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442 results on '"Chan, W. M."'

1. A study on energy resolution of CANDLES detector

Author

Khai, B. T., Ajimura, S., Chan, W. M., Fushimi, K., Hazama, R., Hiraoka, H., Iida, T., Kanagawa, K., Kino, H., Kishimoto, T., Maeda, T., Nakajima, K., Nomachi, M., Ogawa, I., Ohata, T., Suzuki, K., Takemoto, Y., Takihira, Y., Tamagawa, Y., Tozawa, M., Tsuzuki, M., Umehara, S., and Yoshida, S.

Subjects
Physics - Instrumentation and Detectors, High Energy Physics - Experiment, Nuclear Experiment
Abstract

In a neutrinoless double-beta decay ($0\nu\beta\beta$) experiment, energy resolution is important to distinguish between $0\nu\beta\beta$ and background events. CAlcium fluoride for studies of Neutrino and Dark matters by Low Energy Spectrometer (CANDLES) discerns the $0\nu\beta\beta$ of $^{48}$Ca using a CaF$_2$ scintillator as the detector and source. Photomultiplier tubes (PMTs) collect scintillation photons. At the Q-value of $^{48}$Ca, the current energy resolution (2.6%) exceeds the ideal statistical fluctuation of the number of photoelectrons (1.6%). Because of CaF$_2$'s long decay constant of 1000 ns, a signal integration within 4000 ns is used to calculate the energy. The baseline fluctuation ($\sigma_{baseline}$) is accumulated in the signal integration, thus degrading the energy resolution. This paper studies $\sigma_{baseline}$ in the CANDLES detector, which severely degrades the resolution by 1% at the Q-value of $^{48}$Ca. To avoid $\sigma_{\rm baseline}$, photon counting can be used to obtain the number of photoelectrons in each PMT; however, a significant photoelectron signal overlapping probability in each PMT causes missing photoelectrons in counting and reduces the energy resolution. "Partial photon counting" reduces $\sigma_{baseline}$ and minimizes photoelectron loss. We obtain improved energy resolutions of 4.5-4.0% at 1460.8 keV ($\gamma$-ray of $^{40}$K), and 3.3-2.9% at 2614.5 keV ($\gamma$-ray of $^{208}$Tl). The energy resolution at the Q-value is estimated to be improved from 2.6% to 2.2%, and the detector sensitivity for the $0\nu\beta\beta$ half-life of $^{48}$Ca can be improved by 1.09 times., Comment: This manuscript is prepared for submission to IEEE Transaction on Nuclear Science. It contains 11 pages, 19 figures, and 1 table

Published
2020
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2. Low background measurement in CANDLES-III for studying the neutrino-less double beta decay of $^{48}$Ca

Author

Ajimura, S., Chan, W. M., Ichimura, K., Ishikawa, T., Kanagawa, K., Khai, B. T., Kishimoto, T., Kino, H., Maeda, T., Matsuoka, K., Nakatani, N., Nomachi, M., Saka, M., Seki, K., Takemoto, Y., Takihira, Y., Tanaka, D., Tanaka, M., Tetsuno, K., Trang, V. T. T., Tsuzuki, M., Umehara, S., Akutagawa, K., Batpurev, T., Doihara, M., Katagiri, S., Kinoshita, E., Hirano, Y., Iga, T., Ishikawa, M., Ito, G., Kakubata, H., Lee, K. K., Li, X., Mizukoshi, K., Moser, M., Ohata, T., Shokati, M., Soberi, M. S., Uehara, T., Wang, W., Yamamoto, K., Yasuda, K., Yoshida, S., Yotsunaga, N., Harada, T., Hiraoka, H., Hiyama, T., Hirota, A., Ikeyama, Y., Kawamura, A., Kawashima, Y., Maeda, S., Nakajima, K., Ogawa, I., Ozawa, K., Shamoto, K., Shimizu, K., Shinki, Y., Tamagawa, Y., Tozawa, M., Yoshizawa, M., Fushimi, K., Hazama, R., Noithong, P., Rittirong, A., Suzuki, K., and Iida, T.

Subjects
High Energy Physics - Experiment, Nuclear Experiment, Physics - Instrumentation and Detectors
Abstract

We developed a CANDLES-III system to study the neutrino-less double beta (0$\nu\beta\beta$) decay of $^{48}$Ca. The proposed system employs 96 CaF$_{2}$ scintillation crystals (305 kg) with natural Ca ($^{\rm nat.}$Ca) isotope which corresponds 350\,g of $^{48}$Ca. External backgrounds were rejected using a 4$\pi$ active shield of a liquid scintillator surrounding the CaF$_2$ crystals. The internal backgrounds caused by the radioactive impurities within the CaF$_2$ crystals can be reduced effectively through analysis of the signal pulse shape. We analyzed the data obtained in the Kamioka underground for a live-time of 130.4\,days to evaluate the feasibility of the low background measurement with the CANDLES-III detector. Using Monte Carlo simulations, we estimated the background rate from the radioactive impurities in the CaF$_{2}$ crystals and the rate of high energy $\gamma$-rays caused by the (n, $\gamma$) reactions induced by environmental neutrons. The expected background rate was in a good agreement with the measured rate, i.e., approximately 10$^{-3}$ events/keV/yr/(kg of $^{\rm nat.}$Ca), in the 0$\nu\beta\beta$ window. In conclusion, the background candidates were estimated properly by comparing the measured energy spectrum with the background simulations. With this measurement method, we performed the first search for 0$\nu\beta\beta$ decay in a low background condition using a detector with a Ca isotope, in which the Ca present was not enriched, in a scale of hundreds of kg. The $^{48}$Ca isotope has a high potential for use in 0$\nu\beta\beta$ decay search, and is expected to be useful for the development of a next-generation detector for highly sensitive measurements., Comment: 26 pages, 9 figures, submitted to Physical Review D

Published
2020
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3. The energy calibration system for CANDLES using (n, \gamma) reaction

Author

Iida, T., Mizukoshi, K., Ohata, T., Uehara, T., Batpurev, T., Chan, W. M., Fushimi, K., Hazama, R., Ishikawa, M., Kakubata, H., Kanagawa, K., Katagiri, S., Khai, B. T., Kishimoto, T., Li, X., Maeda, T., Matsuoka, K., Morishita, K., Moser, M., Nakajima, K., Nomachi, M., Ogawa, I., Shokati, M., Suzuki, K., Takemoto, Y., Takihira, Y., Tamagawa, Y., Tetsuno, K., Trang, V. T. T., Umehara, S., and Yoshida, S.

