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1. Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice.

Author

Sheppard, S.E., Bryant, L., Wickramasekara, R.N., Vaccaro, C., Robertson, B., Hallgren, J., Hulen, J., Watson, C.J., Faundes, V., Duffourd, Y., Lee, P., Simon, M.C., Cruz, X. de la, Padilla, N., Flores-Mendez, M., Akizu, N., Smiler, J., Pellegrino Da Silva, R., Li, D., March, M., Diaz-Rosado, A., Peixoto de Barcelos, I., Choa, Z.X., Lim, C.Y., Dubourg, C., Journel, H., Demurger, F., Mulhern, M., Akman, C., Lippa, N., Andrews, M., Baldridge, D., Constantino, J., Haeringen, A. van, Snoeck-Streef, I., Chow, P., Hing, A., Graham Jr, J.M., Au, M., Faivre, L., Shen, W., Mao, R., Palumbos, J., Viskochil, D., Gahl, W., Tifft, C., Macnamara, E., Hauser, N., Miller, R., Maffeo, J., Afenjar, A., Doummar, D., Keren, B., Arn, P., Macklin-Mantia, S., Meerschaut, I., Callewaert, B., Reis, A., Zweier, C., Brewer, C., Saggar, A., Smeland, M.F., Kumar, Ajith, Elmslie, F., Deshpande, C., Nizon, M., Cogne, B., Ierland, Y. van, Wilke, M., Slegtenhorst, M. van, Koudijs, S., Chen, J.Y., Dredge, D., Pier, D., Wortmann, S.B., Kamsteeg, E.J., Koch, J., Haynes, D., Pollack, L., Titheradge, H., Ranguin, K., Denommé-Pichon, A.S., Weber, S., Perez de la Fuente, R., Sanchez Del Pozo, J., Lezana Rosales, J.M., Joset, P., Steindl, K., Rauch, A., Mei, D., Mari, F., Guerrini, R., Lespinasse, J., Tran Mau-Them, F., Philippe, C., Dauriat, B., Raymond, L., Moutton, S., Cueto-González, A.M., Tan, T.Y., Mignot, C., Grotto, S., Renaldo, F., Drivas, T.G., Hennessy, L., Raper, A., Parenti, I., Kaiser, F.J., Kuechler, A., Busk, Ø.L., Islam, L., Siedlik, J.A., Henderson, L.B., Juusola, J., Person, R., Schnur, R.E., Vitobello, A., Banka, S., Bhoj, E.J., Stessman, H.A.F., Sheppard, S.E., Bryant, L., Wickramasekara, R.N., Vaccaro, C., Robertson, B., Hallgren, J., Hulen, J., Watson, C.J., Faundes, V., Duffourd, Y., Lee, P., Simon, M.C., Cruz, X. de la, Padilla, N., Flores-Mendez, M., Akizu, N., Smiler, J., Pellegrino Da Silva, R., Li, D., March, M., Diaz-Rosado, A., Peixoto de Barcelos, I., Choa, Z.X., Lim, C.Y., Dubourg, C., Journel, H., Demurger, F., Mulhern, M., Akman, C., Lippa, N., Andrews, M., Baldridge, D., Constantino, J., Haeringen, A. van, Snoeck-Streef, I., Chow, P., Hing, A., Graham Jr, J.M., Au, M., Faivre, L., Shen, W., Mao, R., Palumbos, J., Viskochil, D., Gahl, W., Tifft, C., Macnamara, E., Hauser, N., Miller, R., Maffeo, J., Afenjar, A., Doummar, D., Keren, B., Arn, P., Macklin-Mantia, S., Meerschaut, I., Callewaert, B., Reis, A., Zweier, C., Brewer, C., Saggar, A., Smeland, M.F., Kumar, Ajith, Elmslie, F., Deshpande, C., Nizon, M., Cogne, B., Ierland, Y. van, Wilke, M., Slegtenhorst, M. van, Koudijs, S., Chen, J.Y., Dredge, D., Pier, D., Wortmann, S.B., Kamsteeg, E.J., Koch, J., Haynes, D., Pollack, L., Titheradge, H., Ranguin, K., Denommé-Pichon, A.S., Weber, S., Perez de la Fuente, R., Sanchez Del Pozo, J., Lezana Rosales, J.M., Joset, P., Steindl, K., Rauch, A., Mei, D., Mari, F., Guerrini, R., Lespinasse, J., Tran Mau-Them, F., Philippe, C., Dauriat, B., Raymond, L., Moutton, S., Cueto-González, A.M., Tan, T.Y., Mignot, C., Grotto, S., Renaldo, F., Drivas, T.G., Hennessy, L., Raper, A., Parenti, I., Kaiser, F.J., Kuechler, A., Busk, Ø.L., Islam, L., Siedlik, J.A., Henderson, L.B., Juusola, J., Person, R., Schnur, R.E., Vitobello, A., Banka, S., Bhoj, E.J., and Stessman, H.A.F.

