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205. Arnold-Forster, Agnes. The cancer problem: malignancy in nineteenth-century Britain

Author

Rankin, J.

Subjects
The Cancer Problem: Malignancy in Nineteenth-Century Britain (Nonfiction work) -- Arnold-Forster, Agnes, Books -- Book reviews, Library and information science, Literature/writing
Abstract

Arnold-Forster, Agnes. The cancer problem: malignancy in nineteenth-century Britain. Oxford, 2021. 272p bibl index ISBN 9780198866145 cloth, $45.00; ISBN 9780191897726 ebook, contact publisher for price 59-2300 RC279 CIP Arnold-Forster argues [...]

Published
2022

215. Large-scale discovery of novel genetic causes of developmental disorders

Author

Fitzgerald, T. W., Gerety, S. S., Jones, W. D., van Kogelenberg, M., King, D. A., McRae, J., Morley, K. I., Parthiban, V., Al-Turki, S., Ambridge, K., Barrett, D. M., Bayzetinova, T., Clayton, S., Coomber, E. L., Gribble, S., Jones, P., Krishnappa, N., Mason, L. E., Middleton, A., Miller, R., Prigmore, E., Rajan, D., Sifrim, A., Tivey, A. R., Ahmed, M., Akawi, N., Andrews, R., Anjum, U., Archer, H., Armstrong, R., Balasubramanian, M., Banerjee, R., Baralle, D., Batstone, P., Baty, D., Bennett, C., Berg, J., Bernhard, B., Bevan, A. P., Blair, E., Blyth, M., Bohanna, D., Bourdon, L., Bourn, D., Brady, A., Bragin, E., Brewer, C., Brueton, L., Brunstrom, K., Bumpstead, S. J., Bunyan, D. J., Burn, J., Burton, J., Canham, N., Castle, B., Chandler, K., Clasper, S., Clayton-Smith, J., Cole, T., Collins, A., Collinson, M. N., Connell, F., Cooper, N., Cox, H., Cresswell, L., Cross, G., Crow, Y., DʼAlessandro, M., Dabir, T., Davidson, R., Davies, S., Dean, J., Deshpande, C., Devlin, G., Dixit, A., Dominiczak, A., Donnelly, C., Donnelly, D., Douglas, A., Duncan, A., Eason, J., Edkins, S., Ellard, S., Ellis, P., Elmslie, F., Evans, K., Everest, S., Fendick, T., Fisher, R., Flinter, F., Foulds, N., Fryer, A., Fu, B., Gardiner, C., Gaunt, L., Ghali, N., Gibbons, R., Pereira, Gomes S. L., Goodship, J., Goudie, D., Gray, E., Greene, P., Greenhalgh, L., Harrison, L., Hawkins, R., Hellens, S., Henderson, A., Hobson, E., Holden, S., Holder, S., Hollingsworth, G., Homfray, T., Humphreys, M., Hurst, J., Ingram, S., Irving, M., Jarvis, J., Jenkins, L., Johnson, D., Jones, D., Jones, E., Josifova, D., Joss, S., Kaemba, B., Kazembe, S., Kerr, B., Kini, U., Kinning, E., Kirby, G., Kirk, C., Kivuva, E., Kraus, A., Kumar, D., Lachlan, K., Lam, W., Lampe, A., Langman, C., Lees, M., Lim, D., Lowther, G., Lynch, S. A., Magee, A., Maher, E., Mansour, S., Marks, K., Martin, K., Maye, U., McCann, E., McConnell, V., McEntagart, M., McGowan, R., McKay, K., McKee, S., McMullan, D. J., McNerlan, S., Mehta, S., Metcalfe, K., Miles, E., Mohammed, S., Montgomery, T., Moore, D., Morgan, S., Morris, A., Morton, J., Mugalaasi, H., Murday, V., Nevitt, L., Newbury-Ecob, R., Norman, A., OʼShea, R., Ogilvie, C., Park, S., Parker, M. J., Patel, C., Paterson, J., Payne, S., Phipps, J., Pilz, D. T., Porteous, D., Pratt, N., Prescott, K., Price, S., Pridham, A., Procter, A., Purnell, H., Ragge, N., Rankin, J., Raymond, L., Rice, D., Robert, L., Roberts, E., Roberts, G., Roberts, J., Roberts, P., Ross, A., Rosser, E., Saggar, A., Samant, S., Sandford, R., Sarkar, A., Schweiger, S., Scott, C., Scott, R., Selby, A., Seller, A., Sequeira, C., Shannon, N., Sharif, S., Shaw-Smith, C., Shearing, E., Shears, D., Simonic, I., Simpkin, D., Singzon, R., Skitt, Z., Smith, A., Smith, B., Smith, K., Smithson, S., Sneddon, L., Splitt, M., Squires, M., Stewart, F., Stewart, H., Suri, M., Sutton, V., Swaminathan, G. J., Sweeney, E., Tatton-Brown, K., Taylor, C., Taylor, R., Tein, M., Temple, I. K., Thomson, J., Tolmie, J., Torokwa, A., Treacy, B., Turner, C., Turnpenny, P., Tysoe, C., Vandersteen, A., Vasudevan, P., Vogt, J., Wakeling, E., Walker, D., Waters, J., Weber, A., Wellesley, D., Whiteford, M., Widaa, S., Wilcox, S., Williams, D., Williams, N., Woods, G., Wragg, C., Wright, M., Yang, F., Yau, M., Carter, N. P., Parker, M., Firth, H. V., FitzPatrick, D. R., Wright, C. F., Barrett, J. C., and Hurles, M. E.