Subjects
Physics - Instrumentation and Detectors, High Energy Physics - Experiment, Nuclear Experiment
Abstract

CAlcium fluoride for the study of Neutrinos and Dark matters by Low-energy Spectrometer (CANDLES) searches for neutrino-less double beta decay of $^{48}$Ca using a CaF$_2$ scintillator array. A high Q-value of $^{48}$Ca at 4,272 keV enabled us to achieve very low background condition, however, at the same it causes difficulties in calibrating the detector's Q-value region because of the absence of a standard high-energy $\gamma$-ray source. Therefore, we have developed a novel calibration system based on $\gamma$-ray emission by neutron capture on $^{28}$Si, $^{56}$Fe and $^{58}$Ni nuclei. In the paper, we report the development of the new calibration system as well as the results of energy calibration in CANDLES up to 9 MeV., Comment: 6 pages, 7 figures

Published
2020
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4. Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders.

Author

Jurgens, JA, Barry, BJ, Chan, W-M, MacKinnon, S, Whitman, MC, Matos Ruiz, PM, Pratt, BM, England, EM, Pais, L, Lemire, G, Groopman, E, Glaze, C, Russell, KA, Singer-Berk, M, Di Gioia, SA, Lee, AS, Andrews, C, Shaaban, S, Wirth, MM, Bekele, S, Toffoloni, M, Bradford, VR, Foster, EE, Berube, L, Rivera-Quiles, C, Mensching, FM, Sanchis-Juan, A, Fu, JM, Wong, I, Zhao, X, Wilson, MW, Weisburd, B, Lek, M, Ocular CCDD Phenotyping Consortium, Brand, H, Talkowski, ME, MacArthur, DG, O'Donnell-Luria, A, Robson, CD, Hunter, DG, Engle, EC, Jurgens, JA, Barry, BJ, Chan, W-M, MacKinnon, S, Whitman, MC, Matos Ruiz, PM, Pratt, BM, England, EM, Pais, L, Lemire, G, Groopman, E, Glaze, C, Russell, KA, Singer-Berk, M, Di Gioia, SA, Lee, AS, Andrews, C, Shaaban, S, Wirth, MM, Bekele, S, Toffoloni, M, Bradford, VR, Foster, EE, Berube, L, Rivera-Quiles, C, Mensching, FM, Sanchis-Juan, A, Fu, JM, Wong, I, Zhao, X, Wilson, MW, Weisburd, B, Lek, M, Ocular CCDD Phenotyping Consortium, Brand, H, Talkowski, ME, MacArthur, DG, O'Donnell-Luria, A, Robson, CD, Hunter, DG, and Engle, EC

Abstract

PURPOSE: To identify genetic etiologies and genotype/phenotype associations for unsolved ocular congenital cranial dysinnervation disorders (oCCDDs). METHODS: We coupled phenotyping with exome or genome sequencing of 467 probands (550 affected and 1108 total individuals) with genetically unsolved oCCDDs, integrating analyses of pedigrees, human and animal model phenotypes, and de novo variants to identify rare candidate single nucleotide variants, insertion/deletions, and structural variants disrupting protein-coding regions. Prioritized variants were classified for pathogenicity and evaluated for genotype/phenotype correlations. RESULTS: Analyses elucidated phenotypic subgroups, identified pathogenic/likely pathogenic variant(s) in 43/467 probands (9.2%), and prioritized variants of uncertain significance in 70/467 additional probands (15.0%). These included known and novel variants in established oCCDD genes, genes associated with syndromes that sometimes include oCCDDs (e.g., MYH10, KIF21B, TGFBR2, TUBB6), genes that fit the syndromic component of the phenotype but had no prior oCCDD association (e.g., CDK13, TGFB2), genes with no reported association with oCCDDs or the syndromic phenotypes (e.g., TUBA4A, KIF5C, CTNNA1, KLB, FGF21), and genes associated with oCCDD phenocopies that had resulted in misdiagnoses. CONCLUSION: This study suggests that unsolved oCCDDs are clinically and genetically heterogeneous disorders often overlapping other Mendelian conditions and nominates many candidates for future replication and functional studies.