Abstract

Item does not contain fulltext, Pathogenic variants in KMT5B, a lysine methyltransferase, are associated with global developmental delay, macrocephaly, autism, and congenital anomalies (OMIM# 617788). Given the relatively recent discovery of this disorder, it has not been fully characterized. Deep phenotyping of the largest (n = 43) patient cohort to date identified that hypotonia and congenital heart defects are prominent features that were previously not associated with this syndrome. Both missense variants and putative loss-of-function variants resulted in slow growth in patient-derived cell lines. KMT5B homozygous knockout mice were smaller in size than their wild-type littermates but did not have significantly smaller brains, suggesting relative macrocephaly, also noted as a prominent clinical feature. RNA sequencing of patient lymphoblasts and Kmt5b haploinsufficient mouse brains identified differentially expressed pathways associated with nervous system development and function including axon guidance signaling. Overall, we identified additional pathogenic variants and clinical features in KMT5B-related neurodevelopmental disorder and provide insights into the molecular mechanisms of the disorder using multiple model systems.

Published
2023

2. De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus

Author

Galosi, S., Edani, B.H., Martinelli, S., Hansikova, H., Eklund, E.A., Caputi, C., Masuelli, L., Corsten-Janssen, N., Srour, M., Oegema, R., Bosch, D.G.M., Ellis, C.A., Amlie-Wolf, L., Accogli, A., Atallah, I., Averdunk, L., Barañano, K.W., Bei, R., Bagnasco, I., Brusco, A., Demarest, S., Alaix, A.S., Bonaventura, C. Di, Distelmaier, F., Elmslie, F., Gan-Or, Z., Good, J.M., Gripp, K., Kamsteeg, E.J., Macnamara, E., Marcelis, C.L.M., Mercier, N., Peeden, J., Pizzi, S., Pannone, L., Shinawi, M., Toro, C., Verbeek, N.E., Venkateswaran, S., Wheeler, P.G., Zdrazilova, L., Zhang, R., Zorzi, G., Guerrini, R., Sessa, W.C., Lefeber, D.J., Tartaglia, M., Hamdan, F.F., Grabińska, K.A., Leuzzi, V., Galosi, S., Edani, B.H., Martinelli, S., Hansikova, H., Eklund, E.A., Caputi, C., Masuelli, L., Corsten-Janssen, N., Srour, M., Oegema, R., Bosch, D.G.M., Ellis, C.A., Amlie-Wolf, L., Accogli, A., Atallah, I., Averdunk, L., Barañano, K.W., Bei, R., Bagnasco, I., Brusco, A., Demarest, S., Alaix, A.S., Bonaventura, C. Di, Distelmaier, F., Elmslie, F., Gan-Or, Z., Good, J.M., Gripp, K., Kamsteeg, E.J., Macnamara, E., Marcelis, C.L.M., Mercier, N., Peeden, J., Pizzi, S., Pannone, L., Shinawi, M., Toro, C., Verbeek, N.E., Venkateswaran, S., Wheeler, P.G., Zdrazilova, L., Zhang, R., Zorzi, G., Guerrini, R., Sessa, W.C., Lefeber, D.J., Tartaglia, M., Hamdan, F.F., Grabińska, K.A., and Leuzzi, V.