Published
2015
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219. Effect of monochorionicity on perinatal outcome and growth discordance in triplet pregnancy: collaborative multicenter study in England, 2000–2013

Author

Glinianaia, SV, Rankin, J, Khalil, A, Binder, J, Waring, G, Curado, J, Pateisky, P, Thilaganathan, B, Sturgiss, SN, Hannon, T, and NorSTAMP collaborators

Abstract

Objectives\ud To compare perinatal outcome and growth discordance between trichorionic triamniotic (TCTA) and dichorionic triamniotic (DCTA) or monochorionic triamniotic (MCTA) triplet pregnancies.\ud \ud Methods\ud This was a multicenter cohort study using population‐based data on triplet pregnancies from 11 Northern Survey of Twin and Multiple Pregnancy (NorSTAMP) maternity units and the Southwest Thames Region of London Obstetric Research Collaborative (STORK) multiple pregnancy cohort, for 2000–2013. Perinatal outcomes (from ≥ 24 weeks' gestation to 28 days of age), intertriplet fetal growth and birth‐weight (BW) discordance and neonatal morbidity were analyzed in TCTA compared with DCTA/MCTA pregnancies.\ud \ud Results\ud Monochorionic placentation of a pair or trio in triplet pregnancy (n = 72) was associated with a significantly increased risk of perinatal mortality (risk ratio, 2.7 (95% CI, 1.3–5.5)) compared with that in TCTA pregnancies (n = 68), due mainly to a much higher risk of stillbirth (risk ratio, 5.4 (95% CI, 1.6–18.2)), with 57% of all stillbirth cases resulting from fetofetal transfusion syndrome, while there was no significant difference in neonatal mortality (P = 0.60). The associations with perinatal mortality and stillbirth persisted when considering only pregnancies not affected by a major congenital anomaly. DCTA/MCTA triplets had lower BW and demonstrated greater BW discordance than did TCTA triplets (P = 0.049). Severe BW discordance of > 35% was 2.5‐fold higher in DCTA/MCTA compared with TCTA pregnancies (26.1% vs 10.4%), but this difference did not reach statistical significance (P = 0.06), presumably due to low numbers. Triplets in both groups were delivered by Cesarean section in over 95% of cases, at a similar gestational age (median, 33 weeks' gestation). The rate of respiratory (P = 0.28) or infectious (P = 0.08) neonatal morbidity was similar between the groups.\ud \ud Conclusions\ud Despite close antenatal surveillance, monochorionic placentation of a pair or trio in triamniotic triplet pregnancy was associated with a significantly increased stillbirth risk, mainly due to fetofetal transfusion syndrome, and with greater size discordance. In liveborn triplets, there was no adverse effect of monochorionicity on neonatal outcome.

Published
2021

220. An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy

Author

Pagnamenta, AT, Kaiyrzhanov, R, Zou, Y, Da'as, SI, Maroofian, R, Donkervoort, S, Dominik, N, Lauffer, M, Ferla, MP, Orioli, A, Giess, A, Tucci, A, Beetz, C, Sedghi, M, Ansari, B, Barresi, R, Basiri, K, Cortese, A, Elgar, G, Fernandez-Garcia, MA, Yip, J, Foley, AR, Gutowski, N, Jungbluth, H, Lassche, S, Lavin, T, Marcelis, C, Marks, P, Marini-Bettolo, C, Medne, L, Moslemi, A-R, Sarkozy, A, Reilly, MM, Muntoni, F, Millan, F, Muraresku, CC, Need, AC, Nemeth, AH, Neuhaus, SB, Norwood, F, O'Donnell, M, O'Driscoll, M, Rankin, J, Yum, SW, Zolkipli-Cunningham, Z, Brusius, I, Wunderlich, G, Genomics England Research Consortium, Karakaya, M, Wirth, B, Fakhro, KA, Tajsharghi, H, Bönnemann, CG, Taylor, JC, and Houlden, H