Published
2024

8. Cost‐effectiveness of emergency versus delayed laparoscopic cholecystectomy for acute gallbladder pathology

Author

Sutton, A. J., Vohra, R. S., Hollyman, M., Marriott, P. J., Buja, A., Alderson, D., Pasquali, S., Griffiths, E. A., Vohra, R. S., Spreadborough, P., Hollyman, M., Marriott, P. J., Kirkham, A., Pasquali, S., Alderson, D., Griffiths, E. A., Fenwick, S., Elmasry, M., Nunes, Q. M., Kennedy, D., Khan, R. B., Khan, M. A. S., Magee, C. J., Jones, S. M., Mason, D., Parappally, C. P., Mathur, P., Saunders, M., Jamel, S., Ul Haque, S., Zafar, S., Shiwani, M. H., Samuel, N., Dar, F., Jackson, A., Lovett, B., Dindyal, S., Winter, H., Fletcher, T., Rahman, S., Wheatley, K., Nieto, T., Ayaani, S., Youssef, H., Nijjar, R. S., Watkin, H., Naumann, D., Emesih, S., Sarmah, P. B., Lee, K., Joji, N., Heath, J., Teasdale, R. L., Weerasinghe, C., Needham, P. J., Welbourn, H., Forster, L., Finch, D., Blazeby, J. M., Robb, W., McNair, A. G. K., Hrycaiczuk, A., Charalabopoulos, A., Kadirkamanathan, S., Tang, C.‐B., Jayanthi, N. V. G., Noor, N., Dobbins, B., Cockbain, A. J., Nilsen‐Nunn, A., de Siqueira, J., Pellen, M., Cowley, J. B., Ho, W.‐M., Miu, V., White, T. J., Hodgkins, K. A., Kinghorn, A., Tutton, M. G., Al‐Abed, Y. A., Menzies, D., Ahmad, A., Reed, J., Khan, S., Monk, D., Vitone, L. J., Murtaza, G., Joel, A., Brennan, S., Shier, D., Zhang, C., Yoganathan, T., Robinson, S. J., McCallum, I. J. D., Jones, M. J., Elsayed, M., Tuck, E., Wayman, J., Carney, K., Aroori, S., Hosie, K. B., Kimble, A., Bunting, D.M., Fawole, A. S., Basheer, M., Dave, R. V., Sarveswaran, J., Jones, E., Kendal, C., Tilston, M. P., Gough, M., Wallace, T., Singh, S., Downing, J., Mockford, K. A., Issa, E., Shah, N., Chauhan, N., Wilson, T. R., Forouzanfar, A., Wild, J. R. L., Nofal, E., Bunnell, C., Madbak, K., Rao, S. T. V., Devoto, L., Siddiqi, N., Khawaja, Z., Hewes, J. C., Gould, L., Chambers, A., Rodriguez, D. U., Sen, G., Robinson, S., Carney, K., Bartlett, F., Rae, D. M., Stevenson, T. E. J., Sarvananthan, K., Dwerryhouse, S. J., Higgs, S. M., Old, O. J., Hardy, T. J., Shah, R., Hornby, S. T., Keogh, K., Frank, L., Al‐Akash, M., Upchurch, E. A., Frame, R. J., Hughes, M., Jelley, C., Weaver, S., Roy, S., Sillo, T. O., Galanopoulos, G., Cuming, T., Cunha, P., Tayeh, S., Kaptanis, S., Heshaishi, M., Eisawi, A., Abayomi, M., Ngu, W. S., Fleming, K., Bajwa, D. S., Chitre, V., Aryal, K., Ferris, P., Silva, M., Lammy, S., Mohamed, S., Khawaja, A., Hussain, A., Ghazanfar, M. A., Bellini, M. I., Ebdewi, H., Elshaer, M., Gravante, G., Drake, B., Ogedegbe, A., Mukherjee, D., Arhi, C., Iqbal, L. G. N., Watson, N. F., Aggarwal, S. K., Orchard, P., Villatoro, E., Willson, P. D., Mok, J., Woodman, T., Deguara, J., Garcea, G., Babu, B. I., Dennison, A. R., Malde, D., Lloyd, D., Satheesan, S., Al‐Taan, O., Boddy, A., Slavin, J. P., Jones, R. P., Ballance, L., Gerakopoulos, S., Jambulingam, P., Mansour, S., Sakai, N., Acharya, V., Sadat, M. M., Karim, L., Larkin, D., Amin, K., Khan, A., Law, J., Jamdar, S., Smith, S. R., Sampat, K., Oʼshea, K. M., Manu, M., Asprou, F. M., Malik, N. S., Chang, J., Johnstone, M., Lewis, M., Roberts, G. P., Karavadra, B., Photi, E., Hewes, J., Gould, L., Chambers, A., Rodriguez, D., OʼReilly, D. A., Rate, A. J., Sekhar, H., Henderson, L. T., Starmer, B. Z., Coe, P. O., Tolofari, S., Barrie, J., Bashir, G., Sloane, J., Madanipour, S., Halkias, C., Trevatt, A. E. J., Borowski, D. W., Hornsby, J., Courtney, M. J., Virupaksha, S., Seymour, K., Robinson, S., Hawkins, H., Bawa, S., Gallagher, P. V., Reid, A., Wood, P., Finch, J. G., Parmar, J., Stirland, E., Gardner‐Thorpe, J., Al‐Muhktar, A., Peterson, M., Majeed, A., Bajwa, F. M., Martin, J., Choy, A., Tsang, A., Pore, N., Andrew, D. R., Al‐Khyatt, W., Taylor, C., Bhandari, S., Chambers, A., Subramanium, D., Toh, S. K. C., Carter, N. C., Tate, S., Pearce, B., Wainwright, D., Mercer, S. J., Knight, B., Vijay, V., Alagaratnam, S., Sinha, S., Khan, S., El‐Hasani, S. S., Hussain, A. A., Bhattacharya, V., Kansal, N., Fasih, T., Jackson, C., Siddiqui, M. N., Chishti, I. A., Fordham, I. J., Siddiqui, Z., Bausbacher, H., Geogloma, I., Gurung, K., Tsavellas, G., Basynat, P., Shrestha, A. K., Basu, S., Mohan, A. C., Harilingam, M., Rabie, M., Akhtar, M., Kumar, P., Jafferbhoy, S. F., Hussain, N., Raza, S., Haque, M., Alam, I., Aseem, R., Patel, S., Asad, M., Booth, M. I., Ball, W. R., Wood, C. P. J., Pinho‐Gomes, A. C., Kausar, A., Obeidallah, M. R., Varghase, J., Lodhia, J., Bradley, D., Rengifo, C., Lindsay, D., Gopalswamy, S., Finlay, I., Wardle, S., Bullen, N., Iftikhar, S. Y., Awan, A., Ahmed, J., Leeder, P., Fusai, G., Bond‐Smith, G., Psica, A., Puri, Y., Hou, D., Noble, F., Szentpali, K., Broadhurst, J., Date, R., Hossack, M. R., Goh, Y. L., Turner, P., Shetty, V., Riera, M., Macano, C. A.W., Sukha, A., Preston, S. R., Hoban, J. R., Puntis, D. J., Williams, S. V., Krysztopik, R., Kynaston, J., Batt, J., Doe, M., Goscimski, A., Jones, G. H., Smith, S. R., Hall, C., Carty, N., Ahmed, J., Panteleimonitis, S., Gunasekera, R. T., Sheel, A. R. G., Lennon, H., Hindley, C., Reddy, M., Kenny, R., Elkheir, N., McGlone, E. R., Rajaganeshan, R., Hancorn, K., Hargreaves, A., Prasad, R., Longbotham, D. A., Vijayanand, D., Wijetunga, I., Ziprin, P., Nicolay, C. R., Yeldham, G., Read, E., Gossage, J. A., Rolph, R. C., Ebied, H., Phull, M., Khan, M. A., Popplewell, M., Kyriakidis, D., Hussain, A., Henley, N., Packer, J. R., Derbyshire, L., Porter, J., Appleton, S., Farouk, M., Basra, M., Jennings, N. A., Ali, S., Kanakala, V., Ali, H., Lane, R., Dickson‐Lowe, R., Zarsadias, P., Mirza, D., Puig, S., Al Amari, K., Vijayan, D., Sutcliffe, R., Marudanayagam, R., Hamady, Z., Prasad, A. R., Patel, A., Durkin, D., Kaur, P., Bowen, L., Byrne, J. P., Pearson, K. L., Delisle, T. G., Davies, J., Tomlinson, M. A., Johnpulle, M. A., Slawinski, C., Macdonald, A., Nicholson, J., Newton, K., Mbuvi, J., Farooq, A., Mothe, B. S., Zafrani, Z., Brett, D., Francombe, J., Spreadborough, P., Barnes, J., Cheung, M., Al‐Bahrani, A. Z., Preziosi, G., Urbonas, T., Alberts, J., Mallik, M., Patel, K., Segaran, A., Doulias, T., Sufi, P. A., Yao, C., Pollock, S., Manzelli, A., Wajed, S., Kourkulos, M., Pezzuto, R., Wadley, M., Hamilton, E., Jaunoo, S., Padwick, R., Sayegh, M., Newton, R. C., Hebbar, M., Farag, S. F., Spearman, J., Hamdan, M. F., DʼCosta, C., Blane, C., Giles, M., Peter, M. B., Hirst, N. A., Hossain, T., Pannu, A., El‐Dhuwaib, Y., Morrison, T. E. M., Taylor, G. W., Thompson, R. L. E., McCune, K., Loughlin, P., Lawther, R., Byrnes, C. K., Simpson, D. J., Mawhinney, A., Warren, C., McKay, D., McIlmunn, C., Martin, S., MacArtney, M., Diamond, T., Davey, P., Jones, C., Clements, J.M., Digney, R., Chan, W. M., McCain, S., Gull, S., Janeczko, A., Dorrian, E., Harris, A., Dawson, S., Johnston, D., McAree, B., Ghareeb, E., Thomas, G., Connelly, M., McKenzie, S., Cieplucha, K., Spence, G., Campbell, W., Hooks, G., Bradley, N., Hill, A. D. K., Cassidy, J. T., Boland, M., Burke, P., Nally, D. M., Hill, A. D. K., Khogali, E., Shabo, W., Iskandar, E., McEntee, G. P., OʼNeill, M. A., Peirce, C., Lyons, E. M., OʼSullivan, A. W., Thakkar, R., Carroll, P., Ivanovski, I., Balfe, P., Lee, M., Winter, D. C., Kelly, M. E., Hoti, E., Maguire, D., Karunakaran, P., Geoghegan, J. G., McDermott, F., Martin, S. T., Cross, K. S., Cooke, F., Zeeshan, S., Murphy, J. O., Mealy, K., Mohan, H. M., Nedujchelyn, Y., Ullah, M. F., Ahmed, I., Giovinazzo, F., Milburn, J., Prince, S., Brooke, E., Buchan, J., Khalil, A. M., Vaughan, E. M., Ramage, M. I., Aldridge, R. C., Gibson, S., Nicholson, G. A., Vass, D. G., Grant, A. J., Holroyd, D. J., Jones, M. A., Sutton, C. M. L. R., OʼDwyer, P., Nilsson, F., Weber, B., Williamson, T. K., Lalla, K., Bryant, A., Carter, C. R., Forrest, C. R., Hunter, D. I., Nassar, A. H., Orizu, M. N., Knight, K., Qandeel, H., Suttie, S., Belding, R., McClarey, A., Boyd, A. T., Guthrie, G. J. K., Lim, P. J., Luhmann, A., Watson, A. J. M., Richards, C. H., Nicol, L., Madurska, M., Harrison, E., Boyce, K. M., Roebuck, A., Ferguson, G., Pati, P., Wilson, M. S. J., Dalgaty, F., Fothergill, L., Driscoll, P. J., Mozolowski, K. L., Banwell, V., Bennett, S. P., Rogers, P. N., Skelly, B. L., Rutherford, C. L., Mirza, A. K., Lazim, T., Lim, H. C. C., Duke, D., Ahmed, T., Beasley, W. D., Wilkinson, M. D., Maharaj, G., Malcolm, C., Brown, T. H., Shingler, G. M., Mowbray, N., Radwan, R., Morcous, P., Wood, S., Kadhim, A., Stewart, D. J., Baker, A. L., Tanner, N., Shenoy, H., Hafiz, S., De Marchi, J. A., Singh‐Ranger, D., Hisham, E., Ainley, P., OʼNeill, S., Terrace, J., Napetti, S., Hopwood, B., Rhys, T., Downing, J., Kanavati, O., Coats, M., Aleksandrov, D., Kallaway, C., Yahya, S., Weber, B., Templeton, A., Trotter, M., Lo, C., Dhillon, A., Heywood, N., Aawsaj, Y., Hamdan, A., Reece‐Bolton, O., McGuigan, A., Shahin, Y., Ali, A., Luther, A., Nicholson, J. A., Rajendran, I., Boal, M., and Ritchie, J.