Abstract

Item does not contain fulltext

Published
2022

5. KAT6A Syndrome

Author

Kennedy, J., Goudie, D., Blair, E., Chandler, K., Joss, S., McKay, V., Green, A., Armstrong, R., Lees, M., Kamien, B., Hopper, B., Tan, T.Y., Yap, P., Stark, Z., Okamoto, N., Miyake, N., Matsumoto, N., Macnamara, E., Murphy, J.L., McCormick, E., Hakonarson, H., Falk, M.J., Li, D., Blackburn, P., Klee, E., Babovic-Vuksanovic, D., Schelley, S., Hudgins, L., Kant, S., Isidor, B., Cogne, B., Bradbury, K., Williams, M., Patel, C., Heussler, H., Duff-Farrier, C., Lakeman, P., Scurr, I., Kini, U., Elting, M., Reijnders, M., Schuurs-Hoeijmakers, J., Wafik, M., Blomhoff, A., Ruivenkamp, C.A.L., Nibbeling, E., Dingemans, A.J.M., Douine, E.D., Nelson, S.F., Hempel, M., Bierhals, T., Lessel, D., Johannsen, J., Arboleda, V.A., Newbury-Ecob, R., and DDD Study

Abstract

An amendment to this paper has been published and can be accessed via a link at the top of the paper.

Published
2020

6. The founder mutation MSH2*1906G [right arrow] C is an important cause of hereditary nonpolyposis colorectal cancer in the Ashkenazi Jewish population

Author

Foulkes, W.D., Thiffault, I., Gruber, S.B., Horwitz, M., Hamel, N., Lee, C., Shia, J., Markowitz, A., Figer, A., Friedman, E., Farber, D., Greenwood, C.M. T., Bonner, J.D., Nafa, K., Walsh, T., Marcus, V., Tomsho, L., Gebert, J., Macrae, F.A., Gaff, C.L., Bressac-de Paillerets, B., Gregersen, P.K., Weitzel, J.N., Gordon, P.H., MacNamara, E., King, M.-C., Hampel, H., de la Chapelle, A., Boyd, J., Offit, K., Rennert, G., Chong, G., and Ellis, N.A.

Subjects
Colorectal cancer -- Genetic aspects, Genetic disorders -- Research, Familial diseases -- Research, Gene mutations -- Health aspects, Ashkenazim -- Genetic aspects, Ashkenazim -- Diseases, Biological sciences
Published
2002

8. De Novo Mutations Affecting the Catalytic Calpha Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders

Author

Reynhout, S., Jansen, S, Haesen, D., Belle, S. van, Munnik, S.A. de, Bongers, E.M.H.F., Schieving, J.H., Marcelis, C.L., Amiel, J., Rio, M. del, McLaughlin, H., Ladda, R., Sell, S., Kriek, M., Peeters-Scholte, C., Terhal, P.A., Gassen, K.L.I. van, Verbeek, N., Henry, S., Schwoerer, J. Scott, Malik, S., Revencu, N., Ferreira, C.R., Macnamara, E., Braakman, H.M., Brimble, E., Ruzhnikov, M.R.Z., Wagner, M., Harrer, P., Wieczorek, D., Kuechler, A., Tziperman, B., Barel, O., Vries, B.B. de, Gordon, C.T., Janssens, V., Vissers, L.E.L.M., Reynhout, S., Jansen, S, Haesen, D., Belle, S. van, Munnik, S.A. de, Bongers, E.M.H.F., Schieving, J.H., Marcelis, C.L., Amiel, J., Rio, M. del, McLaughlin, H., Ladda, R., Sell, S., Kriek, M., Peeters-Scholte, C., Terhal, P.A., Gassen, K.L.I. van, Verbeek, N., Henry, S., Schwoerer, J. Scott, Malik, S., Revencu, N., Ferreira, C.R., Macnamara, E., Braakman, H.M., Brimble, E., Ruzhnikov, M.R.Z., Wagner, M., Harrer, P., Wieczorek, D., Kuechler, A., Tziperman, B., Barel, O., Vries, B.B. de, Gordon, C.T., Janssens, V., and Vissers, L.E.L.M.