Abstract

The extracellular matrix comprises a network of macromolecules such as collagens, proteoglycans and glycoproteins. VWA1 (von Willebrand factor A domain containing 1) encodes a component of the extracellular matrix that interacts with perlecan/collagen VI, appears to be involved in stabilizing extracellular matrix structures, and demonstrates high expression levels in tibial nerve. Vwa1-deficient mice manifest with abnormal peripheral nerve structure/function; however, VWA1 variants have not previously been associated with human disease. By interrogating the genome sequences of 74 180 individuals from the 100K Genomes Project in combination with international gene-matching efforts and targeted sequencing, we identified 17 individuals from 15 families with an autosomal-recessive, non-length dependent, hereditary motor neuropathy and rare biallelic variants in VWA1. A single disease-associated allele p.(G25Rfs*74), a 10-bp repeat expansion, was observed in 14/15 families and was homozygous in 10/15. Given an allele frequency in European populations approaching 1/1000, the seven unrelated homozygote individuals ascertained from the 100K Genomes Project represents a substantial enrichment above expected. Haplotype analysis identified a shared 220 kb region suggesting that this founder mutation arose >7000 years ago. A wide age-range of patients (6-83 years) helped delineate the clinical phenotype over time. The commonest disease presentation in the cohort was an early-onset (mean 2.0 ± 1.4 years) non-length-dependent axonal hereditary motor neuropathy, confirmed on electrophysiology, which will have to be differentiated from other predominantly or pure motor neuropathies and neuronopathies. Because of slow disease progression, ambulation was largely preserved. Neurophysiology, muscle histopathology, and muscle MRI findings typically revealed clear neurogenic changes with single isolated cases displaying additional myopathic process. We speculate that a few findings of myopathic changes might be secondary to chronic denervation rather than indicating an additional myopathic disease process. Duplex reverse transcription polymerase chain reaction and immunoblotting using patient fibroblasts revealed that the founder allele results in partial nonsense mediated decay and an absence of detectable protein. CRISPR and morpholino vwa1 modelling in zebrafish demonstrated reductions in motor neuron axonal growth, synaptic formation in the skeletal muscles and locomotive behaviour. In summary, we estimate that biallelic variants in VWA1 may be responsible for up to 1% of unexplained hereditary motor neuropathy cases in Europeans. The detailed clinical characterization provided here will facilitate targeted testing on suitable patient cohorts. This novel disease gene may have previously evaded detection because of high GC content, consequential low coverage and computational difficulties associated with robustly detecting repeat-expansions. Reviewing previously unsolved exomes using lower QC filters may generate further diagnoses.

Published
2021

224. The January 2015 Repressurization of ISS ATCS Loop B - Analysis Limitations and Concerns

Author

Ungar, Eugene, Rankin, J. Gary, Schaff, Mary, and Figueroa, Marcelino

Subjects
Spacecraft Design, Testing And Performance
Abstract

In January 2013 a false ammonia leak alarm resulted in the shutdown and partial depressurization of one of the two International Space Station (ISS) External Active Thermal Control System (EATCS) loops. The depressurization resulted in a vapor bubble of 18 liters in warm parts of the stagnant loop. To repressurize the loop and regain system operation, liquid would have to be moved from the Ammonia Tank Assembly (ATA) into the loop. This resulted in the possibility of moving cold (as low as ‐30 C) ammonia into the water‐filled Internal Active Thermal Control System (IATCS) interface heat exchangers. Before moving forward, the freezing potential of the repressurization was evaluated through analysis - using both a Thermal Desktop SINDA/FLUINT model and hand calculations. The models yielded very different results, but both models indicated that heat exchanger freezing was not an issue. Therefore, the repressurization proceeded. The presentation describes the physical situation of the EATCS prior to repressurization and discusses the potential limits and pitfalls of the repressurization. The pre‐repressurization analytical models and their results are discussed. The successful repressurization is describled and the results of a post‐event model assessment is detailed.

Published
2015

234. Parker Solar Probe observations of He/H abundance variations in SEP events inside 0.5 au

Author

Cohen, C. M. S., primary, Christian, E. R., additional, Cummings, A. C., additional, Davis, A. J., additional, Desai, M. I., additional, de Nolfo, G. A., additional, Giacalone, J., additional, Hill, M. E., additional, Joyce, C. J., additional, Labrador, A. W., additional, Leske, R. A., additional, Matthaeus, W. H., additional, McComas, D. J., additional, McNutt, R. L., additional, Mewaldt, R. A., additional, Mitchell, D. G., additional, Mitchell, J. G., additional, Rankin, J. S., additional, Roelof, E. C., additional, Schwadron, N. A., additional, Stone, E. C., additional, Szalay, J. R., additional, Wiedenbeck, M. E., additional, Vourlidas, A., additional, Bale, S. D., additional, Pulupa, M., additional, and MacDowall, R. J., additional

Published
2021
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235. A new view of energetic particles from stream interaction regions observed by Parker Solar Probe

Author

Schwadron, N. A., primary, Joyce, C. J., additional, Aly, A., additional, Cohen, C. M. S., additional, Desai, M. I., additional, McComas, D. J., additional, Niehof, J. T., additional, Möbius, E., additional, Lee, M., additional, Bower, J., additional, Bale, S., additional, Case, A., additional, Christian, E. R., additional, Davis, A. J., additional, de Wet, W., additional, Goetz, K., additional, Giacalone, J., additional, Hill, M. E., additional, Allen, R., additional, Kasper, J. C., additional, Korreck, K., additional, Leske, R. A., additional, Malandraki, O., additional, Matthaeus, W. H., additional, McNutt, R. L., additional, Mewaldt, R. A., additional, Mitchell, D. G., additional, Pulupa, M., additional, Rankin, J. S., additional, Roelof, E. C., additional, Stone, E. C., additional, Szalay, J. R., additional, and Wiedenbeck, M. E., additional

Published
2021
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236. Time evolution of stream interaction region energetic particle spectra in the inner heliosphere

Author

Joyce, C. J., primary, McComas, D. J., additional, Schwadron, N. A., additional, Christian, E. R., additional, Wiedenbeck, M. E., additional, McNutt, R. L., additional, Cohen, C. M. S., additional, Leske, R. A., additional, Mewaldt, R. A., additional, Stone, E. C., additional, Labrador, A. W., additional, Davis, A. J., additional, Cummings, A. C., additional, Mitchell, D. G., additional, Hill, M. E., additional, Roelof, E. C., additional, Allen, R. C., additional, Szalay, J. R., additional, Rankin, J. S., additional, Desai, M. I., additional, Giacalone, J., additional, Matthaeus, W. H., additional, Bale, S. D., additional, and Kasper, J. C., additional

Published
2021
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237. Thin silicon solid-state detectors for energetic particle measurements

Author

Wiedenbeck, M. E., primary, Burnham, J. A., additional, Cohen, C. M. S., additional, Cook, W. R., additional, Crabill, R. M., additional, Cummings, A. C., additional, Davis, A. J., additional, Kecman, B., additional, Labrador, A. W., additional, Leske, R. A., additional, Mewaldt, R. A., additional, Rankin, J. S., additional, Rusert, M. D., additional, Stone, E. C., additional, Christian, E. R., additional, Goodwin, P. A., additional, Link, J. T., additional, Nahory, B. W., additional, Shuman, S. A., additional, von Rosenvinge, T. T., additional, Tindall, C. S., additional, Black, H., additional, Bullough, M., additional, Clarke, N., additional, Glasson, V., additional, Greenwood, N., additional, Hawkins, C., additional, Johnson, T. L., additional, Newton, A., additional, Richardson, K., additional, Walsh, S., additional, Wilburn, C., additional, Birdwell, B., additional, Everett, D. T., additional, McComas, D. J., additional, Weidner, S. E., additional, Angold, N. G., additional, and Schwadron, N. A., additional

Published
2021
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238. Robotic aortic valve replacement

Author

Badhwar, Vinay, primary, Wei, Lawrence M., additional, Cook, Chris C., additional, Hayanga, J. W. Awori, additional, Daggubati, Ramesh, additional, Sengupta, Partho P., additional, and Rankin, J. Scott, additional

Published
2021
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240. First Observations of Anomalous Cosmic Rays in to 36 Solar Radii

Author

Rankin, J. S., primary, McComas, D. J., additional, Leske, R. A., additional, Christian, E. R., additional, Cohen, C. M. S., additional, Cummings, A. C., additional, Joyce, C. J., additional, Labrador, A. W., additional, Mewaldt, R. A., additional, Posner, A., additional, Schwadron, N. A., additional, Strauss, R. D., additional, Stone, E. C., additional, and Wiedenbeck, M. E., additional

Published
2021
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241. Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C

Author

Pelletier, F. Perrier, S. Cayami, F.K. Mirchi, A. Saikali, S. Tran, L.T. Ulrick, N. Guerrero, K. Rampakakis, E. Van Spaendonk, R.M.L. Naidu, S. Pohl, D. Gibson, W.T. Demos, M. Goizet, C. Tejera-Martin, I. Potic, A. Fogel, B.L. Brais, B. Sylvain, M. Sébire, G. Lourenço, C.M. Bonkowsky, J.L. Catsman-Berrevoets, C. Pinto, P.S. Tirupathi, S. Strømme, P. De Grauw, T. Gieruszczak-Bialek, D. Krägeloh-Mann, I. Mierzewska, H. Philippi, H. Rankin, J. Atik, T. Banwell, B. Benko, W.S. Blaschek, A. Bley, A. Boltshauser, E. Bratkovic, D. Brozova, K. Cimas, I. Clough, C. Corenblum, B. Dinopoulos, A. Dolan, G. Faletra, F. Fernandez, R. Fletcher, J. Garcia Garcia, M.E. Gasparini, P. Gburek-Augustat, J. Gonzalez Moron, D. Hamati, A. Harting, I. Hertzberg, C. Hill, A. Hobson, G.M. Innes, A.M. Kauffman, M. Kirwin, S.M. Kluger, G. Kolditz, P. Kotzaeridou, U. La Piana, R. Liston, E. McClintock, W. McEntagart, M. McKenzie, F. Melançon, S. Misbahuddin, A. Suri, M. Monton, F.I. Moutton, S. Murphy, R.P.J. Nickel, M. Onay, H. Orcesi, S. Özklnay, F. Patzer, S. Pedro, H. Pekic, S. Pineda Marfa, M. Pizzino, A. Plecko, B. Poll-The, B.T. Popovic, V. Rating, D. Rioux, M.-F. Rodriguez Espinosa, N. Ronan, A. Ostergaard, J.R. Rossignol, E. Sanchez-Carpintero, R. Schossig, A. Senbil, N. Sønderberg Roos, L.K. Stevens, C.A. Synofzik, M. Sztriha, L. Tibussek, D. Timmann, D. Tonduti, D. Van De Warrenburg, B.P. Vázquez-López, M. Venkateswaran, S. Wasling, P. Wassmer, E. Webster, R.I. Wiegand, G. Yoon, G. Rotteveel, J. Schiffmann, R. Van Der Knaap, M.S. Vanderver, A. Martos-Moreno, G.Á. Polychronakos, C. Wolf, N.I. Bernard, G.