Published
2017
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9. Predicting the difficult laparoscopic cholecystectomy: development and validation of a pre-operative risk score using an objective operative difficulty grading system

Author

Nassar, A. H. M., Hodson, J., H. J., Ng, Vohra, R. S., Katbeh, T., Zino, S., Griffiths, E. A., Kirkham, A. J., Pasquali, S., Marriott, P., Johnstone, M., Spreadborough, P., Alderson, D., Fenwick, S., Elmasry, M., Nunes, Q. M., Kennedy, D., Khan, R. B., Khan, M. A. S., Magee, C. J., Jones, S. M., Mason, D., Parappally, C. P., Mathur, P., Saunders, M., Jamel, S., Haque, S. U., Zafar, S., Shiwani, M. H., Samuel, N., Dar, F., Jackson, A., Lovett, B., Dindyal, S., Winter, H., Fletcher, T., Rahman, S., Wheatley, K., Nieto, T., Ayaani, S., Youssef, H., Nijjar, R. S., Watkin, H., Naumann, D., Emesih, S., Sarmah, P. B., Lee, K., Joji, N., Lambert, J., Heath, J., Teasdale, R. L., Weerasinghe, C., Needham, P. J., Welbourn, H., Forster, L., Finch, D., Blazeby, J. M., Robb, W., Mcnair, A. G. K., Hrycaiczuk, A., Charalabopoulos, A., Kadirkamanathan, S., Tang, C. -B., Jayanthi, N. V. G., Noor, N., Dobbins, B., Cockbain, A. J., Nilsen-Nunn, A., de Siqueira, J., Pellen, M., Cowley, J. B., W. -M., Ho, Miu, V., White, T. J., Hodgkins, K. A., Kinghorn, A., Tutton, M. G., Al-Abed, Y. A., Menzies, D., Ahmad, A., Reed, J., Khan, S., Monk, D., Vitone, L. J., Murtaza, G., Joel, A., Brennan, S., Shier, D., Zhang, C., Yoganathan, T., Robinson, S. J., Mccallum, I. J. D., Jones, M. J., Elsayed, M., Tuck, L., Wayman, J., Carney, K., Aroori, S., Hosie, K. B., Kimble, A., Bunting, D. M., Fawole, A. S., Basheer, M., Dave, R. V., Sarveswaran, J., Jones, E., Kendal, C., Tilston, M. P., Gough, M., Wallace, T., Singh, S., Mockford, J. D. K. A., Issa, E., Shah, N., Chauhan, N., Wilson, T. R., Forouzanfar, A., Wild, J. R. L., Nofal, E., Bunnell, C., Madbak, K., Rao, S. T. V., Devoto, L., Siddiqi, N., Khawaja, Z., Hewes, J. C., Gould, L., Chambers, A., Rodriguez, D. U., Sen, G., Robinson, S., Bartlett, F., Rae, D. M., Stevenson, T. E. J., Sarvananthan, K., Dwerryhouse, S. J., Higgs, S. M., Old, O. J., Hardy, T. J., Shah, R., Hornby, S. T., Keogh, K., Frank, L., Al-Akash, M., Upchurch, E. A., Frame, R. J., Hughes, M., Jelley, C., Weaver, S., Roy, S., Sillo, T. O., Galanopoulos, G., Cuming, T., Cunha, P., Tayeh, S., Kaptanis, S., Heshaishi, M., Eisawi, A., Abayomi, M., Ngu, W. S., Fleming, K., Bajwa, D. S., Chitre, V., Aryal, K., Ferris, P., Silva, M., Lammy, S., Mohamed, S., Khawaja, A., Hussain, A., Ghazanfar, M. A., Bellini, M. I., Ebdewi, H., Elshaer, M., Gravante, G., Drake, B., Ogedegbe, A., Mukherjee, D., Arhi, C., Giwa, L., Iqbal, N., Watson, N. F., Aggarwal, S. K., Orchard, P., Villatoro, E., Willson, P. D., Mok, K. W. J., Woodman, T., Deguara, J., Garcea, G., Babu, B. I., Dennison, A. R., Malde, D., Lloyd, D., Satheesan, S., Al-Taan, O., Boddy, A., Slavin, J. P., Jones, R. P., Ballance, L., Gerakopoulos, S., Jambulingam, P., Mansour, S., Sakai, N., Acharya, V., Sadat, M. M., Karim, L., Larkin, D., Amin, K., Khan, A., Law, J., Jamdar, S., Smith, S. R., Sampat, K., O'Shea, K. M., Manu, M., Asprou, F. M., Malik, N. S., Chang, J., Lewis, M., Roberts, G. P., Karavadra, B., Photi, E., Hewes, J., Rodriguez, D., O'Reilly, D. A., Rate, A. J., Sekhar, H., Henderson, L. T., Starmer, B. Z., Coe, P. O., Tolofari, S., Barrie, J., Bashir, G., Sloane, J., Madanipour, S., Halkias, C., Trevatt, A. E. J., Borowski, D. W., Hornsby, J., Courtney, M. J., Virupaksha, S., Seymour, K., Hawkins, H., Bawa, S., Gallagher, P. V., Reid, A., Wood, P., Finch, J. G., Guy Finch, J., Parmar, J., Stirland, E., Gardner-Thorpe, J., Al-Muhktar, A., Peterson, M., Majeed, A., Bajwa, F. M., Martin, J., Choy, A., Tsang, A., Pore, N., Andrew, D. R., Al-Khyatt, W., Taylor, C., Bhandari, S., Subramanium, D., Toh, S. K. C., Carter, N. C., Tate, S., Pearce, B., Wainwright, D., Mercer, S. J., Knight, B., Vijay, V., Alagaratnam, S., Sinha, S., El-Hasani, S. S., Hussain, A. A., Bhattacharya, V., Kansal, N., Fasih, T., Jackson, C., Siddiqui, M. N., Chishti, I. A., Fordham, I. J., Siddiqui, Z., Bausbacher, H., Geogloma, I., Gurung, K., Tsavellas, G., Basynat, P., Shrestha, A. K., Basu, S., Chhabra, A., Harilingam, M., Rabie, M., Akhtar, M., Kumar, P., Jafferbhoy, S. F., Hussain, N., Raza, S., Haque, M., Alam, I., Aseem, R., Patel, S., Asad, M., Booth, M. I., Ball, W. R., Wood, C. P. J., Pinho-Gomes, A. C., Kausar, A., Obeidallah, M. R., Varghase, J., Lodhia, J., Bradley, D., Rengifo, C., Lindsay, D., Gopalswamy, S., Finlay, I., Wardle, S., Bullen, N., Iftikhar, S. Y., Awan, A., Ahmed, J., Leeder, P., Fusai, G., Bond-Smith, G., Psica, A., Puri, Y., Hou, D., Noble, F., Szentpali, K., Broadhurst, J., Date, R., Hossack, M. R., Goh, Y. L., Turner, P., Shetty, V., Riera, M., Macano, C. A. W., Sukha, A., Preston, S. R., Hoban, J. R., Puntis, D. J., Williams, S. V., Krysztopik, R., Kynaston, J., Batt, J., Doe, M., Goscimski, A., Jones, G. H., Hall, C., Carty, N., Panteleimonitis, S., Gunasekera, R. T., Sheel, A. R. G., Lennon, H., Hindley, C., Reddy, M., Kenny, R., Elkheir, N., Mcglone, E. R., Rajaganeshan, R., Hancorn, K., Hargreaves, A., Prasad, R., Longbotham, D. A., Vijayanand, D., Wijetunga, I., Ziprin, P., Nicolay, C. R., Yeldham, G., Read, E., Gossage, J. A., Rolph, R. C., Ebied, H., Phull, M., Khan, M. A., Popplewell, M., Kyriakidis, D., Henley, N., Packer, J. R., Derbyshire, L., Porter, J., Appleton, S., Farouk, M., Basra, M., Jennings, N. A., Ali, S., Kanakala, V., Ali, H., Lane, R., Dickson-Lowe, R., Zarsadias, P., Mirza, D., Puig, S., Al Amari, K., Vijayan, D., Sutcliffe, R., Marudanayagam, R., Hamady, Z., Prasad, A. R., Patel, A., Durkin, D., Kaur, P., Bowen, L., Byrne, J. P., Pearson, K. L., Delisle, T. G., Davies, J., Tomlinson, M. A., Johnpulle, M. A., Slawinski, C., Macdonald, A., Nicholson, J., Newton, K., Mbuvi, J., Farooq, A., Mothe, B. S., Zafrani, Z., Brett, D., Francombe, J., Barnes, J., Cheung, M., Al-Bahrani, A. Z., Preziosi, G., Urbonas, T., Alberts, J., Mallik, M., Patel, K., Segaran, A., Doulias, T., Sufi, P. A., Yao, C., Pollock, S., Manzelli, A., Wajed, S., Kourkulos, M., Pezzuto, R., Wadley, M., Hamilton, E., Jaunoo, S., Padwick, R., Sayegh, M., Newton, R. C., Hebbar, M., Farag, S. F., Spearman, J., Hamdan, M. F., D'Costa, C., Blane, C., Giles, M., Peter, M. B., Hirst, N. A., Hossain, T., Pannu, A., El-Dhuwaib, Y., Morrison, T. E. M., Taylor, G. W., Thompson, R. L. E., Mccune, K., Loughlin, P., Lawther, R., Byrnes, C. K., Simpson, D. J., Mawhinney, A., Warren, C., Mckay, D., Mcilmunn, C., Martin, S., Macartney, M., Diamond, T., Davey, P., Jones, C., Clements, J. M., Digney, R., Chan, W. M., Mccain, S., Gull, S., Janeczko, A., Dorrian, E., Harris, A., Dawson, S., Johnston, D., Mcaree, B., Ghareeb, E., Thomas, G., Connelly, M., Mckenzie, S., Cieplucha, K., Spence, G., Campbell, W., Hooks, G., Bradley, N., Hill, A. D. K., Cassidy, J. T., Boland, M., Burke, P., Nally, D. M., Khogali, E., Shabo, W., Iskandar, E., Mcentee, G. P., O'Neill, M. A., Peirce, C., Lyons, E. M., O'Sullivan, A. W., Thakkar, R., Carroll, P., Ivanovski, I., Balfe, P., Lee, M., Winter, D. C., Kelly, M. E., Hoti, E., Maguire, D., Karunakaran, P., Geoghegan, J. G., Mcdermott, F., Martin, S. T., Cross, K. S., Cooke, F., Zeeshan, S., Murphy, J. O., Mealy, K., Mohan, H. M., Nedujchelyn, Y., Ullah, M. F., Ahmed, I., Giovinazzo, F., Milburn, J., Prince, S., Brooke, E., Buchan, J., Khalil, A. M., Vaughan, E. M., Ramage, M. I., Aldridge, R. C., Gibson, S., Nicholson, G. A., Vass, D. G., Grant, A. J., Holroyd, D. J., Jones, M. A., Sutton, C. M. L. R., O'Dwyer, P., Nilsson, F., Weber, B., Williamson, T. K., Lalla, K., Bryant, A., Carter, C. R., Forrest, C. R., Hunter, D. I., Nassar, A. H., Orizu, M. N., Knight, K., Qandeel, H., Suttie, S., Belding, R., Mcclarey, A., Boyd, A. T., Guthrie, G. J. K., Lim, P. J., Luhmann, A., Watson, A. J. M., Richards, C. H., Nicol, L., Madurska, M., Harrison, E., Boyce, K. M., Roebuck, A., Ferguson, G., Pati, P., Wilson, M. S. J., Dalgaty, F., Fothergill, L., Driscoll, P. J., Mozolowski, K. L., Banwell, V., Bennett, S. P., Rogers, P. N., Skelly, B. L., Rutherford, C. L., Mirza, A. K., Lazim, T., Lim, H. C. C., Duke, D., Ahmed, T., Beasley, W. D., Wilkinson, M. D., Maharaj, G., Malcolm, C., Brown, T. H., Al-Sarireh, B., Shingler, G. M., Mowbray, N., Radwan, R., Morcous, P., Wood, S., Kadhim, A., Stewart, D. J., Baker, A. L., Tanner, N., Shenoy, H., Hafiz, S., De Marchi, J. A., Singh-Ranger, D., Hisham, E., Ainley, P., O'Neill, S., Terrace, J., Napetti, S., Hopwood, B., Rhys, T., Downing, J., Kanavati, O., Coats, M., Aleksandrov, D., Kallaway, C., Yahya, S., Templeton, A., Trotter, M., Lo, C., Dhillon, A., Heywood, N., Aawsaj, Y., Hamdan, A., Reece-Bolton, O., Mcguigan, A., Shahin, Y., Aymon, Luther, A. A., Nicholson, J. A., Rajendran, I., Boal, M., and Ritchie, J.