Abstract

Contains fulltext : 202645.pdf (publisher's version ) (Open Access), Type 2A protein phosphatases (PP2As) are highly expressed in the brain and regulate neuronal signaling by catalyzing phospho-Ser/Thr dephosphorylations in diverse substrates. PP2A holoenzymes comprise catalytic C-, scaffolding A-, and regulatory B-type subunits, which determine substrate specificity and physiological function. Interestingly, de novo mutations in genes encoding A- and B-type subunits have recently been implicated in intellectual disability (ID) and developmental delay (DD). We now report 16 individuals with mild to profound ID and DD and a de novo mutation in PPP2CA, encoding the catalytic Calpha subunit. Other frequently observed features were severe language delay (71%), hypotonia (69%), epilepsy (63%), and brain abnormalities such as ventriculomegaly and a small corpus callosum (67%). Behavioral problems, including autism spectrum disorders, were reported in 47% of individuals, and three individuals had a congenital heart defect. PPP2CA de novo mutations included a partial gene deletion, a frameshift, three nonsense mutations, a single amino acid duplication, a recurrent mutation, and eight non-recurrent missense mutations. Functional studies showed complete PP2A dysfunction in four individuals with seemingly milder ID, hinting at haploinsufficiency. Ten other individuals showed mutation-specific biochemical distortions, including poor expression, altered binding to the A subunit and specific B-type subunits, and impaired phosphatase activity and C-terminal methylation. Four were suspected to have a dominant-negative mechanism, which correlated with severe ID. Two missense variants affecting the same residue largely behaved as wild-type in our functional assays. Overall, we found that pathogenic PPP2CA variants impair PP2A-B56(delta) functionality, suggesting that PP2A-related neurodevelopmental disorders constitute functionally converging ID syndromes.

Published
2019

14. Proposed Medical Branch Of The Navy League

Author

Clayton-Greene, W. H., Cheatle, G. Lenthal, Craig, Maurice, Fawcett, John, Fripp, Alfred D., Herringham, W. P., Latham, Arthur, Lister, W. T., Macnamara, E. D., Pendlebury, Herbert S., Rigby, Hugh M., Russell, J. Risien, Smith, Lewis, Smith, R. Percy, Swainson, J. M. G., Thomson, H. Campbell, and Turney, H. G.

Published
1910

19. An early-onset breast and colorectal cancer-prone family: Does a specific hereditary breast and colorectal cancer syndrome exist?

Author

Thiffault, I., Pal, T., Hamel, N., Deschenes, J., Marcus, V., Odefrey, F., Watters, K., Graham, T., Meschino, W., Narod, S., Goldgar, D., Farber, D., MacNamara, E., Chong, G., and Foulkes, W.

Subjects
Human genetics -- Research, Genetic disorders -- Research, Colorectal cancer -- Genetic aspects, Breast cancer -- Genetic aspects, Biological sciences
Published
2001

20. A founder mutation in MSH2 in the Ashkenazim

Author

Foulkes, W.D., Thiffault, I, Farber, D., Gruber, S.B., Tomsho, L., Rennert, G., Horwitz, M., Walsh, T., King, M.-C., Ellis, N., Offit, K., Bressac-de Paillerets, B., Grandjouan, S., Weitzel, J., Fujimura, F., Gordon, P.H., MacNamara, E., Marcus, V., and Chong, G.

Subjects
Human genetics -- Research, Ashkenazim -- Physiological aspects, Genetic disorders -- Research, Biological sciences
Published
2001

22. List of Abbreviations

Author

Isserlin, B. S. J., primary, du Plat Taylor, Joan, additional, Coldstream, N., additional, Collins, W. E., additional, Evans, G., additional, Macnamara, E., additional, Nuttall, C. P., additional, Oram, G., additional, Pike, E., additional, Pike, H. M. H., additional, Tagg, G. F., additional, Waechter, J., additional, Western, C., additional, and Wilkinson, C., additional

Published
1974
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23. General Index

Author

Isserlin, B. S. J., primary, du Plat Taylor, Joan, additional, Coldstream, N., additional, Collins, W. E., additional, Evans, G., additional, Macnamara, E., additional, Nuttall, C. P., additional, Oram, G., additional, Pike, E., additional, Pike, H. M. H., additional, Tagg, G. F., additional, Waechter, J., additional, Western, C., additional, and Wilkinson, C., additional

Published
1974
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24. Bibliography

Author

Isserlin, B. S. J., primary, du Plat Taylor, Joan, additional, Coldstream, N., additional, Collins, W. E., additional, Evans, G., additional, Macnamara, E., additional, Nuttall, C. P., additional, Oram, G., additional, Pike, E., additional, Pike, H. M. H., additional, Tagg, G. F., additional, Waechter, J., additional, Western, C., additional, and Wilkinson, C., additional

Published
1974
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25. List of Plans and Sections

