding sites for collybistin and the GlyR beta subunit to the C-terminal MoeA homology domain of gephyrin and show that multimerization of this domain is required for collybistin-gephyrin and GlyR-gephyrin interactions. We also demonstrate that gephyrin clustering in recombinant systems and cultured neurons requires both collybistin-gephyrin interactions and an intact collybistin pleckstrin homology domain. The vital importance of collybistin for inhibitory synaptogenesis is underlined by the discovery of a mutation (G55A) in exon 2 of the human collybistin gene (ARHGEF9) in a patient with clinical symptoms of both hyperekplexia and epilepsy. The clinical manifestation of this collybistin missense mutation may result, at least in part, from mislocalization of gephyrin and a major GABA(A) receptor subtype.

Published
2004

25. Image-guided surgery influences perioperative morbidity from endoscopic sinus surgery: A systematic review and meta-analysis.

Author

Panizza B., Uren B., Harvey R.J., Snidvongs K., Curotta J., Dalgorf D.M., Sacks R., Brown C., Wormald P.-J., Naidoo Y., Panizza B., Uren B., Harvey R.J., Snidvongs K., Curotta J., Dalgorf D.M., Sacks R., Brown C., Wormald P.-J., and Naidoo Y.

Abstract

Objective. Although image-guided surgery (IGS) is considered a valuable tool, its impact on perioperative morbidity for endoscopic sinus surgery (ESS) remains unclear. The evidence from reported literature is systematically reviewed with meta-analysis. Data Sources. MEDLINE (1946 to September 14, 2012, week 2) and EMBASE (1974 to September 14, 2012, week 37). Review Methods. MEDLINE and EMBASE were searched using a search strategy for publications on IGS during ESS that reported original data on perioperative morbidity. PRISMA (Preferred Reporting Items for Systematic reviews and Meta-Analyses) guidelines were followed. Both comparative cohort studies with non-IGS cases and case series were included. Primary outcome was major and total complications. Secondary outcomes were specific orbital and intracranial injury, major hemorrhage, ability to complete the operation, and revision surgery. The incidence of these events was defined as dichotomous variables and expressed as a risk ratio (RR) in a fixed-effects model. Results. In total, 2586 articles fulfilled the search, producing 55 included studies. Fourteen were comparative cohorts of IGS and non-IGS sinus surgical patient populations used for meta-analysis. Among the cohorts, major complications were more common in the non-IGS group (RR = 0.48; 95% confidence interval [CI], 0.28-0.82; P = .007). Total complications were greater in the non-IGS group (RR = 0.66; 95% CI, 0.47-0.94; P = .02). All other outcomes did not reach significance on meta-analysis. Conclusion. Contrary to current review articles on the topic of IGS use during ESS, there is evidence from published studies that the use of IGS for sinus surgery, within selected populations, is associated with a lower risk of major and total complications compared with non-IGS sinus surgery. © American Academy of Otolaryngology-Head and Neck Surgery Foundation 2013.

Published
2013

26. TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins

Author

Kumar, R.A. (Ravinesh), Pilz, D.T. (Daniela), Babatz, T.D. (Timothy), Cushion, T.D. (Thomas), Harvey, K. (Kirsten), Topf, M. (Maya), Yates, L. (Laura), Robb, S. (Stephanie), Uyanik, G. (Gökhan), Mancini, G.M.S. (Grazia), Rees, M.I. (Mark), Harvey, R.J. (Robert), Dobyns, W.B. (William), Kumar, R.A. (Ravinesh), Pilz, D.T. (Daniela), Babatz, T.D. (Timothy), Cushion, T.D. (Thomas), Harvey, K. (Kirsten), Topf, M. (Maya), Yates, L. (Laura), Robb, S. (Stephanie), Uyanik, G. (Gökhan), Mancini, G.M.S. (Grazia), Rees, M.I. (Mark), Harvey, R.J. (Robert), and Dobyns, W.B. (William)

Abstract

e previously showed that mutations in LIS1 and DCX account for ~85% of patients with the classic form of lissencephaly (LIS). Some rare forms of LIS are associated with a disproportionately small cerebellum, referred to as lissencephaly with cerebellar hypoplasia (LCH). Tubulin alpha1A (TUBA1A), encoding a critical structural subunit of microtubules, has recently been implicated in LIS. Here, we screen the largest cohort of unexplained LIS patients examined to date to determine: (i) the frequency of TUBA1A mutations in patients with lissencephaly, (ii) the spectrum of phenotypes associated with TUBA1A mutations and (iii) the functional consequences of different TUBA1A mutations on microtubule function. We identified novel and recurrent TUBA1A mutations in ~1% of children with classic LIS and in ~30% of children with LCH, making this the first major gene associated with the rare LCH phenotype. We also unexpectedly found a TUBA1A mutation in one child with agenesis of the corpus callosum and cerebellar hypoplasia without LIS. Thus, our data demonstrate a wider spectrum of phenotypes than previously reported and allow us to propose new recommendations for clinical testing. We also provide cellular and structural data suggesting that LIS-associated mutations of TUBA1A operate via diverse mechanisms that include disruption of binding sites for microtubule-associated proteins (MAPs).

Published
2010
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27. Patterns of organisation in the cerebellum and the control of timing

Author

Harvey, R.J.

Subjects
Cerebellum -- Physiological aspects, Muscle contraction -- Physiological aspects, Central nervous system -- Physiological aspects, Psychology and mental health
Abstract

Precise timing of muscle contractions is an important prerequisite for motor control and one to which the cerebellum contributes. Braitenberg et al.'s detailed timing hypotheses relate only to a subset of the known features of the organisation of the cerebellum. However, the cerebellar architecture clearly supports the 'tidal waves' that are central to the authors' proposal and such tidal waves are very likely to contribute to its functions.

Published
1997

34. Early onset familial Alzheimer's disease: mutation frequency in 31 families. (ABN Abstracts)

Author

Janssen, J.C., Beck, J.A., Campbell, T.A., Dickinson, A., Fox, N.C., Harvey, R.J., Houlden, H., Rossor, M.N., and Collinge, J.

Subjects
Neurology -- Research, Health, Psychology and mental health, Research
Abstract

Background: Three causative genes have been identified for autosomal dominant Alzheimer's disease (AD): the amyloid precursor protein (APP), presenilin 1 (PSEN1) and presenilin 2 (PSEN2) genes. In addition a risk [...]

Published
2002

36. Progressive cerebral atrophy in MS

Author

Fox, N.C., primary, Jenkins, R., additional, Leary, S.M., additional, Stevenson, V.L., additional, Losseff, N.A., additional, Crum, W.R., additional, Harvey, R.J., additional, Rossor, M.N., additional, Miller, D.H., additional, and Thompson, A.J., additional

Published
2000
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