Subjects
Adult, Male, operative difficulty, medicine.medical_specialty, medicine.medical_treatment, Difficulty grading, difficult cholecystectomy, predictive score, surgery, laparoscopic, cholecystectomy, Surgical planning, Cohort Studies, 03 medical and health sciences, 0302 clinical medicine, Risk Factors, Preoperative Care, Humans, Medicine, Laparoscopic cholecystectomy, Framingham Risk Score, business.industry, General surgery, Reproducibility of Results, Middle Aged, medicine.disease, Pre operative, Single surgeon, Cholecystectomy, Laparoscopic, ROC Curve, 030220 oncology & carcinogenesis, Multivariate Analysis, Cholecystitis, Female, 030211 gastroenterology & hepatology, Surgery, Cholecystectomy, business, Abdominal surgery
Abstract

The prediction of a difficult cholecystectomy has traditionally been based on certain pre-operative clinical and imaging factors. Most of the previous literature reported small patient cohorts and have not used an objective measure of operative difficulty. The aim of this study was to develop a pre-operative score to predict difficult cholecystectomy, as defined by a validated intra-operative difficulty grading scale. Two cohorts from prospectively maintained databases of patients who underwent laparoscopic cholecystectomy were analysed: the CholeS Study (8755 patients) and a single surgeon series (4089 patients). Factors potentially predictive of difficulty were correlated to the Nassar intra-operative difficulty scale. A multivariable binary logistic regression analysis was then used to identify factors that were independently associated with difficult laparoscopic cholecystectomy, defined as operative difficulty grades 3 to 5. The resulting model was then converted to a risk score, and validated on both internal and external datasets. Increasing age and ASA classification, male gender, diagnosis of CBD stone or cholecystitis, thick-walled gallbladders, CBD dilation, use of pre-operative ERCP and non-elective operations were found to be significant independent predictors of difficult cases. A risk score based on these factors returned an area under the ROC curve of 0.789 (95% CI 0.773–0.806, p

Published
2019
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10. A prospective study on serum citrate levels and clinical correlations in patients receiving regional citrate anticoagulation.

Author

To, Harmony H M, Kwan, Arthur M C, Leung, Natalie Y Y, Chan, W M, Ngai, C W, Wong, Alfred S K, Tsai, Polly N W, Ma, Tammy S K, Yam, Irene, Ng, Pauline Yeung, and Yap, Desmond Y H

Subjects
CITRATES, RECEIVER operating characteristic curves, INTENSIVE care units, LONGITUDINAL method, RENAL replacement therapy
Abstract

Background Current ways to diagnose citrate accumulation (CA) in patients receiving regional citrate anticoagulation (RCA) continuous renal replacement therapy (CRRT) are confounded by various clinical factors. Serum citrate measurement emerges as a more direct way to diagnose CA, but its clinical utility and optimal cut-off values remain undefined. This study examined serum citrate kinetics and its diagnostic performance for CA in patients receiving RCA CRRT. Methods A multicentre prospective study was carried out in two tertiary referral centre intensive care units in Hong Kong with serum citrate levels measured at baseline and 2, 6, 12, 24, 36, 48 and 72 h after initiation of RCA CRRT and their relationships with the development of CA. Results Among the 133 patients analysed, 18 patients (13.5%) developed CA. The serum citrate levels at baseline and 2, 6 and 12 h after initiation of RCA CRRT in patients who had CA were significantly higher than the non-CA group (P  < .001 for all). The CA group also had higher serum citrate levels than the non-CA group {median 0.93 mmol/L [interquartile range (IQR) 0.81–1.16) versus 0.37 mmol/L (IQR 0.26–0.57), P  < .001}. Using a cut-off of 0.85 mmol/L, the serum citrate level had a sensitivity of 0.77 and a specificity 0.96 for the diagnosis of CA [area under the receiver operating characteristics curve (AUROC) 0.90, P  < .001]. The 2-h and 6-h serum citrate levels had good discriminatory abilities for predicting subsequent development of CA (AUROC 0.86 and 0.83 for 2-h and 6-h citrate levels using cut-off values of 0.34 and 0.63 mmol/L, respectively; P  < .001). Conclusion Serum citrate levels were significantly higher in patients with CA compared with patients without CA. Serum citrate levels showed good performance in diagnosing and predicting the development of CA. [ABSTRACT FROM AUTHOR]