Author

Isserlin, B. S. J., primary, du Plat Taylor, Joan, additional, Coldstream, N., additional, Collins, W. E., additional, Evans, G., additional, Macnamara, E., additional, Nuttall, C. P., additional, Oram, G., additional, Pike, E., additional, Pike, H. M. H., additional, Tagg, G. F., additional, Waechter, J., additional, Western, C., additional, and Wilkinson, C., additional

Published
1974
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26. Appendices

Author

Isserlin, B. S. J., primary, du Plat Taylor, Joan, additional, Coldstream, N., additional, Collins, W. E., additional, Evans, G., additional, Macnamara, E., additional, Nuttall, C. P., additional, Oram, G., additional, Pike, E., additional, Pike, H. M. H., additional, Tagg, G. F., additional, Waechter, J., additional, Western, C., additional, and Wilkinson, C., additional

Published
1974
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27. Preliminary Material

Author

Isserlin, B. S. J., primary, du Plat Taylor, Joan, additional, Coldstream, N., additional, Collins, W. E., additional, Evans, G., additional, Macnamara, E., additional, Nuttall, C. P., additional, Oram, G., additional, Pike, E., additional, Pike, H. M. H., additional, Tagg, G. F., additional, Waechter, J., additional, Western, C., additional, and Wilkinson, C., additional

Published
1974
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28. List of Figures in Text

Author

Isserlin, B. S. J., primary, du Plat Taylor, Joan, additional, Coldstream, N., additional, Collins, W. E., additional, Evans, G., additional, Macnamara, E., additional, Nuttall, C. P., additional, Oram, G., additional, Pike, E., additional, Pike, H. M. H., additional, Tagg, G. F., additional, Waechter, J., additional, Western, C., additional, and Wilkinson, C., additional

Published
1974
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29. List of Participants

Author

Isserlin, B. S. J., primary, du Plat Taylor, Joan, additional, Coldstream, N., additional, Collins, W. E., additional, Evans, G., additional, Macnamara, E., additional, Nuttall, C. P., additional, Oram, G., additional, Pike, E., additional, Pike, H. M. H., additional, Tagg, G. F., additional, Waechter, J., additional, Western, C., additional, and Wilkinson, C., additional

Published
1974
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30. Key to Layer Numbers used in Sections or Plans IV–XI (South Gate) and in Sections or Plans XII–XIV (North Gate)

Author

Isserlin, B. S. J., primary, du Plat Taylor, Joan, additional, Coldstream, N., additional, Collins, W. E., additional, Evans, G., additional, Macnamara, E., additional, Nuttall, C. P., additional, Oram, G., additional, Pike, E., additional, Pike, H. M. H., additional, Tagg, G. F., additional, Waechter, J., additional, Western, C., additional, and Wilkinson, C., additional

Published
1974
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31. List of Donors and Contributors

Author

Isserlin, B. S. J., primary, du Plat Taylor, Joan, additional, Coldstream, N., additional, Collins, W. E., additional, Evans, G., additional, Macnamara, E., additional, Nuttall, C. P., additional, Oram, G., additional, Pike, E., additional, Pike, H. M. H., additional, Tagg, G. F., additional, Waechter, J., additional, Western, C., additional, and Wilkinson, C., additional

Published
1974
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32. Preface

Author

Isserlin, B. S. J., primary, du Plat Taylor, Joan, additional, Coldstream, N., additional, Collins, W. E., additional, Evans, G., additional, Macnamara, E., additional, Nuttall, C. P., additional, Oram, G., additional, Pike, E., additional, Pike, H. M. H., additional, Tagg, G. F., additional, Waechter, J., additional, Western, C., additional, and Wilkinson, C., additional

Published
1974
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34. Germline truncating mutations in both MSH2 and BRCA2 in a single kindred.

