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732 results on '"McMullan D"'

105. The clinical utility of genetic testing of tissues from pregnancy losses.

Author

Waterman, C. A., Batstone, P., Bown, N., Cresswell, L., Delmege, C., English, C. J., Fews, G., Grimsley, L., Imrie, S., Kulkarni, A., Mann, K., Johnson, R., Morgan, S. M., Roberts, P., Simonic, I., Trueman, S., Wall, M., and McMullan, D.

Subjects
MISCARRIAGE, RECURRENT miscarriage, GENETIC testing, GENETIC disorders in pregnancy, TISSUE testing, GENETICS, ANEUPLOIDY, AUDITING, CHROMOSOME abnormalities, FETUS, RETROSPECTIVE studies
Abstract

Objective: To map the current testing being undertaken following pregnancy loss across the UK and to examine the clinical utility in terms of identifying a cause for the loss and in identifying couples at risk of an unbalanced liveborn child.Design: Retrospective audit.Setting: UK, for the year 2014.Population: An audit of 6465 referrals for genetic testing of tissue samples following pregnancy loss.Methods: Data were obtained by questionnaire from 15 UK regional genetics laboratories.Main Outcome Measures: Data were analysed with respect to gestational age, the presence of identified fetal anomalies, methodologies used, abnormality rates and the presence of a parental balanced rearrangement.Results: Of 6465 referrals a genetic cause was identified in 22% of cases (before 12 weeks' gestation, in 47%; at 12-24 weeks, in 14%; after 24 weeks, in 6%). In 0.4% of cases a balanced parental rearrangement was identified where there was a risk of an affected liveborn child in a future pregnancy. Eighty percent of genetic imbalances identified were aneuploidy or triploidy and could be identified by quantitative fluorescence polymerase chain reaction alone. There was significant variation across the UK in acceptance criteria, testing strategies and thus level of resolution of testing.Conclusions: Genetic testing of tissues following pregnancy loss identifies a probable cause of fetal demise in 22% of cases, but it is of low clinical utility in identifying couples at risk of a future unbalanced liveborn child. A comprehensive multidisciplinary review is needed to develop proposals for an affordable and equitable service.Tweetable Abstract: UK audit of genetic testing of fetal loss shows variation in access to and resolution of analysis. [ABSTRACT FROM AUTHOR]

Published
2018
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106. Functional and structural characterization of a thermostable acetyl esterase from Thermotoga maritima

Author

Levisson, M, Han, G, Deller, M, Xu, Q, Biely, P, Hendriks, S, Ten Eyck, L, Flensburg, C, Roversi, P, Miller, MD, McMullan, D, von Delft, F, Kreusch, A, Deacon, A, van der Oost, J, Lesley, SA, Elsliger, M, Kengen, S, and Wilson, I

Subjects
Models, Molecular, Hot Temperature, Protein Conformation, Catalytic Domain, Enzyme Stability, Serine, Reproducibility of Results, Acetylesterase, Computer Simulation, Thermotoga maritima, Hydrogen-Ion Concentration, Crystallography, X-Ray, Article
Abstract

TM0077 from Thermotoga maritima is a member of the carbohydrate esterase family 7 and is active on a variety of acetylated compounds, including cephalosporin C. TM0077 esterase activity is confined to short-chain acyl esters (C2-C3), and is optimal around 100°C and pH 7.5. The positional specificity of TM0077 was investigated using 4-nitrophenyl-β-D-xylopyranoside monoacetates as substrates in a β-xylosidase-coupled assay. TM0077 hydrolyzes acetate at positions 2, 3, and 4 with equal efficiency. No activity was detected on xylan or acetylated xylan, which implies that TM0077 is an acetyl esterase and not an acetyl xylan esterase as currently annotated. Selenomethionine-substituted and native structures of TM0077 were determined at 2.1 and 2.5 Å resolution, respectively, revealing a classic α/β-hydrolase fold. TM0077 assembles into a doughnut-shaped hexamer with small tunnels on either side leading to an inner cavity, which contains the six catalytic centers. Structures of TM0077 with covalently bound phenylmethylsulfonyl fluoride and paraoxon were determined to 2.4 and 2.1 Å, respectively, and confirmed that both inhibitors bind covalently to the catalytic serine (Ser188). Upon binding of inhibitor, the catalytic serine adopts an altered conformation, as observed in other esterase and lipases, and supports a previously proposed catalytic mechanism in which Ser hydroxyl rotation prevents reversal of the reaction and allows access of a water molecule for completion of the reaction. © 2012 Wiley Periodicals, Inc.