Abstract

Context: 4H or POLR3-related leukodystrophy is an autosomal recessive disorder typically characterized by hypomyelination, hypodontia, and hypogonadotropic hypogonadism, caused by biallelic pathogenic variants in POLR3A, POLR3B, POLR1C, and POLR3K. The endocrine and growth abnormalities associated with this disorder have not been thoroughly investigated to date. Objective: To systematically characterize endocrine abnormalities of patients with 4H leukodystrophy. Design: An international cross-sectional study was performed on 150 patients with genetically confirmed 4H leukodystrophy between 2015 and 2016. Endocrine and growth abnormalities were evaluated, and neurological and other non-neurological features were reviewed. Potential genotype/phenotype associations were also investigated. Setting: This was a multicenter retrospective study using information collected from 3 predominant centers. Patients: A total of 150 patients with 4H leukodystrophy and pathogenic variants in POLR3A, POLR3B, or POLR1C were included. Main Outcome Measures: Variables used to evaluate endocrine and growth abnormalities included pubertal history, hormone levels (estradiol, testosterone, stimulated LH and FSH, stimulated GH, IGF-I, prolactin, ACTH, cortisol, TSH, and T4), and height and head circumference charts. Results: The most common endocrine abnormalities were delayed puberty (57/74; 77% overall, 64% in males, 89% in females) and short stature (57/93; 61%), when evaluated according to physician assessment. Abnormal thyroid function was reported in 22% (13/59) of patients. Conclusions: Our results confirm pubertal abnormalities and short stature are the most common endocrine features seen in 4H leukodystrophy. However, we noted that endocrine abnormalities are typically underinvestigated in this patient population. A prospective study is required to formulate evidence-based recommendations for management of the endocrine manifestations of this disorder. © 2020 The Author(s) 2020. Published by Oxford University Press on behalf of the Endocrine Society.

Published
2021

242. An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy

Author

Pagnamenta, A.T., Kaiyrzhanov, R., Zou, Y., Da'as, S.I., Maroofian, R., Donkervoort, S., Dominik, N., Lauffer, M., Ferla, M.P., Orioli, A., Giess, A., Tucci, A., Beetz, C., Sedghi, M., Ansari, B., Barresi, R., Basiri, K., Cortese, A., Elgar, G., Fernandez-Garcia, M.A., Yip, J., Foley, A.R., Gutowski, N., Jungbluth, H., Lassche, S., Lavin, T., Marcelis, C.L., Marks, P., Marini-Bettolo, C., Medne, L., Moslemi, A.R., Sarkozy, A., Reilly, M.M., Muntoni, F., Millan, F., Muraresku, C.C., Need, A.C., Nemeth, A.H., Neuhaus, S.B., Norwood, F., O'Donnell, M., O'Driscoll, M., Rankin, J., Yum, S.W., Zolkipli-Cunningham, Z., Brusius, I., Wunderlich, G., Karakaya, M., Wirth, B., Fakhro, K.A., Tajsharghi, H., Bönnemann, C.G., Taylor, J.C., Houlden, H., Pagnamenta, A.T., Kaiyrzhanov, R., Zou, Y., Da'as, S.I., Maroofian, R., Donkervoort, S., Dominik, N., Lauffer, M., Ferla, M.P., Orioli, A., Giess, A., Tucci, A., Beetz, C., Sedghi, M., Ansari, B., Barresi, R., Basiri, K., Cortese, A., Elgar, G., Fernandez-Garcia, M.A., Yip, J., Foley, A.R., Gutowski, N., Jungbluth, H., Lassche, S., Lavin, T., Marcelis, C.L., Marks, P., Marini-Bettolo, C., Medne, L., Moslemi, A.R., Sarkozy, A., Reilly, M.M., Muntoni, F., Millan, F., Muraresku, C.C., Need, A.C., Nemeth, A.H., Neuhaus, S.B., Norwood, F., O'Donnell, M., O'Driscoll, M., Rankin, J., Yum, S.W., Zolkipli-Cunningham, Z., Brusius, I., Wunderlich, G., Karakaya, M., Wirth, B., Fakhro, K.A., Tajsharghi, H., Bönnemann, C.G., Taylor, J.C., and Houlden, H.