Author

Thiffault, I, Hamel, N, Pal, T, McVety, S, Marcus, VA, Farber, D, Cowie, S, Deschênes, J, Meschino, W, Odefrey, F, Goldgar, D, Graham, T, Narod, S, Watters, AK, MacNamara, E, Du Sart, D, Chong, G, Foulkes, WD, Thiffault, I, Hamel, N, Pal, T, McVety, S, Marcus, VA, Farber, D, Cowie, S, Deschênes, J, Meschino, W, Odefrey, F, Goldgar, D, Graham, T, Narod, S, Watters, AK, MacNamara, E, Du Sart, D, Chong, G, and Foulkes, WD

Abstract

There has been interest in the literature in the possible existence of a gene that predisposes to both breast cancer (BC) and colorectal cancer (CRC). We describe the detailed characterisation of one kindred, MON1080, with 10 cases of BC or CRC invasive cancer among 26 first-, second- or third-degree relatives. Linkage analysis suggested that a mutation was present in BRCA2. DNA sequencing from III: 22 (diagnosed with lobular BC) identified a BRCA2 exon 3 542G>T (L105X) mutation. Her sister (III: 25) had BC and endometrial cancer and carries the same mutation. Following immunohistochemical and microsatellite instability studies, mutation analysis by protein truncation test, cDNA sequencing and quantitative real-time PCR revealed a deletion of MSH2 exon 8 in III: 25, confirming her as a double heterozygote for truncating mutations in both BRCA2 and MSH2. The exon 8 deletion was identified as a 14.9 kb deletion occurring between two Alu sequences. The breakpoint lies within a sequence of 45 bp that is identical in both Alu sequences. In this large BC/CRC kindred, MON1080, disease-causing truncating mutations are present in both MSH2 and BRCA2. There appeared to be no increased susceptibility to the development of colorectal tumours in BRCA2 mutation carriers or to the development of breast tumours in MSH2 mutation carriers. Additionally, two double heterozygotes did not appear to have a different phenotype than would be expected from the presence of a mutation in each gene alone.

Published
2004

35. Logic is not the truest guide' - R.S. Ross: Rationalism, Vision and Socialism in the Evolution of a Labour Editor

Author

Macnamara, E R and Macnamara, E R

Abstract

Whether the cup with sweet or bitter run, The Wine of Life keeps oozing drop by drop, The Leaves of Life keep falling one by one. Robert Samuel Ross, was born in 1873 and raised in Brisbane. A printer's son, a printer's apprentice, he went to work at seventeen. On his twenty-first birthday his journal records a solemn promise: 'Now I must commence to take life seriously .... One must have some knowledge in life. Get knowledge, for knowledge is power!' 1 The next year, at the age of twenty two, he became a founding member of the Australian Socialist League with Ernie Lane. At twenty five he read the 'The Rubaiyat of Omar Khayyam' .... Myselfwhen young did eagerly frequent Doctor and Saint, and heard great argument. .. With them the seed of Wisdom did I sow, And with mine own hand wrought to make it grow; And this was all the Harvest that I reaped- "I came like Water, and like Wind I go."

Published
1999

36. Germline truncating mutations in both MSH2 and BRCA2 in a single kindred

Author

Thiffault, I, primary, Hamel, N, additional, Pal, T, additional, McVety, S, additional, Marcus, V A, additional, Farber, D, additional, Cowie, S, additional, Deschênes, J, additional, Meschino, W, additional, Odefrey, F, additional, Goldgar, D, additional, Graham, T, additional, Narod, S, additional, Watters, A K, additional, MacNamara, E, additional, Sart, D Du, additional, Chong, G, additional, and Foulkes, W D, additional

Published
2004
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37. The Founder Mutation MSH2*1906G→C Is an Important Cause of Hereditary Nonpolyposis Colorectal Cancer in the Ashkenazi Jewish Population

Author

Foulkes, W.D., primary, Thiffault, I., additional, Gruber, S.B., additional, Horwitz, M., additional, Hamel, N., additional, Lee, C., additional, Shia, J., additional, Markowitz, A., additional, Figer, A., additional, Friedman, E., additional, Farber, D., additional, Greenwood, C. M.T., additional, Bonner, J.D., additional, Nafa, K., additional, Walsh, T., additional, Marcus, V., additional, Tomsho, L., additional, Gebert, J., additional, Macrae, F.A., additional, Gaff, C.L., additional, Paillerets, B. Bressac-de, additional, Gregersen, P.K., additional, Weitzel, J.N., additional, Gordon, P.H., additional, MacNamara, E., additional, King, M.-C., additional, Hampel, H., additional, de la Chapelle, A., additional, Boyd, J., additional, Offit, K., additional, Rennert, G., additional, Chong, G., additional, and Ellis, N.A., additional

Published
2002
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38. Does a sample for peripheral serum lactate need to be taken without a tourniquet?