Published
2023
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11. Low background measurement in CANDLES-III for studying the neutrinoless double beta decay of <math><mrow><mmultiscripts><mrow><mi>Ca</mi></mrow><mprescripts></mprescripts><none></none><mrow><mn>48</mn></mrow></mmultiscripts></mrow></math>

Author

Ajimura, S., Chan, W. M., Ichimura, K., Ishikawa, T., Kanagawa, K., Khai, B. T., Kishimoto, T., Kino, H., Maeda, T., Matsuoka, K., Nakatani, N., Nomachi, M., Saka, M., Seki, K., Takemoto, Y., Takihira, Y., Tanaka, D., Tanaka, M., Tetsuno, K., Trang, V. T. T., Tsuzuki, M., Umehara, S., Akutagawa, K., Batpurev, T., Doihara, M., Katagiri, S., Kinoshita, E., Hirano, Y., Iga, T., Ishikawa, M., Ito, G., Kakubata, H., Lee, K. K., Li, X., Mizukoshi, K., Moser, M., Ohata, T., Shokati, M., Soberi, M. S., Uehara, T., Wang, W., Yamamoto, K., Yasuda, K., Yoshida, S., Yotsunaga, N., Harada, T., Hiraoka, H., Hiyama, T., Hirota, A., Ikeyama, Y., Kawamura, A., Kawashima, Y., Maeda, S., Nakajima, K., Ogawa, I., Ozawa, K., Shamoto, K., Shimizu, K., Shinki, Y., Tamagawa, Y., Tozawa, M., Yoshizawa, M., Fushimi, K., Hazama, R., Noithong, P., Rittirong, A., Suzuki, K., and Iida, T.

Abstract

We developed a CANDLES-III system to study the neutrinoless double beta (0νββ) decay of Ca48. The proposed system employs 96 CaF2 scintillation crystals (305 kg) with natural Ca (Canat) isotope which corresponds 350 g of Ca48. External backgrounds were rejected using a 4π active shield of a liquid scintillator surrounding the CaF2 crystals. The internal backgrounds caused by the radioactive impurities within the CaF2 crystals can be reduced effectively through analysis of the signal pulse shape. We analyzed the data obtained in the Kamioka underground for a live-time of 130.4 days to evaluate the feasibility of the low background measurement with the CANDLES-III detector. Using Monte Carlo simulations, we estimated the background rate from the radioactive impurities in the CaF2 crystals and the rate of high energy γ-rays caused by the (n,γ) reactions induced by environmental neutrons. The expected background rate was in a good agreement with the measured rate, i.e., approximately 10−3 events/keV/yr/(kg of Canat), in the 0νββ window. In conclusion, the background candidates were estimated properly by comparing the measured energy spectrum with the background simulations. With this measurement method, we performed the first search for 0νββ decay in a low background condition using a detector on the scale of hundreds of kg of nonenriched Ca. Deploying scintillators enriched in Ca48 will increase the sensitivity strongly. Ca48 has a high potential for use in 0νββ decay search, and is expected to be useful for the development of a next-generation detector for highly sensitive measurements.

Published
2021

12. Optic nerve head and retinal abnormalities associated with congenital fibrosis of the extraocular muscles

Author

Thomas, M.G., Maconachie, G.D.E., Kuht, H.J., Chan, W.-M., Sheth, V., Hisaund, M., McLean, R.J., Barry, B., Al-Diri, B., Proudlock, F.A., Tu, Z., Engle, E.C., and Gottlob, I.

Subjects
genetic structures, sense organs, eye diseases
Abstract

Congenital fibrosis of the extraocular muscles (CFEOM) is a congenital cranial dysinnervation disorder caused by developmental abnormalities affecting cranial nerves/nuclei innervating the extraocular muscles. Autosomal dominant CFEOM arises from heterozygous missense mutations of KIF21A or TUBB3. Although spatiotemporal expression studies have shown KIF21A and TUBB3 expression in developing retinal ganglion cells, it is unclear whether dysinnervation extends beyond the oculomotor system. We aimed to investigate whether dysinnervation extends to the visual system by performing high-resolution optical coherence tomography (OCT) scans characterizing retinal ganglion cells within the optic nerve head and retina. Sixteen patients with CFEOM were screened for mutations in KIF21A, TUBB3, and TUBB2B. Six patients had apparent optic nerve hypoplasia. OCT showed neuro-retinal rim loss. Disc diameter, rim width, rim area, and peripapillary nerve fiber layer thickness were significantly reduced in CFEOM patients compared to controls (p < 0.005). Situs inversus of retinal vessels was seen in five patients. Our study provides evidence of structural optic nerve and retinal changes in CFEOM. We show for the first time that there are widespread retinal changes beyond the retinal ganglion cells in patients with CFEOM. This study shows that the phenotype in CFEOM extends beyond the motor nerves.

Published
2021

23. Combined photodynamic therapy and intravitreal triamcinolone injection for the treatment of subfoveal choroidal neovascularisation in age related macular degeneration: a comparative study

Author

Chan, W.-M., Lai, T.Y.Y., Wong, A.L., Tong, J.-P., Liu, D.T.L., and Lam, D.S.C.

Subjects
Choroid -- Diseases, Neovascularization -- Care and treatment, Combined modality therapy -- Research, Triamcinolone -- Dosage and administration, Triamcinolone -- Research, Macular degeneration -- Care and treatment, Macular degeneration -- Complications and side effects, Photochemotherapy -- Patient outcomes, Cancer -- Photochemotherapy, Cancer -- Patient outcomes, Health
Published
2006

24. A Study on Energy Resolution of CANDLES Detector

Author

Khai, B. T., primary, Ajimura, S., additional, Chan, W. M., additional, Fushimi, K., additional, Hazama, R., additional, Hiraoka, H., additional, Iida, T., additional, Kanagawa, K., additional, Kino, H., additional, Kishimoto, T., additional, Maeda, T., additional, Nakajima, K., additional, Nomachi, M., additional, Ogawa, I., additional, Ohata, T., additional, Suzuki, K., additional, Takemoto, Y., additional, Takihira, Y., additional, Tamagawa, Y., additional, Tozawa, M., additional, Tsuzuki, M., additional, Umehara, S., additional, and Yoshida, S., additional

Published
2021
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28. Choroidal vascular remodelling in central serous chorioretinopathy after indocyanine green guided photodynamic therapy with verteporfin: a novel treatment at the primary disease level

Author

Chan, W-M., Lam, D.S.C., Lai, T.Y.Y., Tam, B.S.M., Liu, D.T.L., and Chan, C.K.M.