Published
2012

113. Preface

Author

Morgan, B.L., primary, Mcmullan, D., additional, and Atrey, R.W., additional

Published
1976
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119. Preface

Author

McGee, J.D., primary, McMullan, D., additional, and Kahan, E., additional

Published
1966
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122. Preface

Author

McGee, J.D., primary, McMullan, D., additional, and Kahan, E., additional

Published
1972
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123. Preface

Author

McGee, J.D., primary, McMullan, D., additional, Kahan, E., additional, and Morgan, B.L., additional

Published
1969
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125. Foreword

Author

Mcgee, J.D., primary, McMullan, D., additional, Kahan, E., additional, and Morgan, B.L., additional

Published
1969
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127. Crystal structure of a putative glutamine amido transferase (TM1158) from Thermotoga maritima at 1.7 A resolution

Author

Schwarzenbacher, R, Deacon, AM, Jaroszewski, L, Brinen, LS, Canaves, JM, Dai, X, Elsliger, MA, Floyd, R, Godzik, A, Grittini, C, Grzechnik, SK, Klock, HE, Koesema, E, Kovarik, JS, Kreusch, A, Kuhn, P, Lesley, SA, McMullan, D, McPhillips, TM, Miller, MD, Morse, A, Moy, K, Nelson, MS, Ouyang, J, Page, R, Robb, A, Quijano, K, Spraggon, G, Stevens, RC, van den Bedem, H, Velasquez, J, Vincent, J, von Delft, F, Wang, X, West, B, Wolf, G, Hodgson, KO, Wooley, J, and Wilson, IA

Subjects
Models, Molecular, Protein Conformation, Molecular Sequence Data, Reproducibility of Results, Thermotoga maritima, Amino Acid Sequence, Crystallography, X-Ray
Published
2004

131. Reply

Author

Kilby, M., primary, Hillman, S., additional, Maher, E., additional, and McMullan, D., additional

Published
2014
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133. Combined heart-kidney transplant improves post-transplant survival compared with isolated heart transplant in recipients with reduced glomerular filtration rate: Analysis of 593 combined heart-kidney transplants from the United Network Organ Sharing Database

Author

Karamlou, Tara, primary, Welke, Karl F., additional, McMullan, D. Michael, additional, Cohen, Gordon A., additional, Gelow, Jill, additional, Tibayan, Frederick A., additional, Mudd, James M., additional, Slater, Matthew S., additional, and Song, Howard K., additional

Published
2014
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134. The effect of acetaminophen on post-exercise IL-6 levels in human Achilles peritendinous tissue

Author

Gump, Brian, McMullan, D., Cauthon, D., Moore, M. S., Whitt, J. A., Tedeschi, J., Del Mundo, J., Letham, T., Friedlander, G., Kim, P. J., Pingel, J., Langberg, H., Carroll, C. C., Gump, Brian, McMullan, D., Cauthon, D., Moore, M. S., Whitt, J. A., Tedeschi, J., Del Mundo, J., Letham, T., Friedlander, G., Kim, P. J., Pingel, J., Langberg, H., and Carroll, C. C.