Author

Segal, E., MacNamara, E., and Afilalo, M.

Subjects
Lactates -- Analysis, Health, Health care industry, Science and technology
Abstract

Introduction: Peripheral venous lactate is routinely acquired by venipuncture without a tourniquet, despite little support for this practice in the literature. Taking samples without a tourniquet is often more time-consuming and painful for the patient. Our objective was to determine whether peripheral venous lactate acquired with or without a tourniquet are equivalent. Methods: All emergency department (ED) patients requiring a lactate during a 6-month period were studied. ED nurses collected a sample of blood without a tourniquet for lactate analysis according to the accepted standard (T-). A second sample sent for electrolytes was taken with a tourniquet. This also had lactate measured (T + ). Both samples were obtained as closely together as possible and both serum lactates (mmol/L) were measured on the same analyzer. Determination of equivalency was made using 2 methods: mean difference (T + -T-) within 0 [+ or -] 0.5; and mean ratio (T + :T-) within 100% [+ or -] 10%. Subgroup analyses were performed on patients with lactate < 2 and [greater than or equal to] 2. Summary statistics and 95% confidence intervals were calculated. Results: In total, 629 paired samples were analyzed, 445 samples < 2 and 184 [greater than or equal to] 2. The mean of the differences of all paired samples is 0.04 (95% CI 0.02-0.06). The mean ratio is 1.03 (95% CI 0.97-1.09). The powers for the 2 tests are 99% and 83% respectively. Subgroup analyses showed similar results. Using the mean difference method, equivalency was seen in 98% of the < 2 group, 95% of the [greater than or equal to] 2 group and 97% overall. Using the mean ratio method, equivalency was seen in 61% of the < 2 group, 83% of the [greater than or equal to] 2 group and 68% overall. Conclusion: The results demonstrate a high degree of equivalency, greater using the mean difference of 0.5 as compared to the 10% difference in ratio. Lactate acquired with a tourniquet can be used in place of a lactate acquired without a tourniquet, without a clinically significant difference in results. Keywords: serum lactate, tourniquet, venipuncture

Published
2009

43. WHITE CARDS/BLACK FEATHERS: THE POLITICAL GETS PERSONAL - BROKEN HILL, 1915.

Author

Macnamara, E. R.

Abstract

Recounts a paradoxical incident in the labor history of the frontier town of Broken Hill, Australia, in 1915, when two women, one the operator of a cafe, being in dispute with local union organizers, resorted to violence against a union leader, whipping, and then tarring and feathering him. In spite of clear evidence and their own admission, the women were found not guilty of all charges by a jury. The presence of many working women with an acknowledged right to work in this instance combined with a strong chivalric ethic to permit the women to violate normal female behavior in the interests of justice.

Published
1999
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44. Provision of leucocyte poor blood at the bedside.

Author

MacNamara, E, Clarke, S, and McCann, S R

Abstract

The Imugard IG 500 cotton wool filter and the Cellselect cellulose acetate filter were adapted for filtration of leucocytes from packed cell transfusions at the bedside. Sixty five transfusions were given via the Imugard IG 500 filter and 54 transfusions were given via the Cellselect filter. Packed red cell concentrates from the National Blood Transfusion Service provided for routine blood transfusions were used in all cases. No patient in either group of multitransfused patients experienced a febrile blood transfusion reaction during the study. The Imugard IG 500 removed 91% +/- 9 (SEM) leucocytes; the Cellselect removed 96% +/- 7 (SEM) leucocytes. In the Imugard IG 500 group one patient received greater than 0.5 X 10(9) leucocytes. In the Imugard IG 500 group one patient received greater than 0.5 X 10(9) leucocytes, but no patient in the Cellselect group received greater than 0.5 X 10(9) leucocytes in any single transfusion. This is a safe method of providing leucocyte poor blood at the bedside. [ABSTRACT FROM PUBLISHER]

Published
1984

47. Adequacy Targets Can be Met in Anuric Patients by Automated Peritoneal Dialysis: Baseline Data from Eapos

Author

Brown, Edwina A., Davies, Simon J., Heimbürger, Olof, Meeus, Frederique, Mellotte, George, Rosman, Johan, Rutherford, Peter, Van Bree, Monique, Borras, M., Brown, E., Caillette–Beaudoin, A., Clutterbuck, E., Davies, S., D'Auzac, C., Ekstrand, A., Frandsen, N.E., Freida, P., Heimbürger, O., Kuypers+, D., Gasthuisberg+, A.Z., Mactier, R., MacNamara, E., Malmsten, G., Mastrangelo, F., Meeus, F., Melotte, G.J., Perez–Contreras, J., Riegel, W., Rodrigues, A.S., Rodriguez–Carmona, A., Rosman, J., Rutherford, P., Scanziani, R., Vega Diaz, N., Vychytil, A., and Weinreich, T.