Abstract

Contains fulltext : 231705.pdf (Publisher’s version ) (Open Access), The extracellular matrix comprises a network of macromolecules such as collagens, proteoglycans and glycoproteins. VWA1 (von Willebrand factor A domain containing 1) encodes a component of the extracellular matrix that interacts with perlecan/collagen VI, appears to be involved in stabilizing extracellular matrix structures, and demonstrates high expression levels in tibial nerve. Vwa1-deficient mice manifest with abnormal peripheral nerve structure/function; however, VWA1 variants have not previously been associated with human disease. By interrogating the genome sequences of 74 180 individuals from the 100K Genomes Project in combination with international gene-matching efforts and targeted sequencing, we identified 17 individuals from 15 families with an autosomal-recessive, non-length dependent, hereditary motor neuropathy and rare biallelic variants in VWA1. A single disease-associated allele p.(G25Rfs*74), a 10-bp repeat expansion, was observed in 14/15 families and was homozygous in 10/15. Given an allele frequency in European populations approaching 1/1000, the seven unrelated homozygote individuals ascertained from the 100K Genomes Project represents a substantial enrichment above expected. Haplotype analysis identified a shared 220 kb region suggesting that this founder mutation arose >7000 years ago. A wide age-range of patients (6-83 years) helped delineate the clinical phenotype over time. The commonest disease presentation in the cohort was an early-onset (mean 2.0 ± 1.4 years) non-length-dependent axonal hereditary motor neuropathy, confirmed on electrophysiology, which will have to be differentiated from other predominantly or pure motor neuropathies and neuronopathies. Because of slow disease progression, ambulation was largely preserved. Neurophysiology, muscle histopathology, and muscle MRI findings typically revealed clear neurogenic changes with single isolated cases displaying additional myopathic process. We speculate that a few findings of my

Published
2021

243. Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C

Author

Pelletier, F., Perrier, S., Cayami, F.K., Mirchi, A., Saikali, S., Tran, L.T., Ulrick, N., Guerrero, K., Rampakakis, E., Spaendonk, R.M.L. van, Naidu, S., Pohl, D., Gibson, W.T., Demos, M., Goizet, C., Tejera-Martin, I., Potic, A., Fogel, B.L., Brais, B., Sylvain, M., Sébire, G., Lourenço, C.M., Bonkowsky, J.L., Catsman-Berrevoets, C., Pinto, P.S., Tirupathi, S., Strømme, P., Grauw, T. de, Gieruszczak-Bialek, D., Krägeloh-Mann, I., Mierzewska, H., Philippi, H., Rankin, J., Atik, T., Banwell, B., Benko, W.S., Blaschek, A., Bley, A., Boltshauser, E., Bratkovic, D., Brozova, K., Cimas, I., Clough, C., Corenblum, B., Dinopoulos, A., Dolan, G., Faletra, F., Fernandez, R., Fletcher, J., Garcia, M.E., Gasparini, P., Gburek-Augustat, J., Moron, D. Gonzalez, Hamati, A., Harting, I., Hertzberg, C., Hill, A., Hobson, G.M., Innes, A. Micheil, Kauffman, M., Kirwin, S.M., Kluger, G., Kolditz, P., Kotzaeridou, U., Piana, R., Liston, E., McClintock, W., McEntagart, M., McKenzie, F., Melançon, S., Misbahuddin, A., Suri, M., Monton, F.I., Moutton, S., Murphy, R.P.J., Nickel, M., Onay, H., Orcesi, S., Özkınay, F., Patzer, S., Pedro, H., Pekic, S., Marfa, M. Pineda, Pizzino, A., Plecko, B., Poll-The, B.T., Popovic, V., Rating, D., Rioux, M.F., Espinosa, N. Rodriguez, Ronan, A., Ostergaard, J.R., Rossignol, E., Sanchez-Carpintero, R., Schossig, A., Senbil, N., Roos, L.K. Sønderberg, Stevens, C.A., Synofzik, M., Sztriha, L., et al., Warrenburg, B.P.C. van de, Wolf, N.I., Bernard, G., Pelletier, F., Perrier, S., Cayami, F.K., Mirchi, A., Saikali, S., Tran, L.T., Ulrick, N., Guerrero, K., Rampakakis, E., Spaendonk, R.M.L. van, Naidu, S., Pohl, D., Gibson, W.T., Demos, M., Goizet, C., Tejera-Martin, I., Potic, A., Fogel, B.L., Brais, B., Sylvain, M., Sébire, G., Lourenço, C.M., Bonkowsky, J.L., Catsman-Berrevoets, C., Pinto, P.S., Tirupathi, S., Strømme, P., Grauw, T. de, Gieruszczak-Bialek, D., Krägeloh-Mann, I., Mierzewska, H., Philippi, H., Rankin, J., Atik, T., Banwell, B., Benko, W.S., Blaschek, A., Bley, A., Boltshauser, E., Bratkovic, D., Brozova, K., Cimas, I., Clough, C., Corenblum, B., Dinopoulos, A., Dolan, G., Faletra, F., Fernandez, R., Fletcher, J., Garcia, M.E., Gasparini, P., Gburek-Augustat, J., Moron, D. Gonzalez, Hamati, A., Harting, I., Hertzberg, C., Hill, A., Hobson, G.M., Innes, A. Micheil, Kauffman, M., Kirwin, S.M., Kluger, G., Kolditz, P., Kotzaeridou, U., Piana, R., Liston, E., McClintock, W., McEntagart, M., McKenzie, F., Melançon, S., Misbahuddin, A., Suri, M., Monton, F.I., Moutton, S., Murphy, R.P.J., Nickel, M., Onay, H., Orcesi, S., Özkınay, F., Patzer, S., Pedro, H., Pekic, S., Marfa, M. Pineda, Pizzino, A., Plecko, B., Poll-The, B.T., Popovic, V., Rating, D., Rioux, M.F., Espinosa, N. Rodriguez, Ronan, A., Ostergaard, J.R., Rossignol, E., Sanchez-Carpintero, R., Schossig, A., Senbil, N., Roos, L.K. Sønderberg, Stevens, C.A., Synofzik, M., Sztriha, L., et al., Warrenburg, B.P.C. van de, Wolf, N.I., and Bernard, G.