Published
2011

135. The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype.

Author

Bon, B.W.M. van, Koolen, D.A., Brueton, L., McMullan, D., Lichtenbelt, K.D., Ades, L.C., Peters, G., Gibson, K., Moloney, S., Novara, F., Pramparo, T., Bernardina, B. Dalla, Zoccante, L., Balottin, U., Piazza, F., Pecile, V., Gasparini, P., Guerci, V., Kets, M., Pfundt, R., Brouwer, A.P.M. de, Veltman, J.A., Leeuw, N. de, Wilson, M., Antony, J., Reitano, S., Luciano, D., Fichera, M., Romano, C, Brunner, H.G., Zuffardi, O., Vries, L.B.A. de, Bon, B.W.M. van, Koolen, D.A., Brueton, L., McMullan, D., Lichtenbelt, K.D., Ades, L.C., Peters, G., Gibson, K., Moloney, S., Novara, F., Pramparo, T., Bernardina, B. Dalla, Zoccante, L., Balottin, U., Piazza, F., Pecile, V., Gasparini, P., Guerci, V., Kets, M., Pfundt, R., Brouwer, A.P.M. de, Veltman, J.A., Leeuw, N. de, Wilson, M., Antony, J., Reitano, S., Luciano, D., Fichera, M., Romano, C, Brunner, H.G., Zuffardi, O., and Vries, L.B.A. de

Abstract

1 februari 2010, Contains fulltext : 89008.pdf (publisher's version ) (Closed access), Six submicroscopic deletions comprising chromosome band 2q23.1 in patients with severe mental retardation (MR), short stature, microcephaly and epilepsy have been reported, suggesting that haploinsufficiency of one or more genes in the 2q23.1 region might be responsible for the common phenotypic features in these patients. In this study, we report the molecular and clinical characterisation of nine new 2q23.1 deletion patients and a clinical update on two previously reported patients. All patients were mentally retarded with pronounced speech delay and additional abnormalities including short stature, seizures, microcephaly and coarse facies. The majority of cases presented with stereotypic repetitive behaviour, a disturbed sleep pattern and a broad-based gait. These features led to the initial clinical impression of Angelman, Rett or Smith-Magenis syndromes in several patients. The overlapping 2q23.1 deletion region in all 15 patients comprises only one gene, namely, MBD5. Interestingly, MBD5 is a member of the methyl CpG-binding domain protein family, which also comprises MECP2, mutated in Rett's syndrome. Another gene in the 2q23.1 region, EPC2, was deleted in 12 patients who had a broader phenotype than those with a deletion of MBD5 only. EPC2 is a member of the polycomb protein family, involved in heterochromatin formation and might be involved in causing MR. Patients with a 2q23.1 microdeletion present with a variable phenotype and the diagnosis should be considered in mentally retarded children with coarse facies, seizures, disturbed sleeping patterns and additional specific behavioural problems.

Published
2010

136. Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome.

Author

Aa, N. van der, Rooms, L., Vandeweyer, G., Ende, J.J. van den, Reyniers, E., Fichera, M., Romano, C, Chiaie, B. Delle, Mortier, G., Menten, B., Destree, A., Maystadt, I., Mannik, K., Kurg, A., Reimand, T., McMullan, D., Oley, C., Brueton, L., Bongers, E.M.H.F., Bon, B.W.M. van, Pfundt, R.P., Jacquemont, S., Ferrarini, A., Martinet, D., Schrander-Stumpel, C.T.R.M., Stegmann, A.P., Frints, S.G., Vries, L.B.A. de, Ceulemans, B., Kooy, R.F., Aa, N. van der, Rooms, L., Vandeweyer, G., Ende, J.J. van den, Reyniers, E., Fichera, M., Romano, C, Chiaie, B. Delle, Mortier, G., Menten, B., Destree, A., Maystadt, I., Mannik, K., Kurg, A., Reimand, T., McMullan, D., Oley, C., Brueton, L., Bongers, E.M.H.F., Bon, B.W.M. van, Pfundt, R.P., Jacquemont, S., Ferrarini, A., Martinet, D., Schrander-Stumpel, C.T.R.M., Stegmann, A.P., Frints, S.G., Vries, L.B.A. de, Ceulemans, B., and Kooy, R.F.