Abstract

♦ Objective Conventional continuous ambulatory peritoneal dialysis (CAPD) in patients without residual renal function and with high solute transport is associated with worse clinical outcomes. Automated peritoneal dialysis (APD) has the potential to improve both solute clearance and ultrafiltration in these circumstances, but its efficacy as a treatment modality is unknown. The European Automated Peritoneal Dialysis Outcomes Study (EAPOS) is a 2-year, prospective, European multi-center study designed to determine APD feasibility and clinical outcomes in anuric patients. The present article describes the baseline data for patients recruited into the study.♦ Design All PD patients treated in the participating centers were screened for inclusion criteria [urinary output < 100 mL/24 h, or residual renal function (RRF) < 1 mL/min, or both]. After enrollment, changes were made to the dialysis prescription to achieve a weekly creatinine clearance above 60 L per 1.73 m2and an ultrafiltration rate above 750 mL in 24 hours.♦ Setting The study is being conducted in 26 dialysis centers in 13 European countries.♦ Baseline Data Collection The information collected includes patient demographics, dialysis prescription, achieved weekly creatinine clearance, and 24-hour ultra-filtration (UF).♦ Results The study enrolled 177 anuric patients. Median dialysis duration before enrollment was 22.5 months (range: 0 – 285 months). Mean solute transport measured as the dialysate-to-plasma ratio of creatinine (D/PCr) was 0.74 ± 0.12. Patients received APD for a median of 9.0 hours overnight (range: 7 – 12 hours) using a median of 11.0 L of fluid (range: 6 – 28.75 L). Median daytime volume was 4.0 L (range: 0.0 – 9.0 L). Tidal dialysis was used in 26 patients, and icodextrin in 86 patients. At baseline, before treatment optimization, the weekly mean total creatinine clearance was 65.2 ± 14.4 L/1.73 m2, with 105 patients (60%) achieving the target of more than 60 L/1.73 m2. At baseline, 81% of patients with high transport, 69% with high-average transport, and 40% with low-average transport met the target. At baseline, 70% of patients with a body surface area (BSA) below 1.7 m2, 60% with a BSA of 1.7 – 2.0 m2, and 56% with a BSA above 2.0 m2achieved 60 L/1.73 m2weekly. Median UF was 1090 mL/24 h, and 75% of patients achieved the UF target of more than 750 mL/24 h.♦ Conclusion This baseline analysis of anuric patients recruited into the EAPOS study demonstrates that a high proportion of anuric patients on APD can achieve dialysis and ultrafiltration targets using a variety of regimes. This 2-year follow-up study aims to optimize APD prescription to reach predefined clearance and ultrafiltration targets, and to observe the resulting clinical outcomes.

Published
2001
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48. Variable Temperature Study of the Cross-Relaxation Dynamics in the Hyperpolarized Xenon-Induced Enhancement of Surface Nuclei

Author

Smith, L. J., Smith, J., MacNamara, E., Knagge, K., and Raftery, D.

Abstract

The cross-relaxation rate constants for a three spin system involving hyperpolarized 129Xe, 13C, and 1H nuclei have been determined over a wide temperature range (136−216 K) through observation of the polarization enhancements from spin polarization induced nuclear Overhauser effect (SPINOE) experiments. A model system of methoxy groups adsorbed on high surface area silica was studied. A maximum polarization enhancement of 3.4 was observed for the methoxy carbon. Xenon−carbon and xenon−proton cross-relaxation were found to be dependent on both the xenon coverage and xenon diffusion across the silica surface. The temperature dependence of the cross-relaxation rate constants was effectively fit using a hopping model. Possible improvements for the SPINOE experiment are suggested including alternative substrates which would retard xenon diffusion across the surface and improve xenon−carbon cross-relaxation leading to significantly larger SPINOE enhancements.

Published
2001

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