Subjects
Research, Eye diseases -- Research
Abstract

Aims: To evaluate the changes in the choroidal vasculature in central serous chorioretinopathy (CSC) after photodynamic therapy (PDT) with verteporfin and to assess its potential role as a treatment option. [...]

Published
2003

32. Modification of proteins from soymilk residue (okara) by trypsin

Author

Chan, W.-M. and Ma, C.-Y.

Subjects
Food research -- Research, Proteins -- Research, Soymilk -- By-products, Tofu -- By-products, Business, Food/cooking/nutrition
Abstract

Okara is a by-product of soymilk and tofu production and its disposal causes many environmental problems. Okara protein is low grade and has few nutritional benefits, but it can be treated chemically to make it more attractive as a food ingredient. A new study investigates the efficacy of enzyme hydrolysis as a means of improving the functional properties of okara protein isolates.

Published
1999

33. The energy calibration system for CANDLES using (n, ��) reaction

Author

Iida, T., Mizukoshi, K., Ohata, T., Uehara, T., Batpurev, T., Chan, W. M., Fushimi, K., Hazama, R., Ishikawa, M., Kakubata, H., Kanagawa, K., Katagiri, S., Khai, B. T., Kishimoto, T., Li, X., Maeda, T., Matsuoka, K., Morishita, K., Moser, M., Nakajima, K., Nomachi, M., Ogawa, I., Shokati, M., Suzuki, K., Takemoto, Y., Takihira, Y., Tamagawa, Y., Tetsuno, K., Trang, V. T. T., Umehara, S., and Yoshida, S.

Subjects
High Energy Physics - Experiment (hep-ex), Astrophysics::High Energy Astrophysical Phenomena, Astrophysics::Instrumentation and Methods for Astrophysics, FOS: Physical sciences, Instrumentation and Detectors (physics.ins-det), Nuclear Experiment (nucl-ex)
Abstract

CAlcium fluoride for the study of Neutrinos and Dark matters by Low-energy Spectrometer (CANDLES) searches for neutrino-less double beta decay of $^{48}$Ca using a CaF$_2$ scintillator array. A high Q-value of $^{48}$Ca at 4,272 keV enabled us to achieve very low background condition, however, at the same it causes difficulties in calibrating the detector's Q-value region because of the absence of a standard high-energy $��$-ray source. Therefore, we have developed a novel calibration system based on $��$-ray emission by neutron capture on $^{28}$Si, $^{56}$Fe and $^{58}$Ni nuclei. In the paper, we report the development of the new calibration system as well as the results of energy calibration in CANDLES up to 9 MeV., 6 pages, 7 figures

Published
2020
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35. CANDLES

Author

Umehara S., Kishimoto T., Nomachi M., Ajimura S., Nakatani N., Matsuoka K., Ichimura K., Saka M., Ishikawa T., Tanaka D., Tanaka M., Yoshida S., Suzuki K., Ito G., Kakubata H., Wang W., Takemoto J., Chan W. M., Doihara M., Tamagawa Y., Ogawa I., Ueno T., Maeda S., Yamamoto A., Tomita S., Fujita G., Kawamura A., Harada T., Fushimi K., Hazama R., Ohsumi H., and Okada K.

Subjects
Physics, QC1-999
Abstract

CANDLES is the project to search for neutrino-less double beta decay (0νββ) of 48Ca. The observation of 0νββ will prove existence of a massive Majorana neutrino. For the 0νββ measurement, we need a low background condition because of a low decay rate of 0νββ. Now we installed the CANDLES III system at the Kamioka underground laboratory. The CANDLES III system realizes the low background condition by a characteristic structure and data analyses for background rejection. Here we report performances of the CANDLES III system.

Published
2014
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39. Recurrent Rare Copy Number Variants Increase Risk for Esotropia

Author

Whitman, MC, Di Gioia, SA, Chan, W-M, Gelber, A, Pratt, BM, Bell, JL, Collins, TE, Knowles, JA, Armoskus, C, Pato, M, Pato, C, Shaaban, S, Staffieri, S, MacKinnon, S, Maconachie, GDE, Elder, JE, Traboulsi, EI, Gottlob, I, Mackey, DA, Hunter, DG, Engle, EC, Whitman, MC, Di Gioia, SA, Chan, W-M, Gelber, A, Pratt, BM, Bell, JL, Collins, TE, Knowles, JA, Armoskus, C, Pato, M, Pato, C, Shaaban, S, Staffieri, S, MacKinnon, S, Maconachie, GDE, Elder, JE, Traboulsi, EI, Gottlob, I, Mackey, DA, Hunter, DG, and Engle, EC

Abstract

PURPOSE: To determine whether rare copy number variants (CNVs) increase risk for comitant esotropia. METHODS: CNVs were identified in 1614 Caucasian individuals with comitant esotropia and 3922 Caucasian controls from Illumina SNP genotyping using two Hidden Markov model (HMM) algorithms, PennCNV and QuantiSNP, which call CNVs based on logR ratio and B allele frequency. Deletions and duplications greater than 10 kb were included. Common CNVs were excluded. Association testing was performed with 1 million permutations in PLINK. Significant CNVs were confirmed with digital droplet polymerase chain reaction (ddPCR). Whole genome sequencing was performed to determine insertion location and breakpoints. RESULTS: Esotropia patients have similar rates and proportions of CNVs compared with controls but greater total length and average size of both deletions and duplications. Three recurrent rare duplications significantly (P = 1 × 10-6) increase the risk of esotropia: chromosome 2p11.2 (hg19, 2:87428677-87965359), spanning one long noncoding RNA (lncRNA) and two microRNAs (OR 14.16; 95% confidence interval [CI] 5.4-38.1); chromosome 4p15.2 (hg19, 4:25554332-25577184), spanning one lncRNA (OR 11.1; 95% CI 4.6-25.2); chromosome 10q11.22 (hg19, 10:47049547-47703870) spanning seven protein-coding genes, one lncRNA, and four pseudogenes (OR 8.96; 95% CI 5.4-14.9). Overall, 114 cases (7%) and only 28 controls (0.7%) had one of the three rare duplications. No case nor control had more than one of these three duplications. CONCLUSIONS: Rare CNVs are a source of genetic variation that contribute to the genetic risk for comitant esotropia, which is likely polygenic. Future research into the functional consequences of these recurrent duplications may shed light on the pathophysiology of esotropia.

Published
2020

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