Abstract

Contains fulltext : 80644.pdf (publisher's version ) (Closed access), Interstitial deletions of 7q11.23 cause Williams-Beuren syndrome, one of the best characterized microdeletion syndromes. The clinical phenotype associated with the reciprocal duplication however is not well defined, though speech delay is often mentioned. We present 14 new 7q11.23 patients with the reciprocal duplication of the Williams-Beuren syndrome critical region, nine familial and five de novo. These were identified by either array-based MLPA or by array-CGH/oligonucleotide analysis in a series of patients with idiopathic mental retardation with an estimated population frequency of 1:13,000-1:20,000. Variable speech delay is a constant finding in our patient group, confirming previous reports. Cognitive abilities range from normal to moderate mental retardation. The association with autism is present in five patients and in one father who also carries the duplication. There is an increased incidence of hypotonia and congenital anomalies: heart defects (PDA), diaphragmatic hernia, cryptorchidism and non-specific brain abnormalities on MRI. Specific dysmorphic features were noted in our patients, including a short philtrum, thin lips and straight eyebrows. Our patient collection demonstrates that the 7q11.23 microduplication not only causes language delay, but is also associated with congenital anomalies and a recognizable face.

Published
2009

137. A Silver Cluster–DNA Equilibrium

Author

Petty, Jeffrey T., primary, Sergev, Orlin O., additional, Nicholson, David A., additional, Goodwin, Peter M., additional, Giri, Banabihari, additional, and McMullan, D. Ryan, additional

Published
2013
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141. Examining Palliative Care Team Involvement in Automatic Consultations for Children on Extracorporeal Life Support in the Pediatric Intensive Care Unit

Author

Doorenbos, Ardith Z., primary, Starks, Helene, additional, Bourget, Erica, additional, McMullan, D. Michael, additional, Lewis-Newby, Mithya, additional, Rue, Tessa C., additional, Lindhorst, Taryn, additional, Aisenberg, Eugene, additional, Oman, Natalie, additional, Curtis, J. Randall, additional, and Hays, and the Seattle Ethics in ECL, Ross, additional

Published
2013
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145. Impact of donor-recipient sex match on long-term survival after heart transplantation in children: An analysis of 5797 pediatric heart transplants.

Author

Kemna, Mariska, Albers, Erin, Bradford, Miranda C., Law, Sabrina, Permut, Lester, McMullan, D. Mike, and Law, Yuk

Subjects
HEART transplantation, TRANSPLANTATION of organs, tissues, etc. in children, ORGAN donors, HEART failure treatment, HOMOGRAFTS
Abstract

The effect of donor-recipient sex matching on long-term survival in pediatric heart transplantation is not well known. Adult data have shown worse survival when male recipients receive a sex-mismatched heart, with conflicting results in female recipients. We analyzed 5795 heart transplant recipients ≤18 yr in the Scientific Registry of Transplant Recipients (1990-2012). Recipients were stratified based on donor and recipient sex, creating four groups: MM (N = 1888), FM (N = 1384), FF (N = 1082), and MF (N = 1441). Males receiving sex-matched donor hearts had increased unadjusted allograft survival at five yr (73.2 vs. 71%, p = 0.01). However, this survival advantage disappeared with longer follow-up and when adjusted for additional risk factors by multivariable Cox regression analysis. In contrast, for females, receiving a sex-mismatched heart was associated with an 18% higher risk of allograft loss over time compared to receiving a sex-matched heart ( HR 1.18, 95% CI: 1.00-1.38) and a 26% higher risk compared to sex-matched male recipients ( HR 1.26, 95% CI: 1.10-1.45). Females who receive a heart from a male donor appear to have a distinct long-term survival disadvantage compared to all other groups. [ABSTRACT FROM AUTHOR]

Published
2016
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