Abstract

Contains fulltext : 235629.pdf (Publisher’s version ) (Open Access), CONTEXT: 4H or POLR3-related leukodystrophy is an autosomal recessive disorder typically characterized by hypomyelination, hypodontia, and hypogonadotropic hypogonadism, caused by biallelic pathogenic variants in POLR3A, POLR3B, POLR1C, and POLR3K. The endocrine and growth abnormalities associated with this disorder have not been thoroughly investigated to date. OBJECTIVE: To systematically characterize endocrine abnormalities of patients with 4H leukodystrophy. DESIGN: An international cross-sectional study was performed on 150 patients with genetically confirmed 4H leukodystrophy between 2015 and 2016. Endocrine and growth abnormalities were evaluated, and neurological and other non-neurological features were reviewed. Potential genotype/phenotype associations were also investigated. SETTING: This was a multicenter retrospective study using information collected from 3 predominant centers. PATIENTS: A total of 150 patients with 4H leukodystrophy and pathogenic variants in POLR3A, POLR3B, or POLR1C were included. MAIN OUTCOME MEASURES: Variables used to evaluate endocrine and growth abnormalities included pubertal history, hormone levels (estradiol, testosterone, stimulated LH and FSH, stimulated GH, IGF-I, prolactin, ACTH, cortisol, TSH, and T4), and height and head circumference charts. RESULTS: The most common endocrine abnormalities were delayed puberty (57/74; 77% overall, 64% in males, 89% in females) and short stature (57/93; 61%), when evaluated according to physician assessment. Abnormal thyroid function was reported in 22% (13/59) of patients. CONCLUSIONS: Our results confirm pubertal abnormalities and short stature are the most common endocrine features seen in 4H leukodystrophy. However, we noted that endocrine abnormalities are typically underinvestigated in this patient population. A prospective study is required to formulate evidence-based recommendations for management of the endocrine manifestations of this disorder.

Published
2021

244. Global research priorities on COVID-19 for maternal, newborn, child and adolescent health

Author

Ahmed, ASMNU, Maamri, A, Falade, AG, Ayede, AI, Bhutta, A, Gambhir, A, Tagarro, A, Abdelmegeid, A, Ahmadi, AR, Barros, AJD, Mekasha, A, Srinivasaiyer, AK, Araujo da Silva, AR, Schultz, A, Fatima, B, Dhar, B, Magowan, B, Wills, B, Raynes-Greenow, C, Homer, C, Maclennan, C, Ward, C, Garcia, DM, Ross, D, Murdoch, D, Wilson, DJ, Adejuyigbe, E, Stasii, E, Scudder, E, Sacks, E, McCollum, ED, Althabe, F, Russell, F, Kumar, GS, Sommerfelt, H, Graham, H, Blencowe, H, Tappis, H, Saloojee, H, Ben Masaud, HA, Tiwary, H, Asiodu, I, Newton, JB, Bourdaire, J, Adze, JA, Martines, J, Lozano, JM, Walson, J, Rankin, J, Allegaert, K, Pelle, KG, Edmond, K, Rabiei, K, Rasmussen, KM, Yunis, K, Ferguson, L, Greenslade, L, Kiapi, L, Noguchi, L, Bont, L, Day, LT, Mofenson, L, Aboumayaleh, M, Aquzouz, M, Wahba, M, Nagai, M, Knight, M, Melkumova, M, Jenyfa, M, Neuman, MI, Meremikwu, M, Kinney, M, Gravett, M, Hawkes, MT, Pacque, M, Walsh, M, McGuire, MK, AlShawafi, NA, Khuri-Bulos, N, Thacker, N, Rollins, N, Kissoon, N, Starets, O, Picone, O, Oladapo, OT, Erdeve, O, Smith, PB, Van de Perre, P, Kumar, P, Mangtani, P, Abbas, Q, Khatoon, R, Bahl, R, Lodha, R, Grais, R, Richards-Kortum, R, Rasaily, R, Aryeetey, R, Pattinson, R, Petrucci, R, Rossi, R, Pace, RM, Yoshida, S, Walani, SR, Godakandage, SSP, Bauler, S, Comstock, SS, Basu, S, Kebede, S, Saha, S, Bhatnagar, S, Lee, SK, Gupta, S, Antara, SN, Downe, S, Freedman, S, Lye, SJ, Miller, S, Sulimani, S, Ley, SH, Mangal, TD, Lavin, T, Shi, T, Florin, TA, Sundekilde, UK, Baltag, V, Valdes, V, Cherniak, W, Bin Nisar, Y, Shamszai, ZZ, Navabi, ZS, Ahmed, ASMNU, Maamri, A, Falade, AG, Ayede, AI, Bhutta, A, Gambhir, A, Tagarro, A, Abdelmegeid, A, Ahmadi, AR, Barros, AJD, Mekasha, A, Srinivasaiyer, AK, Araujo da Silva, AR, Schultz, A, Fatima, B, Dhar, B, Magowan, B, Wills, B, Raynes-Greenow, C, Homer, C, Maclennan, C, Ward, C, Garcia, DM, Ross, D, Murdoch, D, Wilson, DJ, Adejuyigbe, E, Stasii, E, Scudder, E, Sacks, E, McCollum, ED, Althabe, F, Russell, F, Kumar, GS, Sommerfelt, H, Graham, H, Blencowe, H, Tappis, H, Saloojee, H, Ben Masaud, HA, Tiwary, H, Asiodu, I, Newton, JB, Bourdaire, J, Adze, JA, Martines, J, Lozano, JM, Walson, J, Rankin, J, Allegaert, K, Pelle, KG, Edmond, K, Rabiei, K, Rasmussen, KM, Yunis, K, Ferguson, L, Greenslade, L, Kiapi, L, Noguchi, L, Bont, L, Day, LT, Mofenson, L, Aboumayaleh, M, Aquzouz, M, Wahba, M, Nagai, M, Knight, M, Melkumova, M, Jenyfa, M, Neuman, MI, Meremikwu, M, Kinney, M, Gravett, M, Hawkes, MT, Pacque, M, Walsh, M, McGuire, MK, AlShawafi, NA, Khuri-Bulos, N, Thacker, N, Rollins, N, Kissoon, N, Starets, O, Picone, O, Oladapo, OT, Erdeve, O, Smith, PB, Van de Perre, P, Kumar, P, Mangtani, P, Abbas, Q, Khatoon, R, Bahl, R, Lodha, R, Grais, R, Richards-Kortum, R, Rasaily, R, Aryeetey, R, Pattinson, R, Petrucci, R, Rossi, R, Pace, RM, Yoshida, S, Walani, SR, Godakandage, SSP, Bauler, S, Comstock, SS, Basu, S, Kebede, S, Saha, S, Bhatnagar, S, Lee, SK, Gupta, S, Antara, SN, Downe, S, Freedman, S, Lye, SJ, Miller, S, Sulimani, S, Ley, SH, Mangal, TD, Lavin, T, Shi, T, Florin, TA, Sundekilde, UK, Baltag, V, Valdes, V, Cherniak, W, Bin Nisar, Y, Shamszai, ZZ, and Navabi, ZS

Abstract

BACKGROUND: This research prioritization aimed to identify major research gaps in maternal, newborn, child and adolescent health (MNCAH) to help mitigate the direct and indirect effects of the COVID-19 pandemic. METHODS: We adapted the Child Health and Nutrition Research Initiative methodology. We defined scope, domains, themes and scoring criteria. We approached diverse global experts via email to submit their research ideas in MNCAH and MNCAH-related cross-cutting/health systems area. We curated the research ideas as research questions (RQs) and sent them to the consenting experts for scoring via the online link. For each RQ, the research priority score (RPS) was calculated as an average of individual criterion scores and ranked based on RPS in each area. RESULTS: We identified top-ranked 10 RQs in each maternal, newborn, and child and adolescent health and 5 in the cross-cutting/health systems area. In maternal health, indirect effects on care, measures to improve care, health risks and outcomes, and preventing and managing SARS-CoV-2 infection/COVID-19 disease were priority RQs. In newborn health, clinical characterization and managing SARS-CoV-2 infection/COVID-19 disease, mode of transmission and interventions to prevent transmission were the focus. For child and adolescent health, top-ranked RQs were indirect effects on care, clinical status and outcomes, interventions to protect against SARS-CoV-2 infection/COVID-19 disease, and educational institute-related RQs. The cross-cutting RQs were the effects of the pandemic on availability, access, care-seeking and utilization of MNCAH services and potential solutions. CONCLUSIONS: We call on partners, including governments, non-governmental organizations, research institutes, and donors, to address this urgent research agenda.

Published
2021

246. Authorship

Author

Barker, Andrew, Powell, Richard A., Bhopal, R. S., Rankin, J. M., McColl, E., Stacy, R., Pearson, P. H., Kaner, E. F. S., Thomas, L. H., Vernon, B. G., and Rodgers, H.

Published
1997

247. Congenital Anterior Abdominal Wall Defects

Author

Luck, Carole, Scrutton, Jacqui, Chalmers, James, Forrest, Joan, Cant, Beatrice, Hollinsworth, Mark, Dillon, E., Renwick, M., Rankin, J., Stringer, Mark D., and Mason, Gerald

Published
1997

249. Fullagar, Kate. The warrior, the voyager, and the artist: three lives in an age of empire

Author

Rankin, J.

Subjects
The Warrior, the Voyager, and the Artist: Three Lives in an Age of Empire (Nonfiction work) -- Fullagar, Kate, Books -- Book reviews, Library and information science, Literature/writing
Abstract

Fullagar, Kate. The warrior, the voyager, and the artist: three lives in an age of empire. Yale, 2020. 306p index ISBN 9780300243062 cloth, $40.00; ISBN 9780300249279 ebook, contact publisher for [...]

Published
2020

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